Property Summary

NCBI Gene PubMed Count 222
PubMed Score 1236.44
PubTator Score 612.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Skin cancer 37 0.0 1.0
Disease Target Count Z-score Confidence
Chronic obstructive pulmonary disease 147 0.0 2.0
Disease Target Count Z-score Confidence
Nevoid basal cell carcinoma syndrome 9 8.36 4.0
Disease Target Count Z-score Confidence
Cancer 2346 5.591 2.8
Holoprosencephaly 52 4.213 2.1

Expression

  Differential Expression (16)

Disease log2 FC p
gastric cancer 1.200 1.6e-03
malignant mesothelioma 4.200 1.2e-09
psoriasis -1.800 8.7e-09
osteosarcoma 1.842 4.8e-03
sonic hedgehog group medulloblastoma 2.200 6.6e-05
atypical teratoid / rhabdoid tumor 1.400 2.4e-03
primary pancreatic ductal adenocarcinoma 1.513 2.7e-02
lung cancer 1.400 9.0e-05
interstitial cystitis -2.300 3.7e-05
subependymal giant cell astrocytoma -4.132 4.3e-03
Endometriosis 1.230 4.8e-02
breast carcinoma -1.400 6.6e-34
Breast cancer -2.200 9.2e-07
invasive ductal carcinoma -2.000 4.2e-03
ovarian cancer -2.200 2.3e-07
pancreatic cancer 1.100 1.4e-02

 IMPC Phenotype (1)

Gene RIF (184)

PMID Text
27245001 after 20 years of the molecular and epidemiological research of RET/PTC in thyroid radiogenic carcinomas the comprehensive evidence of the dose-effect dependence existence indicating a real relationship between the studied parameters and radiation factor
27125030 The Cytoskeletal Protein Zyxin Interacts with the Hedgehog Receptor Patched
26997450 Increased SHH, PTCH, and GLI1 protein correlated positively with tumor grade, tumor depth and lymph node metastasis in Peutz-Jeghers syndrome.
26733130 A genome-wide association study of bone mineral density (BMD) found a new BMD locus that harbors the PTCH1 gene, that associates with reduced spine BMD and the RSPO3 associates with increased spine BMD.
26290144 The results do not support our hypothesis that common germline genetic variants in the PTCH1 genes is associated with the risk of developing medulloblastoma.
26189965 Melittin induces PTCH1 expression by down-regulating MeCP2 and blocking Shh signaling in human hepatocellular carcinoma cells.
26126827 Calcitriol represents a possible endogenous transmitter of Ptch/Smo interaction.
26038600 results indicate that whereas ciliary localization of Patched is essential for suppression of Smoothened activation, the primary event enabling Smoothened activation
25826662 PTCH1 expression is regulated by different 5' untranslated region cis-regulatory elements.
25727044 In this study we presented two cases with Gorlin syndrome. Molecular analysis of the patients showed two frameshift and one nonsense mutations in PTCH1 gene (two germline and one somatic), all of them novel.
25595896 Data indicate microRNA-9 (miR-9) as the target of patched protein 1 (PTCH1) in resistant glioblastoma multiforme (GBM) cells with concomitant activation of sonic hedgehog SHH signaling.
25458233 results suggest that the PTCH1 gene plays a significant role in the pathogenesis of sporadic KCOTs, which is comparable to that observed in NBCCS patients
25403219 suggest childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome
25395299 Frequent inactivating PTCH1 mutations were found in oesophageal basaloid squamous cell carcinoma. These changes activate the Hedgehog pathway, which has been shown to cross-talk with the Wnt signalling pathway.
25330948 our data suggests that activation of the Hedgehog pathway due to PTCH1 inactivation along with HPV infection is important in cervical cancer development.
25292199 Results show that XIAP binds to the C terminus of Ptch1 and mediates the death-dependent function of Ptch1.
25092867 The C-terminal domain of PTCH1 interacts with and is ubiquitylated on K1413 by the E3 ubiquitin-protein ligase Itchy homolog Itch.
25027328 Ptc1-Gli1 signaling deregulation resulting in abnormal loss of glial precursor cells may contribute to a cognition decline in Alzheimer's disease brains.
24961235 MiR-212 may facilitate pancreatic ductal adenocarcinoma progression and metastasis through targeting PTCH1.
24942795 germline single base deletion of PTCH1 (c.2613 delC) is a first hit and the LOH of the wild-type allele is a second hit, implying that all 16 BCCs detected in these NBCCS sisters fit the standard two-hit model
24840883 our data suggest that the non-canonical Hh pathway mediated through ptch1 and cyclin B1 is involved in the pathogenesis of NBCCS-associated KCOTs.
24805933 Results found that PTCH1 is highly expressed in hepatocellular carcinoma tissues.
24733827 The expression of PTCH1 in 50 human cholangiocellular carcinoma, cholangiocarcinoma cell line, and vivo growing tumors was measured by quantitative PCR
24710823 High Ptch-1 expression is associated with lymph node metastasis in non-small cell lung cancers.
24668667 Variants of the PTCH1 and COL17A1 genes may contribute to the development of Ossification of the posterior longitudinal ligament.
24659465 Two altered PTCH1 transcripts were identified in patients with Gorlin syndrome
24612059 Serrated colorectal carcinoma as proposed to arise from serrated adenoma is characterized by down regulation of PTCH.
24517962 Germline PTCH1 mutations are linked to nevoid basal cell carcinoma syndrome.
24369017 Protein profiles in the fibroblast conditioned media revealed statistically significant differences between two different types (missense versus nonsense) of PTCH1 mutations.
24368541 Authors report a loss-of-function mutation of PTCH1, a tumor suppressor in the Hh pathway, in a colorectal cancer that exhibits transcriptional upregulation of the downstream Hh gene GLI1.
24335643 Case Report: identical PTCH1 mutations in epithelial and sarcomatoid primary tumor components and sarcomatoid metastasis of basal cell carcinosarcoma.
24204797 Mutations in the PTCH1 transmembrane domain 2 are closely related to the development of sporadic keratocystic odontogenic tumors.
24131384 a noncoding mutation in PTCH-1 may predispose to basal cell carcinoma (case report)
24073265 Variations of PTCH1 gene is associated with Hirschsprung disease.
23951062 Data indicate a significant role of hedgehog receptor PTCH1 and SUFU in the pathogenesis of keratocystic odontogenic tumor (KCOT).
23935859 Data indicate that the Shh signaling transduction is facilitated by binding of Shh to its receptor protein, Ptch, and show the complex structure of Shh-Hhip.
23780909 Our studies identified functionally relevant aberrations at the PTCH1 locus in three of five fetal rhabdomyomas tumours surveyed.
23766265 These results suggest that pathological low flow stimulates smooth muscle cell growth in vitro and vascular remodeling in vivo via Ptc-1 regulation of Notch signaling.
23761049 Increased risk for spina bifida was observed with the G allele of c.3944C>T and the T allele of c.1729trade mark2350G>A in female Chinese patients.
23493353 Data indicate that Shh, Ptch1, Gli1, and Gli2 mRNA expressions were markedly increased in intrahepatic cholangiocellular carcinoma (ICC).
23440386 The data demonstrated that loss of expression of HHIP and PTCH is associated with the methylation of gene promoters
23371028 PTCH1 overexpression was an independent prognostic factor for survival and SMO overexpression which was found in 12.0 % of GC patients.
23349881 SMO and/or PTCH1 mutations are present at low frequency in different histologic subtypes of gastric tumors and these do not appear to be driver mutations.
23317547 All Keratocystic odontogenic tumors with PTCH1 mutations presented the criteria of pathological aggressiveness
23313819 PTCH1 gene polymorphisms is associated with ovarian tumors.
23169491 These findings strongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have a role in the pathogenesis of nephroblastomas.
22952776 novel mutation in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome
22945423 Aberrant methylation of the PTCH1 promoter may be an early, initiating event of colon carcinogenesis.
22911366 High PTCH1 mRNA expression is associated with recurrence of hepatocellular carcinoma.
22829011 PTCH1 germline mutation is associated with nevoid basal cell carcinoma syndrome associated with meningioma.
22797776 Sonic Hedgehog (Shh) protein stimulates cell proliferation and induces internalization of the Patched (Ptch) protein
22456124 PTCH1 expression in the sonic hedgehog pathway was possibly involved in gastric cancer progression and could be an indicator for the prognosis of the disease.
22407314 Expressions of Shh, Ptch1 and Gli1 were significantly correlated with stage, lymph node metastasis, venous invasion, hepatic infiltration, survival rate, and lymphatic invasion in gallbladder carcinoma.
22357618 results indicated that miR-212 was involved in tumorigenesis, and the oncogenic activity of miR-212 in non-small cell lung cancer cells was due, in part, to suppression of PTCH1
22340170 Enhanced PTCH1 expression and activation of the sonic hedgehog pathway are involved in brainstem glioma.
22313357 Mutations and LOH in PTCH1 were also highly prevalent in Chinese sporadic BCCs. However, UV light plays a less role in causing these mutations, suggesting other potential mechanisms in the development of sporadic BCC in Chinese patients
22221699 our findings suggest that loss of heterozygosity in the PTCH region may be relevant to the pathogenesis of ameloblastoma but may target a different gene than PTCH.
22201935 LOH of PTCH1 gene is often found in a series of different tumors, for example basal cell carcinoma (BCC) and ovarian carcinoma (OC
22183980 No somatic mutations were identified in the PTCH1, MLL2, and MLL3 genes in our cohort of hepatoblastoma samples
22077640 Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.
22069255 in both mouse and human pancreas, expression of the inhibitory Ptch1 receptor occurs in delta cells
22007994 we found a novel missense mutation in exon 8 of the PTCH1 gene, which is located on the transmembrane domain of the Patched receptor.
21931618 Patched may contribute to cholesterol efflux from cells
21889114 2 genes of loss, CDKN2B and PTCH1, are associated with poor overall survival in patients with squamous cell carcinoma of the lung and may be useful as prognostic markers
21861243 High PTCH1 protein is associated with bladder cancer progression.
21861228 deregulations of the FANCC-mediated DNA damage repair pathway and the PTCH1-associated sonic hedgehog pathway are associated with the development of early dysplastic head and neck lesions.
21699520 Mutations found in the PTCH1 gene and neighboring repetitive sequences may have contributed to the development of the studied basal cell carcinomas.
21651513 Haploinsufficiency of PTCH may be contributory to the cranial and thoracic neural tube defects in a family with Gorlin syndrome by allowing other genetic or environmental factors to be expressed.
21618411 The PTCH1 pathway activity in ERMS tumors did not correlate with a unique clinical phenotype.
21514272 the 897G-A mutation in the PTCH1 gene is the cause of nevoid basal cell carcinoma syndrome in the Chinese family and works by altering the protein activity of PTCH1, which then activates the Shh/Gli signaling pathway.
21507611 mutation causes one highly conserved glycine residue transit to arginine on the 10th transmembrane region of PTCH protein.
21424326 High patched protein expression is associated with colon cancer.
21389835 Neither CYLD nor PTCH germline mutations were found in the 5 patients with Multiple familial trichoepitheliomas
21368767 Five novel PTCH1 mutations induce truncation of the PTCH1 protein or could induce nonsense-mediated mRNA decay.
21266456 Ptch1 overexpression underlies derangement of the sonic hedgehog pathway in trisomic neural precursor cells with consequent proliferation impairment
21234763 Our results did not reveal any clearly deleterious inactivating PTCH1 mutations in our collection of colorectal serrated adenocarcinomas
21210781 analyzed 32 nevoid basal cell carcinoma syndrome families and identified entire deletions of PTCH1 in 5 families
21206974 Methylation of the PTCH promoter is not a high-prevalence feature of squamous cell cervical cancer or ovarian cancer.
21188685 A novel nonsense mutation in the PTCH gene was found. We report the occurrence of epiretinal membranes and the persistence of myelinated nerve fibers.
21188540 both PTCH1 and SUFU play a key role in the sonic hedgehog signalling pathway, PTCH1 does not make an appreciable contribution to non-familial sporadic medulloblastoma.
21138481 There was loss in at least 1 locus in 5/7 KOT and 4/7 OOC. present finding demonstrates despite existence of clinical, morphological, immunohistochemical, biological behavior differences between OOC and KOT, both have similar genetic alterations at 9q.
21129534 Activation of the Hh signaling pathway in neuroblastoma & ganglioneuroblastoma may be associated with the differentiation. 79% of the cases were positive for Ptch1 expression.
21127038 High PTCH1 is associated with chemoradiotherapy sensitivity in esophageal squamous cell carcinomas.
21059263 sonic hedgehog-GLI1 downstream target genes PTCH1, Cyclin D2, Plakoglobin, PAX6 and NKX2.2 are differently regulated in medulloblastoma and astrocytoma
20937227 The expression level of SMO in NPC is generally high, but the expression level of PTCH-1 was relatively low.
20858761 These data confirm the role of Ptch1 as a negative regulator of epidermal progenitor turnover and that Ptch1 plays a role in the differentiation of the hair follicle
20690502 4 novel and 2 known mutations were identified in 2 sporadic and 3 syndromic cases, 2 of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T).
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20609239 PTCH germ line mutation is associated with Gorlin syndrome associated with small bowel carcinoma.
20583170 Observational study of gene-disease association. (HuGE Navigator)
20561215 proteins of the SHH signaling pathway are predominantly located within the epithelial components of GOCs and DCs. SHH signaling pathway may play a role in epithelial lining formation.
20546612 Observational study of gene-disease association. (HuGE Navigator)
20546211 Derangements in the hedgehog signalling pathway in the form of mutations in PTCH1 cause Gorlin syndrome, and it is now evident that derangements in this and other members of this pathway are involved in sporadic basal cell carcinoma development.
20538960 Observational study of gene-disease association. (HuGE Navigator)
20371205 These results are the first to implicate the Sonic hedgehog pathway in the pathogenesis of the calcifying epithelial odontogenic tumor through sequencing.
20346027 results do not support the hypothesis that common polymorphisms in the proximal 5' regulatory region of the PTCH1 gene could represent an important risk factor for basal cell carcinoma after organ transplantation.
20346027 Observational study of gene-disease association. (HuGE Navigator)
20068110 PTCH1 gene alternation may play a significant role in the pathogenesis of nevoid basal cell carcinoma syndrome and the related sporadic tumors.
20050020 PTCH1 is preferentially expressed by human bulge cells, compared to differentiated hair follicle keratinocytes
20012784 Screening for BRAF, RET, KRAS, NRAS, and HRAS mutations, as well as RET-PTC1 and RET-PTC3 rearrangements, was performed on cases of Hashimoto thyroiditis with a dominant nodule
20010835 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19937600 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19730683 Observational study of gene-disease association. (HuGE Navigator)
19728145 The mutation of 3146A-->T may be the cause of high expression of GLI and permit SMO to transmit signal to the nucleus through SHH/PTCH/SMO pathway.
19673023 Data show that methylation of PTCH1a transciptional regulation region is present in a subset of gastric cancers and correlated negatively with PTCH1 expression.
19618880 Our detection rate of PTCH1 mutations, i.e., 86%, was much higher than those previously reported from other countries. The differences may be derived either from ethnicity or the detection methods.
19564910 Studies suggest that Hh binding to Ptc leads to the de-repression of the GPCR-related protein Smo.
19557015 These data indicated that all the six families who were diagnosed with Basal cell nevus syndrome (BCNS) had mutations in the PTCH1 gene and that a single copy of a PTCH1 mutation causes BCNS.
19521425 PTCH genes were analyzed by direct sequencing of the PCR product from DNA, and previously unreported mutations were identified in Nevoid basal cell carcinoma syndrome patients.
19473442 This study found that the majority of all types of lesions, ranging from the benign but locally aggressive ameloblastoma through the varieties of odontogenic keratocysts, expressed PTCH throughout the width of the epithelial component.
19465923 Data suggest that in the absence of its ligand Shh the dependence receptor Patched serves as the anchor for a caspase-activating complex that includes DRAL, and caspase-9.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19414732 We report a case of medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome.
19362041 results suggest that PTCH1 mutations, particularly those causing protein truncations, are associated with a subgroup of OKCs showing increased proliferative activity and thus may relate to a phenotype of higher recurrent tendency.
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19287961 p16 and PTCH have roles in pathogenesis of melanoma and basal cell carcinoma
19287498 data indicate that the PTCH1(+/-) genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients
19266077 Observational study of gene-disease association. (HuGE Navigator)
19221557 Observational study of gene-disease association. (HuGE Navigator)
19213072 Ptc1 loss of function is complete, but achieved at the protein level in cerebellar tumor development
19077462 survival analysis revealed that Ptc expression in grade 2 and PDX-1 expression in grade 3 carcinomas are independent survival factors.
19074885 Observational study of gene-disease association. (HuGE Navigator)
19008023 2 novel PTCH1 mutations (3146A-->T, 1686C-->T) were identified in all 5 affected members. The mutation, 3146A-->T in exon 17, is predicted to lead to different PTCH protein translations. 1686C-->T mutation in exon 11 is a nonsense mutation.
19002359 study reports three cases of naevoid basal cell carcinoma syndrome in a family with two mutations and one single nucleotide polymorphism in PTCH1
18990233 Differential association of alterations in FANCC and PTCH1 with that of PHF2, XPA and two breast cancer susceptibility genes (BRCA1/BRCA2) in the two age groups suggests differences in their molecular pathogenesis.
18854826 azathioprine exposure may be associated with PTCH mutations
18854826 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18754037 Hh target genes GLI1 and PTCH1 are not expressed in lesional psoriatic skin
18679421 The physiological impact of constitutive heterozygous PATCHED mutations in primary human keratinocytes; mechanism of haploinsufficiency leading to cancer proneness.
18543049 Constitutive activation of the hedgehog signaling pathway in chondrosarcoma is rarely caused by PTCH-1 mutation.
18538319 PTCH is involved in early stage tumor development and the Hh pathway in Chinese HCC is activated by ligand expression but not by mutation.
18538319 Observational study of gene-disease association. (HuGE Navigator)
18502968 mutations are frequent in PTCH1 in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors
18436435 A novel germ-line mutation of the PTCH1 gene in a Japanese family with nevoid basal cell carcinoma syndrome is reported.
18391952 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18302678 Frequent germline PTCH mutations detected in this series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
18272036 one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
18068533 there was no evidence of methylation in the PTCH1-1B promoter in the MB cases examined, nor was there methylation in the control cerebellum samples.
18068337 A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.
18059486 prevalence of PTCH and p53 mutations for basal cell carcinoma is 63% and 46% in psoralen /UVA associated cancer
17950424 A patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene.
17597822 a (UV-) mutated PTCH gene is important for sporadic BCC formation independent of clinical phenotype and the IVS16-80G/C and/or IVS17+21G/A SNP site might be important for tumorigenesis in certain BCC patients
17597182 PTCH mutations are not mainly involved in the pathogenesis of sporadic trichoblastomas
17487419 Patched gene is epigenetically regulated in ovarian dermoids and fibromas, but not in basocellular carcinomas.
17461467 Shh-Ptch1-Gli1 signaling pathway may play a role in the progression of colorectal tumor.
17295047 Reduced expression of PTCH is associated with breast cancer
17258529 Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X), the gene associated with Gorlin syndrome.
16934747 Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas
16931872 defects are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts
16867986 the upstream part of the Hedgehog pathway involving Hedgehog interaction with Patched, regulation of Smoothened by Patched, and Smoothened enrichment at the plasma membrane is highly conserved between Drosophila and humans
16804411 aberrant expressions of PTCH and Smo were common in pancreatic carcinoma tissues & were associated with low-level differentiation of tumor tissue & hyperglycemia; this indicated that these molecules played a fundamental role in pancreas tumorigenesis
16780502 novel insertion mutation in exon 6 of the PTCH gene was identified in a Korean family with naevoid basal cell carcinoma syndrome
16777989 alteration of both p53 and PTCH genes is likely to play a role in radiation-induced basal cell carcinogenesis
16675912 Germline mutations on PTCH can cause isolated odontogenic cyst, and this PTCH gene responsible for nevoid basal cell carcinoma syndrome plays an important role in the formation of odontogenic cyst.
16645598 Observational study of gene-disease association. (HuGE Navigator)
16645598 Our data show that MC1R and PTCH variants are associated with basal cell carcinoma (BCC) risk in the French population.
16419085 analysis of PTCH mutations in nevoid basal cell carcinoma syndrome [review]
16322088 Patched-expressing cells have been identified among endodermally lineage-restricted, murine embryonic stem cells as well as in livers of fetal and adult Ptc-lacZ mice.
16203740 Isoforms - novel exon, exon 12b, was specifically expressed in the brain and heart, especially in the cerebellum. Also, disease-associated aberrant splicings found in two patients with nevoid basal cell carcinoma syndrome.
16109989 possible relationship between the CGG8 allele in PTCH1 and the risk for ameloblastoma
16088933 analysis of missense mutations in the PTCH gene which may be responsible for Nevoid Basal Cell Carcinoma Syndrome
15905200 Elevated expression of hedgehog target genes human patched gene 1 (PTCH1) or Gli1 occurs in 63 of the 99 primary gastric cancers.
15888139 Observational study of gene-disease association. (HuGE Navigator)
15780749 Seven isoforms of human PTCH mRNA were identified.
15712338 9 new mutations wew found: c.1436T>G p.L479R; c.1138G>T p.E380X; c.323_324ins2; c.2011_2012dup; c.2535_2536dup; c.2577_2583del, c.3000_3005del; c.3050_3051del; & c.6552A>T.
15598212 Observational study of gene-disease association. (HuGE Navigator)
15592520 ptc1 mutations and truncation are responsible for the majority of basal cell carcinoma (BCC) cases.
15581634 Data show that in both human and mouse a novel Patched homolog 1 first exon (1C) is expressed.
15565302 No phenotype-genotype relationships were found in the Japanese nevoid basal cell carcinoma syndrome patients
15534865 Observational study of gene-disease association. (HuGE Navigator)
15502856 Papillary carcinomas with high RET/PTC1 expression showed an association trend for large tumor size.
15492847 cDNA microarray analysis performed on cell lines derived from ovarian dermoid cysts did not show any significant alteration in the expression of the analyzed target genes of PTCH signaling.
15459969 thirteen novel mutations identified in the mutational screening of nevoid basal cell carcinoma syndrome patients in Italy
15308259 mutations are probably related not only to basal cell nevus-associated odontogenic keratocysts but also to sporadic odontgenic keratocysts
12925203 Nineteen novel mutations and five new polymorphisms were identified
12516098 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12516098 The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk
12407090 odontogenic keratocysts arise with heterozygous mutations of the gene
12241103 Patched expression in human astrocytic tumors inversely correlates with histological malignancy
12192414 results suggest that the Ptc tumour suppressor functions normally as a transmembrane molecular transporter, which acts indirectly to inhibit Smo activity
12007715 Mutations for basal cell carcinoma (BCC), were screened in 15 cases of sporadic BCCs that developed in sun-exposed skin region in a Korean population
11836379 No germline PTCH mutations have been identified in 8 subjects with Birt-Hogg-Dube syndrome, suggesting that PTCH should be excluded as a candidate gene for BHD.

AA Sequence

MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKA      1 - 70
TGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSREL     71 - 140
NYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELI    141 - 210
TETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEE    211 - 280
MLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNS    281 - 350
TGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL    351 - 420
SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSL    421 - 490
IGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFF    491 - 560
MAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAY    561 - 630
TDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQ    631 - 700
SPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTR    701 - 770
VRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQL    771 - 840
PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDA    841 - 910
DGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNG    911 - 980
LRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNP    981 - 1050
WTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALE   1051 - 1120
HMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGL   1121 - 1190
NRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATE   1191 - 1260
NPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGH   1261 - 1330
SGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPG   1331 - 1400
YPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN                          1401 - 1447
//

Text Mined References (224)

PMID Year Title
27245001 [Dose-Response Dependences for Frequency of RET/PTC Gene Rearrangements in Papillary Thyroid Carcinoma after Irradiation. Simple Pooling Analysis of Molecular Epidemiological Data].
27125030 [The Cytoskelrtal Protein Zvxin Interacts with the Hedgehog Receptor Patched].
26997450 2016 Aberrant expression of Sonic hedgehog signaling in Peutz-Jeghers syndrome.
26733130 2016 Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.
26290144 2015 CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.
26189965 2015 Melittin induces PTCH1 expression by down-regulating MeCP2 in human hepatocellular carcinoma SMMC-7721 cells.
26126827 2015 A Functional and Putative Physiological Role of Calcitriol in Patched1/Smoothened Interaction.
26038600 2015 The role of ciliary trafficking in Hedgehog receptor signaling.
25826662 2015 Regulation of human PTCH1b expression by different 5' untranslated region cis-regulatory elements.
25727044 2015 Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report.
25595896 2015 Temozolomide resistance in glioblastoma occurs by miRNA-9-targeted PTCH1, independent of sonic hedgehog level.
25458233 2015 Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
25395299 2015 PTCH1 mutation is a frequent event in oesophageal basaloid squamous cell carcinoma.
25330948 2015 Inactivation of PTCH1 is associated with the development of cervical carcinoma: clinical and prognostic implication.
25292199 2015 Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival.
25283809 2014 Ligand binding to WW tandem domains of YAP2 transcriptional regulator is under negative cooperativity.
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
25092867 2014 Patched-1 proapoptotic activity is downregulated by modification of K1413 by the E3 ubiquitin-protein ligase Itchy homolog.
25027328 2014 Deficiency of patched 1-induced Gli1 signal transduction results in astrogenesis in Swedish mutated APP transgenic mice.
24961235 2014 miR-212 promotes pancreatic cancer cell growth and invasion by targeting the hedgehog signaling pathway receptor patched-1.
24942795 2014 Biallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in Japanese patients with nevoid basal cell carcinoma syndrome.
24840883 2014 The large intracellular loop of ptch1 mediates the non-canonical Hedgehog pathway through cyclin B1 in nevoid basal cell carcinoma syndrome.
24805933 2014 Epigenetic high regulation of ATAD2 regulates the Hh pathway in human hepatocellular carcinoma.
24733827 2014 Hedgehog pathway as a potential treatment target in human cholangiocarcinoma.
24710823 2014 Activation of hedgehog signaling pathway in human non-small cell lung cancers.
24668667 2014 Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients.
24659465 2014 Intronic splicing mutations in PTCH1 cause Gorlin syndrome.
24612059 2014 Distinct profile of HIF1?, PTCH, EphB2, or DNA repair protein expression and BRAF mutation in colorectal serrated adenoma.
24517962 2015 Myogenic tumors in nevoid Basal cell carcinoma syndrome.
24369017 2013 Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.
24368541 2013 A loss-of-function mutation in PTCH1 suggests a role for autocrine hedgehog signaling in colorectal tumorigenesis.
24335643 2014 Basal cell carcinosarcoma with PTCH1 mutations in both epithelial and sarcomatoid primary tumor components and in the sarcomatoid metastasis.
24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
24131384 2013 A non-coding mutation in the 5' untranslated region of patched homologue 1 predisposes to basal cell carcinoma.
24073265 2013 Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.
23951062 2013 Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features.
23935859 2013 Molecular dynamics simulations of sonic hedgehog-receptor and inhibitor complexes and their applications for potential anticancer agent discovery.
23780909 2013 Mutations in Hedgehog pathway genes in fetal rhabdomyomas.
23766265 2013 Inhibition of patched-1 prevents injury-induced neointimal hyperplasia.
23761049 2013 Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.
23493353 2013 The prognostic significance and therapeutic potential of hedgehog signaling in intrahepatic cholangiocellular carcinoma.
23440386 2013 Altered expression of PTCH and HHIP in gastric cancer through their gene promoter methylation: novel targets for gastric cancer.
23371028 2013 Gastric cancer (GC) patients with hedgehog pathway activation: PTCH1 and GLI2 as independent prognostic factors.
23349881 2013 Mutations in the hedgehog pathway genes SMO and PTCH1 in human gastric tumors.
23317547 2013 PTCH1 mutation and local aggressiveness of odontogenic keratocystic tumors in children: is there a relationship?
23313819 2013 PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele.
23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
23169491 2013 Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
22952776 2012 Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.
22945423 2013 Aberrant methylation of the PTCH1 gene promoter region in aberrant crypt foci.
22911366 2013 High expression of patched homolog-1 messenger RNA and glioma-associated oncogene-1 messenger RNA of sonic hedgehog signaling pathway indicates a risk of postresection recurrence of hepatocellular carcinoma.
22829011 2012 Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.
22797776 2012 The Hedgehog signaling pathway in ovarian teratoma is stimulated by Sonic Hedgehog which induces internalization of Patched.
22456124 2012 Activation of the sonic hedgehog pathway and its prognostic impact in patients with gastric cancer.
22407314 2012 Immunohistochemical evidence of the prognostic value of hedgehog pathway components in primary gallbladder carcinoma.
22357618 2012 MicroRNA-212 displays tumor-promoting properties in non-small cell lung cancer cells and targets the hedgehog pathway receptor PTCH1.
22340170 2011 Expression and significance of sonic hedgehog signaling pathway-related components in brainstem and supratentorial astrocytomas.
22313357 2013 Unique features of PTCH1 mutation spectrum in Chinese sporadic basal cell carcinoma.
22221699 2012 Loss of heterozygosity of the PTCH gene in ameloblastoma.
22201935 2012 LOH of PTCH1 region in BCC and ovarian carcinoma: microsatellite vs. HRM analysis.
22183980 2012 Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma.
22077640 2012 Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.
22069255 2011 Delta-cell-specific expression of hedgehog pathway Ptch1 receptor in murine and human endocrine pancreas.
22007994 2012 Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene.
21931618 2011 The hedgehog receptor patched is involved in cholesterol transport.
21889114 2011 Association of copy number loss of CDKN2B and PTCH1 with poor overall survival in patients with pulmonary squamous cell carcinoma.
21861243 2012 Expression of hedgehog pathway components is associated with bladder cancer progression and clinical outcome.
21861228 2012 Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck.
21699520 2011 PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas.
21651513 2012 Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.
21618411 2011 Hedgehog pathway activity in pediatric embryonal rhabdomyosarcoma and undifferentiated sarcoma: a report from the Children's Oncology Group.
21537345 2011 Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
21514272 2011 A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.
21507611 2011 One germline mutation of PTCH gene in a Chinese family with non-syndromic keratocystic odontogenic tumours.
21424326 2012 Prognostic value of hedgehog signaling pathway in patients with colon cancer.
21389835 2011 Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
21368767 2011 Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.
21266456 2011 APP-dependent up-regulation of Ptch1 underlies proliferation impairment of neural precursors in Down syndrome.
21234763 2011 Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.
21210781 2011 Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan.
21206974 2011 Promoter methylation in the PTCH gene in cervical epithelial cancer and ovarian cancer tissue as studied by eight novel Pyrosequencing® assays.
21188685 Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders.
21188540 2011 Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
21138481 2011 Evidence of loss of heterozygosity of the PTCH gene in orthokeratinized odontogenic cyst.
21129534 2010 Hedgehog signaling pathway in neuroblastoma differentiation.
21127038 2011 Correlation of hedgehog signal activation with chemoradiotherapy sensitivity and survival in esophageal squamous cell carcinomas.
21059263 2010 Regulation of sonic hedgehog-GLI1 downstream target genes PTCH1, Cyclin D2, Plakoglobin, PAX6 and NKX2.2 and their epigenetic status in medulloblastoma and astrocytoma.
20937227 2010 [Expression of PTCH-1 and SMO mRNA in nasopharyngeal carcinoma].
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20858761 2010 Patched1 inhibits epidermal progenitor cell expansion and basal cell carcinoma formation by limiting Igfbp2 activity.
20690502 2009 Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20609239 2010 Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
20561215 2010 Immunohistochemical expression of SHH, PTC, SMO and GLI1 in glandular odontogenic cysts and dentigerous cysts.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
20546211 2010 Genetics of basal cell carcinoma.
20538960 2010 A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
20371205 2010 Involvement of PTCH1 mutations in the calcifying epithelial odontogenic tumor.
20346027 2010 PTCH1 gene haplotype association with basal cell carcinoma after transplantation.
20237162 2010 Chemerin, a novel adipokine in the regulation of angiogenesis.
20068110 2010 Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
20050020 2009 Hedgehog signaling maintains hair follicle stem cell phenotype in young and aged human skin.
20012784 2010 Absence of BRAF, NRAS, KRAS, HRAS mutations, and RET/PTC gene rearrangements distinguishes dominant nodules in Hashimoto thyroiditis from papillary thyroid carcinomas.
20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
19937600 2010 Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19730683 2009 The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
19728145 2010 Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome.
19673023 2009 Methylation of PTCH1a gene in a subset of gastric cancers.
19618880 2009 [PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].
19564910 2009 The hedgehog signaling pathway: where did it come from?
19561609 2009 The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling.
19557015 2009 Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
19521425 2009 Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.
19473442 2009 The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts.
19465923 2009 The Patched dependence receptor triggers apoptosis through a DRAL-caspase-9 complex.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19414732 2009 Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome.
19362041 2009 PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation?
19351817 2009 Genetic mutations associated with cigarette smoking in pancreatic cancer.
19287961 2009 Involvement of p16 and PTCH in pathogenesis of melanoma and basal cell carcinoma.
19287498 2009 PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts.
19266077 2009 Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.
19221557 2009 [Studies on keratocystic odontogenic tumors].
19213072 2009 Bortezomib reverses a post-translational mechanism of tumorigenesis for patched1 haploinsufficiency in medulloblastoma.
19077462 2009 The expression pattern of PDX-1, SHH, Patched and Gli-1 is associated with pathological and clinical features in human pancreatic cancer.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
19008023 2009 New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
19002359 2008 Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome.
18990233 2008 Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.
18854826 2008 PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients.
18754037 2009 Lack of evidence for activation of the hedgehog pathway in psoriasis.
18679421 2008 Heterozygous mutations in the tumor suppressor gene PATCHED provoke basal cell carcinoma-like features in human organotypic skin cultures.
18543049 2008 Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.
18538319 2008 Expression patterns and polymorphisms of PTCH in Chinese hepatocellular carcinoma patients.
18502968 2008 PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
18436435 2008 A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma?
18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.
18302678 2008 PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
18272036 2008 A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.
18068533 2008 Methylation of PTCH1, the Patched-1 gene, in a panel of primary medulloblastomas.
18068337 2008 A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.
18059486 2008 Nonmonoclonal PTCH gene mutations in psoralen plus UVA-associated basal cell carcinomas.
17950424 2007 New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.
17850284 2007 Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development.
17597822 2007 UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype.
17597182 2007 PTCH mutations are not mainly involved in the pathogenesis of sporadic trichoblastomas.
17487419 2007 The Patched gene is epigenetically regulated in ovarian dermoids and fibromas, but not in basocellular carcinomas.
17461467 2007 Sonic hedgehog-Gli1 pathway in colorectal adenocarcinomas.
17310997 2007 Distinct roles of first exon variants of the tumor-suppressor Patched1 in Hedgehog signaling.
17295047 2007 Unmasking of epigenetically silenced genes reveals DNA promoter methylation and reduced expression of PTCH in breast cancer.
17258529 2007 Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
16945339 2006 Identification and characterization of Hedgehog modulator properties after functional coupling of Smoothened to G15.
16934747 2006 Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas.
16931872 2006 PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts.
16867986 2006 Human receptors patched and smoothened partially transduce hedgehog signal when expressed in Drosophila cells.
16804411 2006 Aberrant expression of PTCH (patched gene) and Smo (smoothened gene) in human pancreatic cancerous tissues and its association with hyperglycemia.
16780502 2007 Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome.
16777989 2006 Molecular basis of basal cell carcinogenesis in the atomic-bomb survivor population: p53 and PTCH gene alterations.
16675912 2006 Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
16645598 2006 MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.
16419085 2006 PTCH mutations: distribution and analyses.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16322088 2006 Hedgehog signaling maintains resident hepatic progenitors throughout life.
16229683 2006 Inhibition of GLI1 gene activation by Patched1.
16203740 2005 Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.
16109989 2005 Polymorphisms in PTCH1 affect the risk of ameloblastoma.
16088933 2005 DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
15905200 2005 Frequent activation of the hedgehog pathway in advanced gastric adenocarcinomas.
15888139 2005 PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer.
15780749 2005 Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons.
15769472 2005 Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking.
15712338 2005 Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
15598212 2004 Susceptibility to basal cell carcinoma: associations with PTCH polymorphisms.
15592520 2005 Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC.
15581634 2004 A novel first exon of the Patched1 gene is upregulated by Hedgehog signaling resulting in a protein with pathway inhibitory functions.
15565302 2005 Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
15534865 2004 PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: preliminary data on the influence of an exon 12-exon 23 haplotype.
15502856 2004 Real-time quantitative RT-PCR identifies distinct c-RET, RET/PTC1 and RET/PTC3 expression patterns in papillary thyroid carcinoma.
15492847 2004 Analysis of the PTCH1 signaling pathway in ovarian dermoids.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15459969 2004 Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
15308259 2004 PTC gene mutations and expression of SHH, PTC, SMO, and GLI-1 in odontogenic keratocysts.
15164053 2004 DNA sequence and analysis of human chromosome 9.
12925203 2003 Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.
12874272 2003 Requirement of the co-repressor homeodomain-interacting protein kinase 2 for ski-mediated inhibition of bone morphogenetic protein-induced transcriptional activation.
12635140 2003 Expression of the developmental Sonic hedgehog (Shh) signalling pathway is up-regulated in chronic lung fibrosis and the Shh receptor patched 1 is present in circulating T lymphocytes.
12516098 2003 The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12407090 2002 Immunolocalization of PTCH protein in odontogenic cysts and tumors.
12241103 2002 Patched and smoothened mRNA expression in human astrocytic tumors inversely correlates with histological malignancy.
12204003 2002 Analysis of the PTCH coding region in human rhabdomyosarcoma.
12203113 2002 Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 protein.
12192414 2002 Patched acts catalytically to suppress the activity of Smoothened.
12007715 2002 Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias.
11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
11836379 2002 Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome.
11718263 2001 A mouse model for medulloblastoma and basal cell nevus syndrome.
11331587 2001 Patched1 interacts with cyclin B1 to regulate cell cycle progression.
11286632 2001 PTCH mutations in squamous cell carcinoma of the skin.
11278759 2001 The sonic hedgehog receptor patched associates with caveolin-1 in cholesterol-rich microdomains of the plasma membrane.
11231326 2001 Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.
11001584 2000 The sonic hedgehog-patched-gli pathway in human development and disease.
10874314 2000 Identification of PATCHED mutations in medulloblastomas by direct sequencing.
10200051 1998 Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.
9926943 1999 Functional association of TGF-beta receptor II with cyclin B.
9811851 1998 Characterization of two patched receptors for the vertebrate hedgehog protein family.
9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.
9341860 1997 Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
8906787 1996 The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
8782823 1996 The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
8681379 1996 Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
8658145 1996 Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
8647801 1996 A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities.
1348213 1992 Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.