Property Summary

NCBI Gene PubMed Count 39
PubMed Score 105.61
PubTator Score 67.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 2.250 6.0e-05

Gene RIF (20)

PMID Text
24770546 Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition.
24446295 No significant association was observed between IDD and allele or genotype frequencies, or the haplotype of the 5 SNPs of the FGD1 gene in the Chinese population.
23443263 Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother with Aarskog syndrome.
23211637 A novel mutation in exon 6 (G1341A substituting tryptophan with a stop codon at amino acid position 447) may have influenced the clinical phenotype of these 5 patients with Aarskog-Scott syndrome.
23169394 branch point variant in FGD1 identified by exome sequencing in Aarskog-Scott syndrome
22876573 The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development.
22854039 Authors discuss the hypothesis that FGD1 might be an important regulator of events controlling extracellular matrix remodelling and possibly cell invasion in physiological and pathological settings.
21739585 This is the first report of inheritance by germline mosaicism for the FGD1 gene
21356349 These results demonstrate an important role for FGD1/Cdc42 signaling in human mesenchymal stem cells osteogenesis.
21212517 This study showed that the proline-rich doman of FGD1 is critical for persistent cell migration; FGD1 also augments EGF-stimulated c-Jun NH(2)-terminal kinase (JNK) activation.
20607856 Mutations in the FGD1 gene is not associated with Aarskog syndrome.
20082460 analysis of nine novel mutations of the FGD1 gene in Aarskog-Scott syndrome
19261807 FGD1 is preferentially associated with the trans-Golgi network (TGN), suggesting its involvement in export of proteins from the Golgi.
19141649 Findings suggest a central role for Fgd1 in the focal degradation of the ECM in vitro and, for the first time, show a connection between Fgd1 and cancer progression, proposing that it might function during tumorigenesis.
19110080 First case of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
17847065 Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases
16688726 Neurobehavioral disorders are described in two unrelated boys with Aarskog-Scott syndrome affected by novel FGD1 mutations.
15743413 a novel target of the SCF(FWD1/beta-TrCP) ubiquitin ligase
15327482 alleles include one with an extra exon in intron 8 and one with an extra exon in intron 7, both with premature termination
11940089 non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1

AA Sequence

MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQFVGPSDTSLGA      1 - 70
APGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPP     71 - 140
TETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAA    141 - 210
VSSLIEKFEREPVIVASDRPVPGPSPGPPEPVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPN    211 - 280
RDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEE    281 - 350
KDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG    351 - 420
IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVELVNTWTERSTQ    421 - 490
FKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNA    491 - 560
AIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVPRLRLLG    561 - 630
QKFSVRARIDVDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKL    631 - 700
LNSTNREDEDTPPNSPNVDLGKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRAR    701 - 770
LVYDNNRSNRVCTDCYVALHGVPGSSPACSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHK    771 - 840
AWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWYFSPETEELQR    841 - 910
RWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDKT                       911 - 961
//

Text Mined References (43)

PMID Year Title
24770546 2014 Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
24446295 2014 No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
23443263 2013 A novel mutation in a mother and a son with Aarskog-Scott syndrome.
23211637 2013 Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23169394 2013 Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
22876573 2012 X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
22854039 2012 FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
21739585 2011 Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
21356349 2011 The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.
21212517 2011 Role of FGD1, a Cdc42 guanine nucleotide exchange factor, in epidermal growth factor-stimulated c-Jun NH2-terminal kinase activation and cell migration.
20607856 2010 Familial syndrome resembling Aarskog syndrome.
20082460 2010 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19261807 2009 Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
19141649 2009 Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer.
19110080 First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17847065 2007 Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.
17564959 2007 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
16688726 2006 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
15772651 2005 The DNA sequence of the human X chromosome.
15743413 2005 The FWD1/beta-TrCP-mediated degradation pathway establishes a 'turning off switch' of a Cdc42 guanine nucleotide exchange factor, FGD1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15327482 2004 Novel alternative splicing of human faciogenital dysplasia 1 gene.
14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
12913069 2003 Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
12787561 Ten years on: mediation of cell death by the common neurotrophin receptor p75(NTR).
12673651 2003 Crane-Heise syndrome: a second familial case report with elaboration of phenotype.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12376548 2002 NRAGE, a p75 neurotrophin receptor-interacting protein, induces caspase activation and cell death through a JNK-dependent mitochondrial pathway.
11940089 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
11756498 2002 Activation of Rac GTPase by p75 is necessary for c-jun N-terminal kinase-mediated apoptosis.
11181572 2001 Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane.
11093277 2000 Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
10930571 2000 A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
10906777 2000 Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).
9268645 1997 Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.
8994827 1996 Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases.
8969170 1996 The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.
8268928 1993 Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
7954831 1994 Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.