Property Summary

NCBI Gene PubMed Count 23
Grant Count 13
R01 Count 5
Funding $1,279,463.57
PubMed Score 152.90
PubTator Score 48.52

Knowledge Summary

Patent

No data available

Expression

 GWAS Trait (1)

Gene RIF (12)

PMID Text
25927242 Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation.
25517604 Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder.
24127550 Findings are unprecedented and indicate that the DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML.
23786321 Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis.
22514309 This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development.
22123293 Studies indicate that pathways of Hedgehog (Hh), Wnt and Notch, which regulate development during embryonic life and somatic stem cells (SCs) in the adult organism, can be reactivated in malignancies and support tumor-initiating cells (TIC) scompartment.
21816240 Two cases have been described in Indian patients with 46,XY complete gonadal dysgenesis that could be attributable to mutations in the Desert hedgehog (DHH) gene leading to non-functional DHH protein.
21193222 We found no significant correlation between the expression of SOX9 and desert hedgehog, and neither SOX9 nor desert hedgehog expression was correlated to the histoprognostic grade in sarcomas.
19074837 Hh signaling is important in the pathogenesis of B-CLL and, hence, may be a potential therapeutic target
18788453 its signal transduction regulates tumor development. (review)
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AA Sequence

MALLTNLLPLCCLALLALPAQSCGPGRGPVGRRRYARKQLVPLLYKQFVPGVPERTLGASGPAEGRVARG      1 - 70
SERFRDLVPNYNPDIIFKDEENSGADRLMTERCKERVNALAIAVMNMWPGVRLRVTEGWDEDGHHAQDSL     71 - 140
HYEGRALDITTSDRDRNKYGLLARLAVEAGFDWVYYESRNHVHVSVKADNSLAVRAGGCFPGNATVRLWS    141 - 210
GERKGLRELHRGDWVLAADASGRVVPTPVLLFLDRDLQRRASFVAVETEWPPRKLLLTPWHLVFAARGPA    211 - 280
PAPGDFAPVFARRLRAGDSVLAPGGDALRPARVARVAREEAVGVFAPLTAHGTLLVNDVLASCYAVLESH    281 - 350
QWAHRAFAPLRLLHALGALLPGGAVQPTGMHWYSRLLYRLAEELLG                            351 - 396
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Text Mined References (23)

PMID Year Title
25927242 2015 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
25517604 2014 A genetic variant in 12q13, a possible risk factor for bipolar disorder, is associated with depressive state, accounting for stressful life events.
24127550 2013 DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia.
23786321 2013 In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
22514309 2012 Desert hedgehog links transcription factor Sox10 to perineurial development.
22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
22123293 2012 Developmental pathways in breast cancer and breast tumor-initiating cells: therapeutic implications.
21816240 Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
21193222 2011 SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog.
20519495 2010 All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner.
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