DHH Antibody

1. Whole-exome sequencing revealed a homozygous variant in DHH leading to the p.Trp173Cys substitution. The relevant Trp residue is conserved, and its alteration was predicted to be deleterious. Molecular dynamics simulations showed that the mutation increases the conformational flexibility of the protein PMID: 28708305
2. Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder. PMID: 25517604
3. Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. PMID: 25927242
4. 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. PMID: 24127550
5. Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis. PMID: 23786321
6. This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development. PMID: 22514309
7. 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. PMID: 22123293
8. 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. PMID: 21816240
9. 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. PMID: 21193222
10. These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves PMID: 11990454
11. Importance of DHH in mammalian male sexual differentiation, providing extended evidence that DHH constitutes a key gene in gonadal differentiation PMID: 16390857
12. its signal transduction regulates tumor development. (review) PMID: 18788453
13. Hh signaling is important in the pathogenesis of B-CLL and, hence, may be a potential therapeutic target PMID: 19074837

Show More

Hide All

HGNC: 2865

OMIM: 233420

KEGG: hsa:50846

STRING: 9606.ENSP00000266991

UniGene: Hs.524382