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Whole-exome sequencing revealed a homozygous variant in DHH leading to the p.Trp173Cys substitution. The relevant Trp (show TBPL1 Proteins) 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
Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder.
Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation.
Findings are unprecedented and indicate that the DHH-RHEBL1 (show RHEBL1 Proteins) fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3 (show CBFA2T3 Proteins)-GLIS2 (show GLIS2 Proteins)-positive childhood AML (show RUNX1 Proteins).
Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis.
This study demonistrated that Desert hedgehog links transcription factor Sox10 (show SOX10 Proteins) to peripheral nerve development.
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.
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.
We found no significant correlation between the expression of SOX9 (show SOX9 Proteins) and desert hedgehog, and neither SOX9 (show SOX9 Proteins) nor desert hedgehog expression was correlated to the histoprognostic grade in sarcomas.
These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves
characterized two new members of the Hedgehog (show SHH Proteins) (Hh) family in zebrafish, ihha and dhh, encoding for orthologues of the tetrapod Indian Hedgehog (Ihh (show IHH Proteins)) and Desert Hedgehog (Dhh) genes, respectively
the critical role of Dhh in maintaining blood nerve barrier integrity and demonstrates for the first time that endothelial dysfunction is sufficient to induce neuropathy
In organogenesis of the ovary, production of Dhh/Ihh (show IHH Proteins) in granulosa cells requires growth differentiation factor 9 (show GDF9 Proteins) from the oocyte.
The results demonstrate a pivotal role for dhh in maintof this study aining myelination. Furthermore, dhh signaling reveals a potential target for therapeutic intervention to prevent and treat demyelination of peripheral nerves in compression neuropathies
Hedgehog (show SHH Proteins) signaling is impaired in aged mice. Hegdehog-dependent regulation of angiogenesis and myogenesis involves distinct mechanisms.
Data indicate that the centrosomal protein DZIP1 (show DZIP1 Proteins) interacts with GLI3 (show GLI3 Proteins) transcription factor in the cytoplasm and regulates Hedgehog (show SHH Proteins) signaling and ciliogenesis.
Desert hedgehog promotes ischemia-induced angiogenesis by ensuring peripheral nerve survival.
Desert hedgehog-dependent transcription in T cells promotes T helper (Th)2 cell transcriptional programs and differentiation, exacerbating allergic disease.
During recovery of hematopoiesis after irradiation, and under conditions of stress-induced erythropoiesis, erythrocyte differentiation was accelerated in both spleen and bone marrow of Dhh-deficient mice compared with wild type.
The findings suggest that Sertoli cells coordinate Dhh-dependent spermatogenesis events via Ptc1 and Smo prior to the first meiotic division and in postmeiotic (haploid) cells, particularly during the first half of spermiogenesis.
Desert Hedgehog/Patched 1 (show PTCH1 Proteins) signaling specifies fetal Leydig cell fate in testis organogenesis
This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved\; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development.
desert hedgehog homolog
, desert hedgehog protein
, mutant desert hedgehog
, desert hedgehog