| PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway. | PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway.
Liu B, Zhao S, Liu L., Free PMC Article | 11/8/2023 |
| Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility. | Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.
Mehta P, Singh P, Gupta NJ, Sankhwar SN, Chakravarty B, Thangaraj K, Rajender S., Free PMC Article | 01/1/2022 |
| Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium. | Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium.
Kothandapani A, Larsen MC, Lee J, Jorgensen JS, Jefcoate CR. | 12/11/2021 |
| DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation. | DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Elzaiat M, Flatters D, Sierra-Díaz DC, Legois B, Laissue P, Veitia RA. | 10/10/2020 |
| Our findings suggest heterozygous DHH gene variants are unlikely to cause DSD, reaffirming that DHH is an autosomal recessive cause of 46,XY gonadal dysgenesis. | Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Ayers K, van den Bergen J, Robevska G, Listyasari N, Raza J, Atta I, Riedl S, Rothacker K, Choong C, Faradz SMH, Sinclair A., Free PMC Article | 06/6/2020 |
| Defects in the DHH gene have been reported as a very rare cause of Disorders of sex development, and this report increases the number of 46,XY gonadal dysgenesis cases. | 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Neocleous V, Fanis P, Cinarli F, Kokotsis V, Oulas A, Toumba M, Spyrou GM, Phylactou LA, Skordis N. | 03/28/2020 |
| Study describes two patients diagnosed with gonadal dysgenesis (GD), both harboring novel DHH compound heterozygous mutations p.[Tyr176*];[Asn337Lysfs*24] and p.[Tyr176*];[Glu212Lys]. While p.(Glu212Lys) retained 50% of its activity and led to a partially abolished DHH auto-processing, p.(Asn337Lysfs*24) resulted in a complete absence of auto-proteolysis. | In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
Tajouri A, Kharrat M, Hizem S, Zaghdoudi H, M'rad R, Simic-Schleicher G, Kaiser FJ, Hiort O, Werner R. | 10/12/2019 |
| Identify Dhh (desert hedgehog) as a downstream effector of Klf2, whose expression in endothelial cells is upregulated by shear stress and decreased by inflammatory cytokines. | Restoring Endothelial Function by Targeting Desert Hedgehog Downstream of Klf2 Improves Critical Limb Ischemia in Adults.
Caradu C, Couffinhal T, Chapouly C, Guimbal S, Hollier PL, Ducasse E, Bura-Rivière A, Dubois M, Gadeau AP, Renault MA. | 10/5/2019 |
| 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 | A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.
Paris F, Flatters D, Caburet S, Legois B, Servant N, Lefebvre H, Sultan C, Veitia RA. | 06/30/2018 |
| Single nucleotide polymorphism in the DHH gene is associated with bipolar disorder. | A genetic variant in 12q13, a possible risk factor for bipolar disorder, is associated with depressive state, accounting for stressful life events.
Shimasaki A, Kondo K, Saito T, Esaki K, Otsuka Y, Mano K, Ikeda M, Iwata N., Free PMC Article | 01/16/2016 |
| Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. | 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O., Free PMC Article | 10/17/2015 |
| 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. | DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia.
Masetti R, Togni M, Astolfi A, Pigazzi M, Manara E, Indio V, Rizzari C, Rutella S, Basso G, Pession A, Locatelli F., Free PMC Article | 07/26/2014 |
| Mutations in DHH are associated with 46,XY pure gonadal dysgenesis and mixed gonadal dysgenesis. | In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
Castro JJ, Méndez JP, Coral-Vázquez RM, Soriano-Ursúa MA, Damian-Matsumura P, Benítez-Granados J, Rosas-Vargas H, Canto P., Free PMC Article | 10/26/2013 |
| This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development. | Desert hedgehog links transcription factor Sox10 to perineurial development.
Küspert M, Weider M, Müller J, Hermans-Borgmeyer I, Meijer D, Wegner M., Free PMC Article | 06/16/2012 |
| 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. | Developmental pathways in breast cancer and breast tumor-initiating cells: therapeutic implications.
Izrailit J, Reedijk M. | 04/21/2012 |
| 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. | 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.
Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L. | 01/14/2012 |
| 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. | SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog.
Carbonnelle-Puscian A, Vidal V, Laurendeau I, Valeyrie-Allanore L, Vidaud D, Bièche I, Leroy K, Lantieri L, Wolkenstein P, Schedl A, Ortonne N. | 04/2/2011 |
| Hh signaling is important in the pathogenesis of B-CLL and, hence, may be a potential therapeutic target | Hedgehog-induced survival of B-cell chronic lymphocytic leukemia cells in a stromal cell microenvironment: a potential new therapeutic target.
Hegde GV, Peterson KJ, Emanuel K, Mittal AK, Joshi AD, Dickinson JD, Kollessery GJ, Bociek RG, Bierman P, Vose JM, Weisenburger DD, Joshi SS. | 01/21/2010 |
| its signal transduction regulates tumor development. (review) | [Hedgehog signaling pathway and its impact on development of cancer therapy].
Nakamura M, Katano M. | 01/21/2010 |
| Importance of DHH in mammalian male sexual differentiation, providing extended evidence that DHH constitutes a key gene in gonadal differentiation | A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.
Canto P, Vilchis F, Söderlund D, Reyes E, Méndez JP. | 01/21/2010 |
| These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves | Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.
Umehara F, Tate G, Itoh K, Osame M. | 01/21/2010 |