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Year Number of Results
2016 10
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46 results

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Page 1
Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.
Boso F, Zanette G, Baldinotti F, Bertelloni S, Taioli F, Monaco S, Fabrizi GM, Cavallaro T. Boso F, et al. J Peripher Nerv Syst. 2020 Dec;25(4):423-428. doi: 10.1111/jns.12417. Epub 2020 Nov 4. J Peripher Nerv Syst. 2020. PMID: 33107133
So far, it has been observed in females with a 46,XY karyotype and mutations of the Desert Hedgehog (DHH) gene, thus linking MN to gonadal dysgenesis (GD) and disorders of sex development (DSD). ...DHH should therefore be considered as a possible cause …
So far, it has been observed in females with a 46,XY karyotype and mutations of the Desert Hedgehog (DHH) gene, thus li …
Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development.
Wei J, Wu J, Ru W, Chen G, Gao L, Tang D. Wei J, et al. BMC Med Genomics. 2022 Aug 15;15(1):178. doi: 10.1186/s12920-022-01334-5. BMC Med Genomics. 2022. PMID: 35971145 Free PMC article.
Exome sequencing revealed compound heterozygous mutations in exon 3 of DHH in the siblings with 46,XY DSD. The frameshift mutation (NM_021044.3: c.602delC) was derived from the father and was predicted to be deleterious. ...CONCLUSIONS: Novel compound heterozygous mutation …
Exome sequencing revealed compound heterozygous mutations in exon 3 of DHH in the siblings with 46,XY DSD. The frameshift mutation (N …
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. Liu B, et al. Int J Immunopathol Pharmacol. 2023 Jan-Dec;37:3946320231208833. doi: 10.1177/03946320231208833. Int J Immunopathol Pharmacol. 2023. PMID: 37864517 Free PMC article.
Real time qPCR and western blotting assessed the mRNA and protein levels of PKNOX1, Snail, vimentin, N-cadherin, E-cadherin, desert hedgehog (DHH), cyclin D2, glioma-associated oncogene homolog 1, and smoothened. ...Furthermore, PKNOX1 regulated the activatio …
Real time qPCR and western blotting assessed the mRNA and protein levels of PKNOX1, Snail, vimentin, N-cadherin, E-cadherin, desert …
Cell interactions and genetic regulation that contribute to testicular Leydig cell development and differentiation.
Martin LJ. Martin LJ. Mol Reprod Dev. 2016 Jun;83(6):470-87. doi: 10.1002/mrd.22648. Epub 2016 Apr 26. Mol Reprod Dev. 2016. PMID: 27079813 Review.
Recent work on the regulation of testis development, especially of Leydig cells, has focused on the Desert hedgehog and platelet-derived growth factor signaling pathways. This review outlines recent findings regarding cell interactions and gene regulation involved i …
Recent work on the regulation of testis development, especially of Leydig cells, has focused on the Desert hedgehog and platel …
FOXL2 drives the differentiation of supporting gonadal cells in early ovarian development.
Danti L, Lundin K, Nedeczey-Ruzsák P, Tuuri T, Tapanainen JS. Danti L, et al. Reprod Biol Endocrinol. 2025 Mar 18;23(1):44. doi: 10.1186/s12958-025-01377-0. Reprod Biol Endocrinol. 2025. PMID: 40102860 Free PMC article.
RESULTS: Our results demonstrate that FOXL2 downregulates coelomic epithelial markers GATA4 and LHX9, female gonadal markers RSPO1 and WNT4, and male gonadal markers SOX9, NR0B1 and DHH. The differentially expressed genes were mostly associated with Kyoto encyclopaedia of …
RESULTS: Our results demonstrate that FOXL2 downregulates coelomic epithelial markers GATA4 and LHX9, female gonadal markers RSPO1 and WNT4, …
Apontic directly activates hedgehog and cyclin E for proper organ growth and patterning.
Wang XF, Shen Y, Cheng Q, Fu CL, Zhou ZZ, Hirose S, Liu QX. Wang XF, et al. Sci Rep. 2017 Sep 29;7(1):12470. doi: 10.1038/s41598-017-12766-w. Sci Rep. 2017. PMID: 28963499 Free PMC article.
Furthermore, Fibrinogen silencer-binding protein (FSBP), a mammalian homolog of Apt, also positively regulates Sonic hh (Shh), Desert hh (Dhh), Cyclin E1 (CCNE1) and Cyclin E2 (CCNE2) in cultured human cells, suggesting evolutionary conservation of the mechanism. ...
Furthermore, Fibrinogen silencer-binding protein (FSBP), a mammalian homolog of Apt, also positively regulates Sonic hh (Shh), Desert hh ( …
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. Ayers K, et al. J Med Genet. 2019 Jul;56(7):434-443. doi: 10.1136/jmedgenet-2018-105893. Epub 2019 Apr 24. J Med Genet. 2019. PMID: 31018998 Free PMC article.
BACKGROUND: Desert hedgehog (DHH) gene variants are known to cause 46,XY differences/disorders of sex development (DSD). ...CONCLUSION: Our findings suggest heterozygous DHH gene variants are unlikely to cause DSD, reaffirming that DHH is an aut …
BACKGROUND: Desert hedgehog (DHH) gene variants are known to cause 46,XY differences/disorders of sex development (DSD) …
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. Mehta P, et al. J Assist Reprod Genet. 2021 Jul;38(7):1871-1878. doi: 10.1007/s10815-021-02140-1. Epub 2021 Mar 12. J Assist Reprod Genet. 2021. PMID: 33712994 Free PMC article.
PURPOSE: To identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differentiation (DSD) and male infertility. ...Sequencing of the complete coding region of the DHH gene was undertaken to find its contribut …
PURPOSE: To identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differe …
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. Kothandapani A, et al. Mol Cell Endocrinol. 2021 Jul 1;531:111265. doi: 10.1016/j.mce.2021.111265. Epub 2021 Apr 14. Mol Cell Endocrinol. 2021. PMID: 33864885
Sertoli cells cooperate in Stard1 stimulation in FLC by delivering DHH to the primary cilium. There PTCH, SMO and cholesterol cooperate to release GLI3 to activate the Stard1 locus, probably by directing histone changes. ...
Sertoli cells cooperate in Stard1 stimulation in FLC by delivering DHH to the primary cilium. There PTCH, SMO and cholesterol coopera …
Purification and Characterization of Schwann Cells from Adult Human Skin and Nerve.
Stratton JA, Kumar R, Sinha S, Shah P, Stykel M, Shapira Y, Midha R, Biernaskie J. Stratton JA, et al. eNeuro. 2017 May 16;4(3):ENEURO.0307-16.2017. doi: 10.1523/ENEURO.0307-16.2017. eCollection 2017 May-Jun. eNeuro. 2017. PMID: 28512649 Free PMC article.
We found that hSk-SCs appeared transcriptionally indistinguishable from hN-SCs with both populations exhibiting expression of SC genes including: SOX10, SOX9, AP2A1, CDH19, EGR1, ETV5, PAX3, SOX2, CX32, DHH, NECL4, NFATC4, POU3F1, S100B, and YY1. Phenotypic analysis of hSk …
We found that hSk-SCs appeared transcriptionally indistinguishable from hN-SCs with both populations exhibiting expression of SC genes inclu …
46 results