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Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Autor: Zidoune, Housna^1,2,3 (AUTHOR), Martinerie, Laetitia⁴ (AUTHOR), Tan, Daisylyn S.⁵ (AUTHOR), Askari, Masomeh⁶ (AUTHOR), Rezgoune, Djalila^2,3 (AUTHOR), Ladjouze, Asmahane⁷ (AUTHOR), Boukri, Asma⁸ (AUTHOR), Benelmadani, Yasmina³ (AUTHOR), Sifi, Karima³ (AUTHOR), Abadi, Noureddine³ (AUTHOR), Satta, Dalila^2,3 (AUTHOR), Rastari, Mandana⁶ (AUTHOR), Seresht-Ahmadi, Mehrshad⁶ (AUTHOR), Bignon-Topalovic, Joelle¹ (AUTHOR), Mazen, Inas⁹ (AUTHOR), Leger, Juliane⁴ (AUTHOR), Simon, Dominique⁴ (AUTHOR), Brauner, Raja¹⁰ (AUTHOR), Totonchi, Mehdi⁶ (AUTHOR), Jauch, Ralf⁵ (AUTHOR)

Publikováno v: Sexual Development. 2021, Vol. 15 Issue 4, p244-252. 9p.

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Autor: Zidoune, Housna, Ladjouze, Asmahane, Chellat-Rezgoune, Djalila, Boukri, Asma, Dib, Scheher Aman, Nouri, Nassim, Tebibel, Meryem, Sifi, Karima, Abadi, Noureddine, Satta, Dalila, Benelmadani, Yasmina, Bignon-Topalovic, Joelle, El-Zaiat-Munsch, Maëva, Bashamboo, Anu, Mcelreavey, Ken

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, 2022, 13, pp.900574. ⟨10.3389/fgene.2022.900574⟩

In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c147c0962685a11baadd778541cfb128
https://doi.org/10.3389/fgene.2022.900574

Evidence for NR2F2/COUP-TFII involvement in human testis development.

Autor: Wankanit S; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France.; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand., Zidoune H; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France.; Department of Animal Biology, Laboratory of Molecular and Cellular Biology, University Frères Mentouri Constantine 1, 25017, Constantine, Algeria., Bignon-Topalovic J; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France., Schlick L; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France., Houzelstein D; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France., Fusée L; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France., Boukri A; Department of Endocrinology and Diabetology, CHU Ibn Badis Constantine, Constantine, Algeria.; Metabolic Disease Research Laboratory, Salah Boubnider Constantine 3 University, El Khroub, Algeria., Nouri N; Department of Endocrinology and Diabetology, CHU Ibn Badis Constantine, Constantine, Algeria.; Metabolic Disease Research Laboratory, Salah Boubnider Constantine 3 University, El Khroub, Algeria., McElreavey K; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France., Bashamboo A; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France., Elzaiat M; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France. maeva.el-zaiat-munsch@pasteur.fr.

Publikováno v: Scientific reports [Sci Rep] 2024 Aug 01; Vol. 14 (1), pp. 17869. Date of Electronic Publication: 2024 Aug 01.