Literature DB >> 28031288

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Anu Bashamboo1, Patricia A Donohoue2, Eric Vilain3, Sandra Rojo1, Pierre Calvel1, Sumudu N Seneviratne4, Federica Buonocore5, Hayk Barseghyan6, Nathan Bingham7, Jill A Rosenfeld8, Surya Narayan Mulukutla9, Mahim Jain8, Lindsay Burrage8, Shweta Dhar8, Ashok Balasubramanyam9, Brendan Lee8, Marie-Charlotte Dumargne1, Caroline Eozenou1, Jenifer P Suntharalingham5, Ksh de Silva4, Lin Lin5, Joelle Bignon-Topalovic1, Francis Poulat10, Carlos F Lagos11, Ken McElreavey1, John C Achermann5.   

Abstract

Entities:  

Year:  2016        PMID： 28031288      PMCID： PMC5886042          DOI： 10.1093/hmg/ddw390

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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The author Marie-Charlotte Dumargne should have been included in the author list of the above article. This has been corrected above and in the original article (doi:10.1093/hmg/ddw186).
  7 in total

1.  Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.

Authors:  Sinian Pan; Shili Guo; Liting Liu; Xiaoyuan Yang; Hanmei Liang
Journal:  J Assist Reprod Genet       Date:  2020-01-14       Impact factor: 3.412

Review 2.  Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.

Authors:  Laura Kasak; Maris Laan
Journal:  Hum Genet       Date:  2020-01-18       Impact factor: 4.132

3.  Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Authors:  Núria Camats; Mónica Fernández-Cancio; Laura Audí; André Schaller; Christa E Flück
Journal:  Eur J Hum Genet       Date:  2018-06-11       Impact factor: 4.246

4.  Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.

Authors:  Caroline Eozenou; Nitzan Gonen; Maria Sol Touzon; Anne Jorgensen; Svetlana A Yatsenko; Leila Fusee; Alaa K Kamel; Balazs Gellen; Gabriela Guercio; Priti Singh; Selma Witchel; Andrea J Berman; Rana Mainpal; Mehdi Totonchi; Anahita Mohseni Meybodi; Masomeh Askari; Tiphanie Merel-Chali; Joelle Bignon-Topalovic; Roberta Migale; Mariana Costanzo; Roxana Marino; Pablo Ramirez; Natalia Perez Garrido; Esperanza Berensztein; Mona K Mekkawy; John C Schimenti; Rita Bertalan; Inas Mazen; Ken McElreavey; Alicia Belgorosky; Robin Lovell-Badge; Aleksandar Rajkovic; Anu Bashamboo
Journal:  Proc Natl Acad Sci U S A       Date:  2020-06-03       Impact factor: 11.205

Review 5.  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors:  Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal:  Genome Med       Date:  2022-02-28       Impact factor: 15.266

6.  A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.

Authors:  Yi-Lin Yan; Tom Titus; Thomas Desvignes; Ruth BreMiller; Peter Batzel; Jason Sydes; Dylan Farnsworth; Danielle Dillon; Jeremy Wegner; Jennifer B Phillips; Judy Peirce; John Dowd; Charles Loren Buck; Adam Miller; Monte Westerfield; John H Postlethwait
Journal:  Genetics       Date:  2021-02-09       Impact factor: 4.562

7.  Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.

Authors:  Hayk Barseghyan; Aleisha Symon; Mariam Zadikyan; Miguel Almalvez; Eva E Segura; Ascia Eskin; Matthew S Bramble; Valerie A Arboleda; Ruth Baxter; Stanley F Nelson; Emmanuèle C Délot; Vincent Harley; Eric Vilain
Journal:  Biol Sex Differ       Date:  2018-01-30       Impact factor: 5.027
  7 in total

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