Literature DB >> 23300014

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Hussam Al-Kateb1, Joshua S Shimony, Marisa Vineyard, Linda Manwaring, Shashikant Kulkarni, Marwan Shinawi.   

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Year:  2013        PMID： 23300014     DOI： 10.1002/ajmg.a.35650

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  15 in total

1.  Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Authors:  Naomi Hino-Fukuyo; Atsuo Kikuchi; Natsuko Arai-Ichinoi; Tetsuya Niihori; Ryo Sato; Tasuku Suzuki; Hiroki Kudo; Yuko Sato; Tojo Nakayama; Yosuke Kakisaka; Yuki Kubota; Tomoko Kobayashi; Ryo Funayama; Keiko Nakayama; Mitsugu Uematsu; Yoko Aoki; Kazuhiro Haginoya; Shigeo Kure
Journal:  Hum Genet       Date:  2015-04-16       Impact factor: 4.132

2.  Dynamic expression of NR2F1 and SOX2 in developing and adult human cortex: comparison with cortical malformations.

Authors:  Benedetta Foglio; Laura Rossini; Rita Garbelli; Maria Cristina Regondi; Sara Mercurio; Michele Bertacchi; Laura Avagliano; Gaetano Bulfamante; Roland Coras; Antonino Maiorana; Silvia Nicolis; Michèle Studer; Carolina Frassoni
Journal:  Brain Struct Funct       Date:  2021-03-04       Impact factor: 3.270

3.  NR2F1 mutations cause optic atrophy with intellectual disability.

Authors:  Daniëlle G M Bosch; F Nienke Boonstra; Claudia Gonzaga-Jauregui; Mafei Xu; Joep de Ligt; Shalini Jhangiani; Wojciech Wiszniewski; Donna M Muzny; Helger G Yntema; Rolph Pfundt; Lisenka E L M Vissers; Liesbeth Spruijt; Ellen A W Blokland; Chun-An Chen; Richard A Lewis; Sophia Y Tsai; Richard A Gibbs; Ming-Jer Tsai; James R Lupski; Huda Y Zoghbi; Frans P M Cremers; Bert B A de Vries; Christian P Schaaf
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025

Review 4.  COUP-TFs and eye development.

Authors:  Ke Tang; Sophia Y Tsai; Ming-Jer Tsai
Journal:  Biochim Biophys Acta       Date:  2014-05-27

Review 5.  Genetic disorders of nuclear receptors.

Authors:  John C Achermann; John Schwabe; Louise Fairall; Krishna Chatterjee
Journal:  J Clin Invest       Date:  2017-04-03       Impact factor: 14.808

6.  Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Authors:  Elena Martín-Hernández; María Elena Rodríguez-García; Chun-An Chen; Francisco Javier Cotrina-Vinagre; Patricia Carnicero-Rodríguez; Marcello Bellusci; Christian P Schaaf; Francisco Martínez-Azorín
Journal:  J Hum Genet       Date:  2018-02-06       Impact factor: 3.172

7.  The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Authors:  Chun-An Chen; Daniëlle G M Bosch; Megan T Cho; Jill A Rosenfeld; Marwan Shinawi; Richard Alan Lewis; John Mann; Parul Jayakar; Katelyn Payne; Laurence Walsh; Timothy Moss; Allison Schreiber; Cheri Schoonveld; Kristin G Monaghan; Frances Elmslie; Ganka Douglas; F Nienke Boonstra; Francisca Millan; Frans P M Cremers; Dianalee McKnight; Gabriele Richard; Jane Juusola; Fran Kendall; Keri Ramsey; Kwame Anyane-Yeboa; Elfrida Malkin; Wendy K Chung; Dmitriy Niyazov; Juan M Pascual; Magdalena Walkiewicz; Vivekanand Veluchamy; Chumei Li; Fuki M Hisama; Bert B A de Vries; Christian Schaaf
Journal:  Genet Med       Date:  2016-03-17       Impact factor: 8.822

Review 8.  Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Authors:  Charu Kaiwar; Michael T Zimmermann; Matthew J Ferber; Zhiyv Niu; Raul A Urrutia; Eric W Klee; Dusica Babovic-Vuksanovic
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

9.  Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Authors:  Catia Mio; Federico Fogolari; Laura Pezzoli; Angela V D'Elia; Maria Iascone; Giuseppe Damante
Journal:  Mol Genet Genomic Med       Date:  2020-05-15       Impact factor: 2.183

Review 10.  Orphan nuclear receptor NR2F6 acts as an essential gatekeeper of Th17 CD4+ T cell effector functions.

Authors:  Natascha Hermann-Kleiter; Gottfried Baier
Journal:  Cell Commun Signal       Date:  2014-06-12       Impact factor: 5.712
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