Literature DB >> 29283788

Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.

Mariana DuPont1, Evan M Jones2,3, Mingchu Xu2,3, Rui Chen2,3.   

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Year:  2017        PMID： 29283788      PMCID： PMC6084783          DOI： 10.1080/13816810.2017.1418388

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  11 in total

1.  Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Authors:  S Bernal; C Ayuso; G Antiñolo; A Gimenez; S Borrego; M J Trujillo; I Marcos; M Calaf; E Del Rio; M Baiget
Journal:  J Med Genet       Date:  2003-01       Impact factor: 6.318

2.  Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Authors:  Mingchu Xu; Takeyuki Yamada; Zixi Sun; Aiden Eblimit; Irma Lopez; Feng Wang; Hiroshi Manya; Shan Xu; Li Zhao; Yumei Li; Adva Kimchi; Dror Sharon; Ruifang Sui; Tamao Endo; Robert K Koenekoop; Rui Chen
Journal:  Hum Mol Genet       Date:  2016-01-28       Impact factor: 6.150

3.  Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Authors:  María González-Del Pozo; Nereida Bravo-Gil; Cristina Méndez-Vidal; Ignacio Montero-de-Espinosa; José M Millán; Joaquín Dopazo; Salud Borrego; Guillermo Antiñolo
Journal:  Am J Med Genet A       Date:  2015-03-30       Impact factor: 2.802

4.  ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Authors:  Mingchu Xu; Violet Gelowani; Aiden Eblimit; Feng Wang; Marielle P Young; Briana L Sawyer; Li Zhao; Glen Jenkins; Donnell J Creel; Keqing Wang; Zhongqi Ge; Hui Wang; Yumei Li; M Elizabeth Hartnett; Rui Chen
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-06       Impact factor: 4.799

5.  Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Authors:  Babak Jian Seyedahmadi; Carlo Rivolta; Julia A Keene; Eliot L Berson; Thaddeus P Dryja
Journal:  Exp Eye Res       Date:  2004-08       Impact factor: 3.467

6.  Mutations in human IFT140 cause non-syndromic retinal degeneration.

Authors:  Mingchu Xu; Lizhu Yang; Feng Wang; Huajin Li; Xia Wang; Weichen Wang; Zhongqi Ge; Keqing Wang; Li Zhao; Hui Li; Yumei Li; Ruifang Sui; Rui Chen
Journal:  Hum Genet       Date:  2015-07-28       Impact factor: 4.132

7.  ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Authors:  Mingchu Xu; Aiden Eblimit; Jing Wang; Jianli Li; Feng Wang; Li Zhao; Xia Wang; Ningna Xiao; Yumei Li; Lee-Jun C Wong; Richard A Lewis; Rui Chen
Journal:  Hum Mutat       Date:  2016-01-06       Impact factor: 4.878

Review 8.  Retinitis pigmentosa.

Authors:  Christian Hamel
Journal:  Orphanet J Rare Dis       Date:  2006-10-11       Impact factor: 4.123

9.  Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

Authors:  Abulikemu Tajiguli; Mingchu Xu; Qing Fu; Rouzimaimaiti Yiming; Keqing Wang; Yumei Li; Aiden Eblimit; Ruifang Sui; Rui Chen; Haji Akber Aisa
Journal:  Sci Rep       Date:  2016-02-09       Impact factor: 4.379

10.  Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Authors:  Mingchu Xu; Yajing Angela Xie; Hana Abouzeid; Christopher T Gordon; Alessia Fiorentino; Zixi Sun; Anna Lehman; Ihab S Osman; Rachayata Dharmat; Rosa Riveiro-Alvarez; Linda Bapst-Wicht; Darwin Babino; Gavin Arno; Virginia Busetto; Li Zhao; Hui Li; Miguel A Lopez-Martinez; Liliana F Azevedo; Laurence Hubert; Nikolas Pontikos; Aiden Eblimit; Isabel Lorda-Sanchez; Valeria Kheir; Vincent Plagnol; Myriam Oufadem; Zachry T Soens; Lizhu Yang; Christine Bole-Feysot; Rolph Pfundt; Nathalie Allaman-Pillet; Patrick Nitschké; Michael E Cheetham; Stanislas Lyonnet; Smriti A Agrawal; Huajin Li; Gaëtan Pinton; Michel Michaelides; Claude Besmond; Yumei Li; Zhisheng Yuan; Johannes von Lintig; Andrew R Webster; Hervé Le Hir; Peter Stoilov; Jeanne Amiel; Alison J Hardcastle; Carmen Ayuso; Ruifang Sui; Rui Chen; Rando Allikmets; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2017-03-09       Impact factor: 11.043
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  4 in total

1.  Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

Authors:  Janine Reurink; Erik de Vrieze; Catherina H Z Li; Emma van Berkel; Sanne Broekman; Marco Aben; Theo Peters; Jaap Oostrik; Kornelia Neveling; Hanka Venselaar; Mariana Guimarães Ramos; Christian Gilissen; Galuh D N Astuti; Jordi Corominas Galbany; Janneke J C van Lith-Verhoeven; Charlotte W Ockeloen; Lonneke Haer-Wigman; Carel B Hoyng; Frans P M Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wijk
Journal:  NPJ Genom Med       Date:  2022-06-07       Impact factor: 6.083

2.  Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.

Authors:  María González-Del Pozo; Elena Fernández-Suárez; Marta Martín-Sánchez; Nereida Bravo-Gil; Cristina Méndez-Vidal; Enrique Rodríguez-de la Rúa; Salud Borrego; Guillermo Antiñolo
Journal:  J Transl Med       Date:  2020-02-12       Impact factor: 5.531

3.  Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

Authors:  R Villafuerte-De la Cruz; O F Chacon-Camacho; A C Rodriguez-Martinez; N Xilotl-De Jesus; R Arce-Gonzalez; C Rodriguez-De la Torre; J E Valdez-Garcia; A Rojas-Martinez; J C Zenteno
Journal:  Front Genet       Date:  2022-08-16       Impact factor: 4.772

4.  Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

Authors:  Akira Inaba; Akiko Maeda; Akiko Yoshida; Kanako Kawai; Yasuhiko Hirami; Yasuo Kurimoto; Shinji Kosugi; Masayo Takahashi
Journal:  Int J Mol Sci       Date:  2020-10-22       Impact factor: 5.923
  4 in total

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