Literature DB >> 27267789

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.

Julius T Oatts1, Sarah Hull2, Michel Michaelides2, Gavin Arno2, Andrew R Webster2, Anthony T Moore1,2.   

Abstract

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Year:  2016        PMID： 27267789     DOI： 10.1080/13816810.2016.1188122

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


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  6 in total

Review 1.  Hippo-yap signaling in ocular development and disease.

Authors:  Matthew Lee; Navneet Goraya; Seonhee Kim; Seo-Hee Cho
Journal:  Dev Dyn       Date:  2018-04-23       Impact factor: 3.780

Review 2.  An update on the genetics of ocular coloboma.

Authors:  Aisha S ALSomiry; Cheryl Y Gregory-Evans; Kevin Gregory-Evans
Journal:  Hum Genet       Date:  2019-05-09       Impact factor: 4.132

Review 3.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

4.  New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

Authors:  R Holt; F Ceroni; D A Bax; S Broadgate; D Gold Diaz; C Santos; D Gerrelli; N K Ragge
Journal:  Sci Rep       Date:  2017-08-11       Impact factor: 4.379

5.  Yap haploinsufficiency leads to Müller cell dysfunction and late-onset cone dystrophy.

Authors:  Christel Masson; Diana García-García; Juliette Bitard; Élodie-Kim Grellier; Jérôme E Roger; Muriel Perron
Journal:  Cell Death Dis       Date:  2020-08-14       Impact factor: 8.469

6.  Heterozygous Loss of Yap1 in Mice Causes Progressive Cataracts.

Authors:  Qingxian Lu; Yingnan Zhang; Ramesh Babu Kasetti; Subhash Gaddipati; Naresh Kumar Cvm; Douglas Borchman; Qiutang Li
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-10-01       Impact factor: 4.799
  6 in total

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