Literature DB >> 11341888

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Percin EF, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AMV, Kalnins VI, Kocak-Altintas A, Sowden JC, Trabousli E, Sarfarazi M, McInnes RR.*(1) Nat Gen 2000;25:397-401.

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Abstract

Entities:  

Year:  2001        PMID： 11341888     DOI： 10.1016/s0002-9394(00)00921-1

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  8 in total

1.  Ubc9 interacts with a nuclear localization signal and mediates nuclear localization of the paired-like homeobox protein Vsx-1 independent of SUMO-1 modification.

Authors:  A L Kurtzman; N Schechter
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-01       Impact factor: 11.205

2.  Identification and functional characterization of cytoplasmic determinants of plasmid DNA nuclear import.

Authors:  Felix M Munkonge; Vaksha Amin; Stephen C Hyde; Anne-Marie Green; Ian A Pringle; Deborah R Gill; Joel W S Smith; Robert P Hooley; Stefania Xenariou; Malcolm A Ward; Nicola Leeds; Kit-Yi Leung; Mario Chan; Elizabeth Hillery; Duncan M Geddes; Uta Griesenbach; Edith H Postel; David A Dean; Michael J Dunn; Eric W F W Alton
Journal:  J Biol Chem       Date:  2009-07-28       Impact factor: 5.157

3.  Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Authors:  David Johnson; Shih-Hsin Kan; Michael Oldridge; Richard C Trembath; Philippe Roche; Robert M Esnouf; Henk Giele; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2003-03-14       Impact factor: 11.025

4.  Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development.

Authors:  Ken S Wang; Lauren E Zahn; Jack Favor; Kristen M Huang; Dwight Stambolian
Journal:  Mamm Genome       Date:  2005-05       Impact factor: 2.957

5.  A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Authors:  Iram Anjum; Hans Eiberg; Shahid Mahmood Baig; Niels Tommerup; Lars Hansen
Journal:  Mol Vis       Date:  2010-03-30       Impact factor: 2.367

6.  Chx10 is required to block photoreceptor differentiation but is dispensable for progenitor proliferation in the postnatal retina.

Authors:  Izzy Livne-Bar; Marek Pacal; Melissa C Cheung; Mark Hankin; Judy Trogadis; Danian Chen; Kimberley M Dorval; Rod Bremner
Journal:  Proc Natl Acad Sci U S A       Date:  2006-03-17       Impact factor: 11.205

7.  Heterozygous mutations of OTX2 cause severe ocular malformations.

Authors:  Nicola K Ragge; Alison G Brown; Charlotte M Poloschek; Birgit Lorenz; R Alex Henderson; Michael P Clarke; Isabelle Russell-Eggitt; Alistair Fielder; Dianne Gerrelli; Juan Pedro Martinez-Barbera; Piers Ruddle; Jane Hurst; J Richard O Collin; Alison Salt; Simon T Cooper; Pamela J Thompson; Sanjay M Sisodiya; Kathleen A Williamson; David R Fitzpatrick; Veronica van Heyningen; Isabel M Hanson
Journal:  Am J Hum Genet       Date:  2005-04-21       Impact factor: 11.025

8.  Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Authors:  Nelson Lopez Jimenez; Jason Flannick; Mani Yahyavi; Jiang Li; Tanya Bardakjian; Leath Tonkin; Adele Schneider; Elliott H Sherr; Anne M Slavotinek
Journal:  BMC Med Genet       Date:  2011-12-28       Impact factor: 2.103
  8 in total

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