Literature DB >> 20938016

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

Arif O Khan, Mohammed A Aldahmesh, Jawahir N Mohamed, Fowzan S Alkuraya.   

Abstract

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Year:  2010        PMID: 20938016     DOI: 10.1001/archophthalmol.2010.238

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


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  10 in total

1.  Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Authors:  Emma M M Burkitt Wright; Helen L Spencer; Sarah B Daly; Forbes D C Manson; Leo A H Zeef; Jill Urquhart; Nicoletta Zoppi; Richard Bonshek; Ioannis Tosounidis; Meyyammai Mohan; Colm Madden; Annabel Dodds; Kate E Chandler; Siddharth Banka; Leon Au; Jill Clayton-Smith; Naz Khan; Leslie G Biesecker; Meredith Wilson; Marianne Rohrbach; Marina Colombi; Cecilia Giunta; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

2.  Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Authors:  Yi Lu; Veronique Vitart; Kathryn P Burdon; Chiea Chuen Khor; Yelena Bykhovskaya; Alireza Mirshahi; Alex W Hewitt; Demelza Koehn; Pirro G Hysi; Wishal D Ramdas; Tanja Zeller; Eranga N Vithana; Belinda K Cornes; Wan-Ting Tay; E Shyong Tai; Ching-Yu Cheng; Jianjun Liu; Jia-Nee Foo; Seang Mei Saw; Gudmar Thorleifsson; Kari Stefansson; David P Dimasi; Richard A Mills; Jenny Mountain; Wei Ang; René Hoehn; Virginie J M Verhoeven; Franz Grus; Roger Wolfs; Raphaële Castagne; Karl J Lackner; Henriët Springelkamp; Jian Yang; Fridbert Jonasson; Dexter Y L Leung; Li J Chen; Clement C Y Tham; Igor Rudan; Zoran Vatavuk; Caroline Hayward; Jane Gibson; Angela J Cree; Alex MacLeod; Sarah Ennis; Ozren Polasek; Harry Campbell; James F Wilson; Ananth C Viswanathan; Brian Fleck; Xiaohui Li; David Siscovick; Kent D Taylor; Jerome I Rotter; Seyhan Yazar; Megan Ulmer; Jun Li; Brian L Yaspan; Ayse B Ozel; Julia E Richards; Sayoko E Moroi; Jonathan L Haines; Jae H Kang; Louis R Pasquale; R Rand Allingham; Allison Ashley-Koch; Paul Mitchell; Jie Jin Wang; Alan F Wright; Craig Pennell; Timothy D Spector; Terri L Young; Caroline C W Klaver; Nicholas G Martin; Grant W Montgomery; Michael G Anderson; Tin Aung; Colin E Willoughby; Janey L Wiggs; Chi P Pang; Unnur Thorsteinsdottir; Andrew J Lotery; Christopher J Hammond; Cornelia M van Duijn; Michael A Hauser; Yaron S Rabinowitz; Norbert Pfeiffer; David A Mackey; Jamie E Craig; Stuart Macgregor; Tien Y Wong
Journal:  Nat Genet       Date:  2013-01-06       Impact factor: 38.330

3.  A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.

Authors:  Rocío Arce-González; Oscar Francisco Chacon-Camacho; Vianey Ordoñez-Labastida; Enrique O Graue-Hernandez; Alejandro Navas-Pérez; Juan Carlos Zenteno
Journal:  Int Ophthalmol       Date:  2022-09-01       Impact factor: 2.029

Review 4.  Brittle cornea syndrome: recognition, molecular diagnosis and management.

Authors:  Emma M M Burkitt Wright; Louise F Porter; Helen L Spencer; Jill Clayton-Smith; Leon Au; Francis L Munier; Sarah Smithson; Mohnish Suri; Marianne Rohrbach; Forbes D C Manson; Graeme C M Black
Journal:  Orphanet J Rare Dis       Date:  2013-05-04       Impact factor: 4.123

5.  Polymorphism of the transferrin gene in eye diseases: keratoconus and Fuchs endothelial corneal dystrophy.

Authors:  Katarzyna A Wójcik; Ewelina Synowiec; Manuel P Jiménez-García; Anna Kaminska; Piotr Polakowski; Janusz Blasiak; Jerzy Szaflik; Jacek P Szaflik
Journal:  Biomed Res Int       Date:  2013-11-24       Impact factor: 3.411

6.  Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Authors:  Judith Lechner; Louise F Porter; Aine Rice; Veronique Vitart; David J Armstrong; Daniel F Schorderet; Francis L Munier; Alan F Wright; Chris F Inglehearn; Graeme C Black; David A Simpson; Forbes Manson; Colin E Willoughby
Journal:  Hum Mol Genet       Date:  2014-06-03       Impact factor: 6.150

7.  Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Authors:  Georgia Avgitidou; Sebastian Siebelmann; Bjoern Bachmann; Juergen Kohlhase; Ludwig M Heindl; Claus Cursiefen
Journal:  Case Rep Ophthalmol Med       Date:  2015-06-29

8.  ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Authors:  Marianne Rohrbach; Helen L Spencer; Louise F Porter; Emma M M Burkitt-Wright; Céline Bürer; Andreas Janecke; Madhura Bakshi; David Sillence; Hailah Al-Hussain; Matthias Baumgartner; Beat Steinmann; Graeme C M Black; Forbes D C Manson; Cecilia Giunta
Journal:  Mol Genet Metab       Date:  2013-04-26       Impact factor: 4.797

Review 9.  Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

Authors:  Sanne D'hondt; Tim Van Damme; Fransiska Malfait
Journal:  Genet Med       Date:  2017-10-05       Impact factor: 8.822

10.  A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

Authors:  Chloe M Stanton; Amy S Findlay; Camilla Drake; Mohammad Z Mustafa; Philippe Gautier; Lisa McKie; Ian J Jackson; Veronique Vitart
Journal:  Dis Model Mech       Date:  2021-09-22       Impact factor: 5.758

  10 in total

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