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Literature DB >> 22122778

A novel mutation in PRDM5 in brittle cornea syndrome.

M A Aldahmesh, J Y Mohamed, F S Alkuraya.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2011 PMID： 22122778 DOI： 10.1111/j.1399-0004.2011.01808.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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11 in total

Review 1. 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

2. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Authors: Shazia Micheal; Sorath Noorani Siddiqui; Saemah Nuzhat Zafar; Hanka Venselaar; Raheel Qamar; Muhammad Imran Khan; Anneke I den Hollander
Journal: Neurogenetics Date: 2015-10-21 Impact factor: 2.660

3. Identification of Prdm genes in human corneal endothelium.

Authors: Kostadin Rolev; Dominic G O'Donovan; Christiana Georgiou; Madhavan S Rajan; Alexandra Chittka
Journal: Exp Eye Res Date: 2017-02-20 Impact factor: 3.467

4. PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.

Authors: Mariam Lofty Khaled; Yelena Bykhovskaya; Chunfang Gu; Alice Liu; Michelle D Drewry; Zhong Chen; Barbara A Mysona; Emily Parker; Ryan P McNabb; Hongfang Yu; Xiaowen Lu; Jing Wang; Xiaohui Li; Abdulrahman Al-Muammar; Jerome I Rotter; Louise F Porter; Amy Estes; Mitchell A Watsky; Sylvia B Smith; Hongyan Xu; Khaled K Abu-Amero; Anthony Kuo; Stephen B Shears; Yaron S Rabinowitz; Yutao Liu
Journal: Sci Rep Date: 2019-12-18 Impact factor: 4.379

Review 5. Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors: Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal: Genes (Basel) Date: 2020-12-30 Impact factor: 4.096

Review 6. Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

Authors: Cortney Gensemer; Randall Burks; Steven Kautz; Daniel P Judge; Mark Lavallee; Russell A Norris
Journal: Dev Dyn Date: 2020-08-17 Impact factor: 3.780

7. 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