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Literature DB >> 30070761

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

David Chitayat^1,2, Patrick Shannon³, Tami Uster¹, Marjan M Nezarati⁴, Rhonda E Schnur⁵, Elizabeth J Bhoj^6,7.

Abstract

Entities: Gene

Mesh：

Substances：
Transcription Factors

Year: 2018 PMID： 30070761 DOI： 10.1002/ajmg.a.40360

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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10 in total

Review 1. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Authors: Linda Z Rossetti; Kevin Glinton; Bo Yuan; Pengfei Liu; Nishitha Pillai; Elizabeth Mizerik; Pilar Magoulas; Jill A Rosenfeld; Lefkothea Karaviti; Vernon R Sutton; Seema R Lalani; Daryl A Scott
Journal: Am J Med Genet A Date: 2019-05-08 Impact factor: 2.802

Review 2. The influence of genetics in congenital diaphragmatic hernia.

Authors: Lan Yu; Rebecca R Hernan; Julia Wynn; Wendy K Chung
Journal: Semin Perinatol Date: 2019-08-01 Impact factor: 3.300

3. Truncation mutations in MYRF underlie primary angle closure glaucoma.

Authors: Jiamin Ouyang; Wenmin Sun; Huangxuan Shen; Xing Liu; Yingchen Wu; Hongmei Jiang; Xueqing Li; Yingwei Wang; Yi Jiang; Shiqiang Li; Xueshan Xiao; J Fielding Hejtmancik; Zhiqun Tan; Qingjiong Zhang
Journal: Hum Genet Date: 2022-09-21 Impact factor: 5.881

4. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Authors: Hongjian Qi; Lan Yu; Xueya Zhou; Julia Wynn; Haoquan Zhao; Yicheng Guo; Na Zhu; Alexander Kitaygorodsky; Rebecca Hernan; Gudrun Aspelund; Foong-Yen Lim; Timothy Crombleholme; Robert Cusick; Kenneth Azarow; Melissa E Danko; Dai Chung; Brad W Warner; George B Mychaliska; Douglas Potoka; Amy J Wagner; Mahmoud ElFiky; Jay M Wilson; Debbie Nickerson; Michael Bamshad; Frances A High; Mauro Longoni; Patricia K Donahoe; Wendy K Chung; Yufeng Shen
Journal: PLoS Genet Date: 2018-12-10 Impact factor: 5.917

5. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Authors: Sarah J Garnai; Michelle L Brinkmeier; Ben Emery; Tomas S Aleman; Louise C Pyle; Biliana Veleva-Rotse; Robert A Sisk; Frank W Rozsa; Ayse Bilge Ozel; Jun Z Li; Sayoko E Moroi; Steven M Archer; Cheng-Mao Lin; Sarah Sheskey; Laurel Wiinikka-Buesser; James Eadie; Jill E Urquhart; Graeme C M Black; Mohammad I Othman; Michael Boehnke; Scot A Sullivan; Gregory L Skuta; Hemant S Pawar; Alexander E Katz; Laryssa A Huryn; Robert B Hufnagel; Sally A Camper; Julia E Richards; Lev Prasov
Journal: PLoS Genet Date: 2019-05-02 Impact factor: 5.917

10. Crystal structure of the MyRF ICA domain with its upstream β-helical stalk reveals the molecular mechanisms underlying its trimerization and self-cleavage.

Authors: Pei Wu; Xiangkai Zhen; Bowen Li; Qian Yu; Xiaochen Huang; Ning Shi
Journal: Int J Biol Sci Date: 2021-07-13 Impact factor: 6.580

10 in total

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Review 1. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Review 2. The influence of genetics in congenital diaphragmatic hernia.

3. Truncation mutations in MYRF underlie primary angle closure glaucoma.

4. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

5. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

6. Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.

7. Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.

8. MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.

9. Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.

10. Crystal structure of the MyRF ICA domain with its upstream β-helical stalk reveals the molecular mechanisms underlying its trimerization and self-cleavage.