Literature DB >> 24665001

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

Abhimanyu Garg1, Chao Xing.   

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Year:  2014        PMID： 24665001     DOI： 10.1002/ajmg.a.36449

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


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  7 in total

Review 1.  Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

Authors:  Eberhard Passarge; Peter N Robinson; Luitgard M Graul-Neumann
Journal:  Eur J Hum Genet       Date:  2016-02-10       Impact factor: 4.246

Review 2.  Lipodystrophy syndromes.

Authors:  Pedro Herranz; Raul de Lucas; Luis Pérez-España; Matias Mayor
Journal:  Dermatol Clin       Date:  2008-10       Impact factor: 3.478

Review 3.  FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

Authors:  Lynn Y Sakai; Douglas R Keene; Marjolijn Renard; Julie De Backer
Journal:  Gene       Date:  2016-07-18       Impact factor: 3.688

4.  Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Authors:  Jennifer A Wambach; Daniel J Wegner; Nivedita Patni; Martin Kircher; Marcia C Willing; Dustin Baldridge; Chao Xing; Anil K Agarwal; Samantha A Schrier Vergano; Chirag Patel; Dorothy K Grange; Amy Kenney; Tasnim Najaf; Deborah A Nickerson; Michael J Bamshad; F Sessions Cole; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2018-11-07       Impact factor: 11.025

Review 5.  Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Authors:  Nivedita Patni; Abhimanyu Garg
Journal:  Nat Rev Endocrinol       Date:  2015-08-04       Impact factor: 43.330

6.  Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.

Authors:  Mao Chen; Bing Yao; Qiangbing Yang; Jichao Deng; Yuning Song; Tingting Sui; Lina Zhou; HaoBing Yao; Yuanyuan Xu; Hongsheng Ouyang; Daxin Pang; Zhanjun Li; Liangxue Lai
Journal:  Dis Model Mech       Date:  2018-04-09       Impact factor: 5.758

7.  Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Authors:  Mao Lin; Zhenlei Liu; Gang Liu; Sen Zhao; Chao Li; Weisheng Chen; Zeynep Coban Akdemir; Jiachen Lin; Xiaofei Song; Shengru Wang; Qiming Xu; Yanxue Zhao; Lianlei Wang; Yuanqiang Zhang; Zihui Yan; Sen Liu; Jiaqi Liu; Yixin Chen; Yuzhi Zuo; Xu Yang; Tianshu Sun; Xin-Zhuang Yang; Yuchen Niu; Xiaoxin Li; Wesley You; Bintao Qiu; Chen Ding; Pengfei Liu; Shuyang Zhang; Claudia M B Carvalho; Jennifer E Posey; Guixing Qiu; James R Lupski; Zhihong Wu; Jianguo Zhang; Nan Wu
Journal:  Mol Genet Genomic Med       Date:  2019-11-27       Impact factor: 2.183
  7 in total

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