Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2-Reference-Cited by-同舟云学术

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

Published:2009-07 Issue:1 Volume:85 Page:120-129
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Guernsey Duane L.,Jiang Haiyan,Evans Susan C.,Ferguson Meghan,Matsuoka Makoto,Nightingale Mathew,Rideout Andrea L.,Provost Sylvie,Bedard Karen,Orr Andrew,Dubé Marie-Pierre,Ludman Mark,Samuels Mark E.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa;Dasouki;Am. J. Med. Genet. A.,2007

2. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome;Hucthagowder;Am. J. Hum. Genet.,2006

3. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model;Claus;J. Invest. Dermatol.,2008

4. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene;Markova;Am. J. Hum. Genet.,2003

5. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa;Loeys;Hum. Mol. Genet.,2002

Cited by 81 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2;Molecular Genetics and Genomics;2024-08-22

2. ITPKA phosphorylates PYCR1 and promotes the progression of glioma;Heliyon;2024-08

3. Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10;American Journal of Medical Genetics Part A;2024-05-06

4. Genetic Disorders of Collagen, Elastin and Dermal Matrix;Rook's Textbook of Dermatology;2024-02-20

5. Geroderma Osteodysplasticum (GO);Genetic Syndromes;2024