Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2-Reference-Cited by-同舟云学术

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Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2

Published:2013-06 Issue:6 Volume:56 Page:336-339
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Scherrer D.Z.,Baptista M.B.,Matos A.H.B.,Maurer-Morelli C.V.,Steiner C.E.

Funder

State of São Paulo Research Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference7 articles.

1. Cutis laxa with growth and development delay, wrinkly skin syndrome or gerodermia osteodysplastica: report of two unrelated patients and literature review;Steiner;Genet. Mol. Biol.,2005

2. Type II autossomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes;Scherrer;Am. J. Med. Genet. A,2008

3. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin;Hennies;Nat. Genet.,2008

4. Mutations in PYCR1 cause cutis laxa with progeroid features;Reversade;Nat. Genet.,2009

5. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2;Guernsey;Am. J. Hum. Genet.,2009

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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. 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

3. PYCR1 regulates TRAIL‑resistance in non‑small cell lung cancer cells by regulating the redistribution of death receptors;Oncology Letters;2024-03-19

4. PYCR1: A Potential Prognostic Biomarker in Pancreatic Ductal Adenocarcinoma;Journal of Cancer;2022

5. Genetic analysis of Pycr1 and Pycr2 in mice;Genetics;2021-03-18

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