Associated Papers
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D et al.
Human Genetics, 2018
In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.
Sang P et al.
Journal of Biomolecular Structure & Dynamics, 2017
Effect of the R119G mutation on human P5CR structure and its interactions with NAD: Insights derived from molecular dynamics simulation and free energy analysis.
Sang P et al.
Computational Biology and Chemistry, 2017
Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity.
Li L et al.
Biomed Research International, 2017
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B et al.
Nature Genetics, 2009
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