Associated Papers
Successful pre-implantation genetic testing for autosomal recessive cutis laxa: clinical utility of a multidisciplinary team approach.
Huang Q et al.
Journal of Assisted Reproduction and Genetics, 2025
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
Huang YW et al.
Aging and Disease, 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
27677826 (PubMed )
Supplement: supplement_1.zip › Supplementary_file › Supplementary_Information.doc
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Lin DS et al.
American Journal of Medical Genetics. Part A, 2011
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