Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Fallatah W et al.
Journal of Inherited Metabolic Disease, 2021
The type-2 peroxisomal targeting signal.
Kunze M
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Congenital heart defects common in rhizomelic chondrodysplasia punctata.
Duker AL et al.
American Journal of Medical Genetics. Part A, 2016
PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.
Nanetti L et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
Phadke SR et al.
Journal of Applied Genetics, 2010
Peroxisome biogenesis disorders.
Steinberg SJ et al.
Biochimica Et Biophysica Acta, 2006
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N et al.
Human Mutation, 2002
Isolation of Chinese hamster ovary cell pex mutants: two PEX7-defective mutants.
Yanago E et al.
Biochemical and Biophysical Research Communications, 2002
Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells.
Mukai S et al.
The Journal of Biological Chemistry, 2002
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM et al.
American Journal of Human Genetics, 2002
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
Purdue PE et al.
Neurochemical Research, 1999
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
Moser AB et al.
Annals of Neurology, 1999
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
Shimozawa N et al.
Journal of Human Genetics, 1999
A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.
Elgersma Y et al.
The Journal of Cell Biology, 1998
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Braverman N et al.
Nature Genetics, 1997
[Biogenesis of peroxisome--targeting signal and peroxisome assembly factor].
Fujiki Y
No to Hattatsu = Brain and Development, 1992