Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM et al.
Human Genetics, 2024
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
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
Rhizomelic chondrodysplasia punctata and cardiac pathology.
Huffnagel IC et al.
Journal of Medical Genetics, 2013
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
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