Associated Papers
Wide Spectrum of Disease Manifestations in Siblings With Primary Ciliary Dyskinesia Carrying DNAJB13 Mutations: A Case Study.
Suryadinata R et al.
Journal of Paediatrics and Child Health, 2025
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
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.
Li K et al.
Human Reproduction Update, 2025
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.
Li WN et al.
Andrology, 2020
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E et al.
American Journal of Human Genetics, 2016
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