Associated Papers
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.
Zlotina A et al.
Orphanet Journal of Rare Diseases, 2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
Aprea I et al.
Plos Genetics, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
Kurkowiak M et al.
Plos One, 2016
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Marshall CR et al.
G3 (bethesda, Md.), 2015
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
Praveen K et al.
F1000prime Reports, 2015
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Zariwala MA et al.
American Journal of Human Genetics, 2013
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ et al.
American Journal of Human Genetics, 2013
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