Associated Papers
A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness.
Shabbir K et al.
The Journal of Biological Chemistry, 2026
First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss.
Ghasemi H et al.
Bmc Medical Genomics, 2025
Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome.
Zehri Z et al.
Molecular Syndromology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Mohseni M et al.
Clinical Genetics, 2021
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).
Mohseni M et al.
Journal of Human Genetics, 2020
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Doll J et al.
International Journal of Molecular Sciences, 2020
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
Slavin TP et al.
Familial Cancer, 2018
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A et al.
Human Molecular Genetics, 2018
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Delmaghani S et al.
American Journal of Human Genetics, 2016
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