Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness.
Jiang L et al.
American Journal of Human Genetics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E et al.
American Journal of Medical Genetics. Part A, 2024
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Zhang L et al.
Bmc Medical Genomics, 2024
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
Antunes LN et al.
Frontiers in Genetics, 2024
MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
Li W et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review.
Wang Z et al.
Laryngoscope Investigative Otolaryngology, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.
Jayadev R et al.
Science Advances, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Safka Brozkova D et al.
Genes, 2021
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
Amalou G et al.
International Journal of Pediatric Otorhinolaryngology, 2021
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Wesdorp M et al.
American Journal of Human Genetics, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Bademci G et al.
Human Genetics, 2018
[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China].
Dai P et al.
Zhonghua Yi Xue Za Zhi, 2007
[The roles of connexin genes in sporadic hearing loss population].
Li QZ et al.
Zhonghua Yi Xue Za Zhi, 2007
[A study on PARKIN gene in three pedigrees with autosomal recessive early-onset Parkinson's disease].
Jin M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
[Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].
Li W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002