Familial Deafness Latest Advances

Identification and characterization of a novel p. S390C variant in TMC1 in an autosomal recessive family with non-syndromic hearing loss.

Journal: Acta oto-laryngologica

Published: January 26, 2026

Gene therapy for hereditary deafness: progress, achievements and future challenges.

Journal: Acta oto-laryngologica

Published: January 06, 2026

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: December 18, 2025

Interpretation of the"Expert consensus on clinical practice for pre-pregnancy and prenatal prevention of hereditary hearing loss"

Journal: Zhonghua yi xue za zhi

Published: October 26, 2025

Evolutionary tuning of an auditory transduction channel.

Journal: Current biology : CB

Published: October 23, 2025

Human promoter-driven AAV tools enable precision gene therapy targeting cochlear hair cells.

Journal: Cell reports. Medicine

Published: October 03, 2025

Dysregulation of Serpinb6a-Gch1 axis contributes to DFNB91 deafness that is amendable to gene therapies.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: September 14, 2025

The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2025

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: August 13, 2025

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.

Journal: Journal of medical genetics

Published: August 10, 2025

Establishing a comprehensive national auditory implant registry in Japan: Trends and demographics from the first two years (2023-2024).

Journal: Auris, nasus, larynx

Published: August 04, 2025

Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan.

Journal: Frontiers in pediatrics

Published: July 21, 2025

Familial Deafness Latest Advances

Find the Latest Research About Familial Deafness

Identification and characterization of a novel p. S390C variant in TMC1 in an autosomal recessive family with non-syndromic hearing loss.

Identification and characterization of a novel p. S390C variant in TMC1 in an autosomal recessive family with non-syndromic hearing loss.

Gene therapy for hereditary deafness: progress, achievements and future challenges.

Gene therapy for hereditary deafness: progress, achievements and future challenges.

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Interpretation of the"Expert consensus on clinical practice for pre-pregnancy and prenatal prevention of hereditary hearing loss"

Interpretation of the"Expert consensus on clinical practice for pre-pregnancy and prenatal prevention of hereditary hearing loss"

Evolutionary tuning of an auditory transduction channel.

Evolutionary tuning of an auditory transduction channel.

Human promoter-driven AAV tools enable precision gene therapy targeting cochlear hair cells.

Human promoter-driven AAV tools enable precision gene therapy targeting cochlear hair cells.

Dysregulation of Serpinb6a-Gch1 axis contributes to DFNB91 deafness that is amendable to gene therapies.

Dysregulation of Serpinb6a-Gch1 axis contributes to DFNB91 deafness that is amendable to gene therapies.

The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice.

The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice.

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.

Establishing a comprehensive national auditory implant registry in Japan: Trends and demographics from the first two years (2023-2024).

Establishing a comprehensive national auditory implant registry in Japan: Trends and demographics from the first two years (2023-2024).

Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan.

Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan.