Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss

(2021) John Hoon Rim et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss

(2020) Xin Xia et al.   HEARING RESEARCH

SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases

(2020) Paul Hager et al.   PLoS Computational Biology

Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs

(2020) Tian Li et al.   MOLECULAR CELL

Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans

(2019) Sang-Yeon Lee et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation

(2019) Sang-Yeon Lee et al.   Clinical and Experimental Otorhinolaryngology

Structural Basis of Human KCNQ1 Modulation and Gating

(2019) Ji Sun et al.   CELL

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

Discovery of Novel Retigabine Derivatives as Potent KCNQ4 and KCNQ5 Channel Agonists with Improved Specificity

(2018) Lei Wang et al.   ACS Medicinal Chemistry Letters

PIP2 mediates functional coupling and pharmacology of neuronal KCNQ channels

(2017) Robin Y. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate

(2016) Maria Virginia Soldovieri et al.   Scientific Reports

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

(2014) Hongyang Wang et al.   PLoS One

PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating

(2014) Mark A. Zaydman et al.   Frontiers in Physiology

Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix

(2013) Takahisa Watabe et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

(2013) Nelly Abdelfatah et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

(2013) Takehiko Naito et al.   PLoS One

Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening

(2013) M. A. Zaydman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphatidylinositol 4,5-bisphosphate alters pharmacological selectivity for epilepsy-causing KCNQ potassium channels

(2013) P. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Restoration of ion channel function in deafness-causing KCNQ4 mutants by synthetic channel openers

(2011) Michael G Leitner et al.   BRITISH JOURNAL OF PHARMACOLOGY

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss

(2008) Liping Nie   Current Opinion in Otolaryngology & Head and Neck Surgery