Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Human genetics - 1 Jul 2018

Wang Li, Feng Yong, Yan Denise, Qin Litao, Grati M'hamed, Mittal Rahul, Li Tao, Sundhari Abhiraami Kannan, Liu Yalan, Chapagain Prem, Blanton Susan H, Liao Shixiu, Liu Xuezhong

Abstract excerpt

Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent advances in technology, using targeted capture and next-generation sequencing (NGS), is changing the face of gene identification and making it possible to rapidly and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cochlea
Share to Cyclic AMP

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Exome Sequencing

Share to Genes, Dominant

Share to Homeostasis

Share to Lysosomal Membrane Proteins

Share to Lysosomes

Source

Open in PubMed Open full text

Identifiers

PMID: 29860631
DOI: 10.1007/s00439-018-1895-y
PMCID: PMC6560636

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.PMID 29860631Read ↗

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.Semantic proximity Read ↗

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.Semantic proximity Read ↗

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.Semantic proximity Read ↗

Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing lossSemantic proximity Read ↗

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.Semantic proximity Read ↗

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.Semantic proximity Read ↗

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelaySemantic proximity Read ↗

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.Semantic proximity Read ↗

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.Semantic proximity Read ↗

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.Semantic proximity Read ↗

Two novel PDE6C gene mutations in Chinese family with achromatopsia.Semantic proximity Read ↗

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.