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

Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.

Scientific reports - 28 Dec 2024

Li Kang, Huo Chunmao, Long Hong, Tang Ketong, Zhang Shibin

Abstract excerpt

Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation...

Read the complete abstract on PubMed

Topics

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

Share to Deafness
Share to Disease Models, Animal
Share to Microphthalmia-Associated Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Pigmentation Disorders

Share to Polymorphism, Single Nucleotide

Share to Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 39732942
DOI: 10.1038/s41598-024-82975-7
PMCID: PMC11682210

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.PMID 39732942Read ↗

Identification of MITF Gene Mutation in Porcupines: A Novel Link to Congenital Deafness and Pigmentation DisordersSemantic proximity Read ↗

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.Semantic proximity Read ↗

Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.Semantic proximity Read ↗

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.Semantic proximity Read ↗

A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.Semantic proximity Read ↗

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.Semantic proximity Read ↗

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.Semantic proximity Read ↗

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.Semantic proximity Read ↗

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.Semantic proximity Read ↗

Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.Semantic proximity Read ↗

Genetic investigation of 93 families with microphthalmia or posterior microphthalmosSemantic proximity Read ↗

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Semantic proximity Read ↗

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