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

Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient.

Genes - 26 Apr 2021

Kim Youn Jung, Abe Yuichi, Kim Young-Jae, Fujiki Yukio, Kim Jung-Wook

Abstract excerpt

This study aimed to identify the molecular genetic etiology of an 8-year-old boy with amelogenesis imperfecta in permanent dentition. Bilateral cochlear implants were placed due to sensorineural hearing loss, and there was no other family member with a similar phenotype. Peripheral blood samples were collected with the understanding and written consent of the participating family members. A constitutional...

Read the complete abstract on PubMed

Topics

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

Share to Amelogenesis Imperfecta
Share to CHO Cells
Share to Cricetinae

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cricetulus

Share to Hearing Loss, Sensorineural

Share to Homozygote

Share to Nails, Malformed

Share to Protein Transport

Source

Open in PubMed Open full text

Identifiers

PMID: 33926089
DOI: 10.3390/genes12050646
PMCID: PMC8146857

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient.PMID 33926089Read ↗

Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.Semantic proximity Read ↗

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.Semantic proximity Read ↗

Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.Semantic proximity Read ↗

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.Semantic proximity Read ↗

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.Semantic proximity Read ↗

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.Semantic proximity Read ↗

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.Semantic proximity Read ↗

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.Semantic proximity Read ↗

The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.Semantic proximity Read ↗

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.Semantic proximity Read ↗

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosisSemantic proximity Read ↗

Identification of intragenic mutations in the Hansenula polymorpha PEX6 gene that affect peroxisome biogenesis and methylotrophic growth.Semantic proximity Read ↗

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