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

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.

European journal of human genetics : EJHG - 1 Mar 2016

Fu Xue Jun, Nozu Kandai, Kaito Hiroshi, Ninchoji Takeshi, Morisada Naoya, Nakanishi Koichi, Yoshikawa Norishige, Ohtsubo Hiromi, Matsunoshita Natsuki, Kamiyoshi Naohiro, Matsumura Chieko, Takagi Nobuaki, Maekawa Kohei, Taniguchi-Ikeda Mariko, Iijima Kazumoto

Abstract excerpt

X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although men with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and develop end-stage renal disease later in life. However, the molecular mechanisms associated with this milder phenotype have not been fully identified. We genetically diagnosed 186 patients with suspected XLAS between...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Kidney

Share to Mosaicism

Share to Nephritis, Hereditary

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 26014433
DOI: 10.1038/ejhg.2015.113
PMCID: PMC4755365

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.PMID 26014433Read ↗

Female X-linked Alport syndrome with somatic mosaicism.Semantic proximity Read ↗

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.Semantic proximity Read ↗

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.Semantic proximity Read ↗

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.Semantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.Semantic proximity Read ↗

X-Linked Glomerulopathy Due to COL4A5 Founder Variant.Semantic proximity Read ↗

A Family Report and Literature Review of X-Linked Alport Syndrome Associated With the COL4A5 c.4700G>A (p.Cys1567Tyr) Variant:A case reportSemantic proximity Read ↗

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.Semantic proximity Read ↗

The clinical spectrum of type IV collagen mutations.Semantic proximity Read ↗

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.Semantic proximity Read ↗

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.Semantic proximity Read ↗

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