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

Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys.

Acta dermato-venereologica - 31 Jan 2022

Lee Sang Gyun, Kim Song Ee, Kim Soo-Chan, Lee Sang Eun

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Integrins
Share to Kidney
Share to Lung
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34904685
DOI: 10.2340/actadv.v101.897
PMCID: PMC9631242

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys.PMID 34904685Read ↗

Integrin α3 mutations with kidney, lung, and skin disease.Semantic proximity Read ↗

Integrin mutations in blistering skin diseases and related genetically engineered mouse models.Semantic proximity Read ↗

A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle.Semantic proximity Read ↗

A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.Semantic proximity Read ↗

A Skin-depth Analysis of Integrins: Role of the Integrin Network in Health and DiseaseSemantic proximity Read ↗

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.Semantic proximity Read ↗

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in HumansSemantic proximity Read ↗

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.Semantic proximity Read ↗

Genetic analysis of integrin function in man: LAD-1 and other syndromesSemantic proximity Read ↗

Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammationSemantic proximity Read ↗

Roles for epithelial integrin α3β1 in regulation of the microenvironment during normal and pathological tissue remodelingSemantic proximity Read ↗

Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation.Semantic proximity Read ↗

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