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 tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.

Genome research - 1 Apr 1996

Siracusa L D, McGrath R, Ma Q, Moskow J J, Manne J, Christner P J, Buchberg A M, Jimenez S A

Abstract excerpt

Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules. These and other connective tissue abnormalities have made Tskl + mice models for scleroderma, hereditary emphysema, and myocardial hypertrophy. Previously we localized Tsk to mouse chromosome 2 in a region syntenic with human chromosome 15. The microfibrillar...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Chromosome Mapping

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

Share to Molecular Sequence Data

Share to Mutation

Share to Phenotype

Share to RNA, Messenger

Source

Identifiers

PMID: 8723723
DOI: 10.1101/gr.6.4.300

Genes

FBN1

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

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.PMID 8723723Read ↗

Mutant fibrillin 1 from tight skin mice increases extracellular matrix incorporation of microfibril-associated glycoprotein 2 and type I collagen.Semantic proximity Read ↗

Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse.Semantic proximity Read ↗

Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15.Semantic proximity Read ↗

Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice.Semantic proximity Read ↗

Marfan-like skeletal phenotype in the tight skin (Tsk) mouse.Semantic proximity Read ↗

New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse.Semantic proximity Read ↗

The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.Semantic proximity Read ↗

The tight skin 2 mouse. An animal model of scleroderma displaying cutaneous fibrosis and mononuclear cell infiltration.Semantic proximity Read ↗

The tight skin (Tsk) mutation in the mouse, a model for human fibrotic diseases, is tightly linked to the beta 2-microglobulin (B2m) gene on chromosome 2.Semantic proximity Read ↗

A high-resolution linkage map of the tight skin 2 (Tsk2) locus: a mouse model for scleroderma (SSc) and other cutaneous fibrotic diseases.Semantic proximity Read ↗

Regulation of collagen gene expression in the Tsk2 mouse.Semantic proximity Read ↗

Fibrillin in Marfan syndrome and tight skin mice provides new insights into transforming growth factor-beta regulation and systemic sclerosis.Semantic proximity Read ↗

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