Fibrillin protein pleiotropy: Acromelic dysplasias.

doi:10.1016/j.matbio.2018.09.005

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

Back to search

Article

Fibrillin protein pleiotropy: Acromelic dysplasias.

Matrix biology : journal of the International Society for Matrix Biology - 1 Jul 2019

Sakai Lynn Y, Keene Douglas R

Abstract excerpt

The fibrillins are large extracellular matrix molecules that polymerize to form microfibrils. Fibrillin microfibrils are distinctive architectural elements that are both ubiquitous in the connective tissue space and also unique, displaying tissue-specific patterns. Mutations in the genes for fibrillin-1 (FBN1) result in multiple distinct pleiotropic disorders. Most of the more than 3000 mutations known today in...

Topics

Bone Diseases, Developmental
Contracture
Fibrillin-1
Genetic Predisposition to Disease
Humans
Limb Deformities, Congenital
Musculoskeletal Development
Mutation
Protein Domains
Skin Diseases, Genetic

Source

Open in PubMed

Identifiers

PMID: 30219651
DOI: 10.1016/j.matbio.2018.09.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics