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

Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases.

Molecular biology and evolution - 1 Jan 2011

Stover Daryn A, Verrelli Brian C

Abstract excerpt

Collagen type I alpha 1 (COL1a1), which encodes the primary subunit of type I collagen, the main structural and most abundant protein in vertebrates, harbors hundreds of mutations linked to human diseases like osteoporosis and osteogenesis imperfecta. Previous studies have attempted to predict the phenotypic severity associated with type I collagen mutations, yet an evolutionary analysis that compares historical...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Bone Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I

Share to Collagen Type I, alpha 1 Chain

Share to Evolution, Molecular

Share to Introns

Share to Pan troglodytes

Share to Vertebrates

Source

Identifiers

PMID: 20724381
DOI: 10.1093/molbev/msq221

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases.PMID 20724381Read ↗

Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.Semantic proximity Read ↗

Natural variation in four human collagen genes across an ethnically diverse population.Semantic proximity Read ↗

A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type IISemantic proximity Read ↗

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.Semantic proximity Read ↗

Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.Semantic proximity Read ↗

Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.Semantic proximity Read ↗

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.Semantic proximity Read ↗

Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.Semantic proximity Read ↗

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.Semantic proximity Read ↗

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattleSemantic proximity Read ↗

Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.Semantic proximity Read ↗

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