Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.A117P
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COL1A2

NM_000089.4:p.A117P

Associated Papers

Osteogenesis Imperfecta: A Look into the Cerebellum of the Brtl Murine Model.

De Luca F et al.

Molecular Neurobiology, 2025

A novel chemical chaperone ameliorates osteoblast homeostasis and extracellular matrix in osteogenesis imperfecta.

Garibaldi N et al.

Life Sciences, 2025

Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.

Crawford TK et al.

Calcified Tissue International, 2024

Update on the Genetics of Osteogenesis Imperfecta.

Jovanovic M et al.

Calcified Tissue International, 2024

Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.

Misof BM et al.

Calcified Tissue International, 2024

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Yang L et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022

35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data

Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta.

Garibaldi N et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2021

Signaling pathways affected by mutations causing osteogenesis imperfecta.

Etich J et al.

Cellular Signalling, 2020

Osteoblasts mineralization and collagen matrix are conserved upon specific Col1a2 silencing.

Maruelli S et al.

Matrix Biology Plus, 2020

The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.

Gioia R et al.

Human Molecular Genetics, 2017

Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta.

Jacobsen CM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta.

Davis MS et al.

Bone, 2012

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta.

Panaroni C et al.

Blood, 2009

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.

Sarafova AP et al.

Human Mutation, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."