List of works - Aileen M Barnes

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

scientific article published on 26 January 2012

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor

scientific article

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

scientific article

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

scientific article

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

scientific article published on 21 July 2016

Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta

scientific article published on 12 April 2016

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

scientific article

COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

scientific article published on 02 May 2019

Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

scientific article published on 18 May 2007

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

scientific article

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

scientific article published on 19 October 2011

Dissecting the phenotypic variability of osteogenesis imperfecta

scientific article published in 2022

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

scientific article published on 08 July 2013

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

scientific article published on 06 July 2016

Netrin-1 and semaphorin 3A promote or inhibit cortical axon branching, respectively, by reorganization of the cytoskeleton.

scientific article

New perspectives on osteogenesis imperfecta ⬇️

scientific article published on June 14, 2011

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

scientific article published on 6 July 2016

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

scientific article published on 13 April 2017

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

scientific article

Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

scientific article published on 11 December 2007

Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia

scientific article published on 26 February 2020

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

scientific article

List of works by Aileen M Barnes

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

Dissecting the phenotypic variability of osteogenesis imperfecta

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Netrin-1 and semaphorin 3A promote or inhibit cortical axon branching, respectively, by reorganization of the cytoskeleton.

New perspectives on osteogenesis imperfecta ⬇️

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.