Aileen M Barnes
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Explore the profile of Aileen M Barnes including associated specialties, affiliations and a list of published articles.
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31
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2103
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Recent Articles
1.
El-Gazzar A, Kang H, Fratzl-Zelman N, Webb E, Barnes A, Jovanovic M, et al.
Bone Rep
. 2022 Jul;
17:101603.
PMID: 35874167
Loss-of-function mutations in cause Loeys-Dietz syndrome type 3 (LDS3), a rare autosomal-dominant connective tissue disorder characterized by vascular pathology and skeletal abnormalities. Dysregulation of TGF-β/SMAD signaling is associated with abnormal...
2.
Garibaldi N, Besio R, Dalgleish R, Villani S, Barnes A, Marini J, et al.
Dis Model Mech
. 2022 May;
15(5).
PMID: 35575034
Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon...
3.
Kang H, Aryal Ac S, Barnes A, Martin A, David V, Crawford S, et al.
J Bone Miner Res
. 2022 Mar;
37(5):925-937.
PMID: 35258129
Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder of bone and connective tissue, also known as brittle bone disease. Null mutations in SERPINF1, which encodes pigment epithelium-derived factor (PEDF), cause...
4.
Cabral W, Fratzl-Zelman N, Weis M, Perosky J, Alimasa A, Harris R, et al.
Matrix Biol
. 2020 Mar;
90:20-39.
PMID: 32112888
Null mutations in CRTAP or P3H1, encoding cartilage-associated protein and prolyl 3-hydroxylase 1, cause the severe bone dysplasias, types VII and VIII osteogenesis imperfecta. Lack of either protein prevents formation...
5.
Mumm S, Gottesman G, Wenkert D, Campeau P, Nenninger A, Huskey M, et al.
Bone
. 2019 Sep;
130:115047.
PMID: 31472299
Bruck syndrome (BRKS) is the rare disorder that features congenital joint contractures often with pterygia and subsequent fractures, also known as osteogenesis imperfecta (OI) type XI (OMIM # 610968). Its...
6.
Barnes A, Ashok A, Makareeva E, Brusel M, Cabral W, Weis M, et al.
Biochim Biophys Acta Mol Basis Dis
. 2019 May;
1865(9):2210-2223.
PMID: 31055083
Mutations in the type I procollagen C-propeptide occur in ~6.5% of Osteogenesis Imperfecta (OI) patients. They are of special interest because this region of procollagen is involved in α chain...
7.
Zou Y, Donkervoort S, Salo A, Foley A, Barnes A, Hu Y, et al.
Hum Mol Genet
. 2017 Apr;
26(12):2207-2217.
PMID: 28419360
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H...
8.
Cabral W, Ishikawa M, Garten M, Makareeva E, Sargent B, Weis M, et al.
PLoS Genet
. 2016 Jul;
12(7):e1006156.
PMID: 27441836
Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations...
9.
Fratzl-Zelman N, Barnes A, Weis M, Carter E, Hefferan T, Perino G, et al.
J Clin Endocrinol Metab
. 2016 Jul;
101(9):3516-25.
PMID: 27383115
Context: Type VIII osteogenesis imperfecta (OI; OMIM 601915) is a recessive form of lethal or severe OI caused by null mutations in P3H1, which encodes prolyl 3-hydroxylase 1. Objectives: Clinical...
10.
Lindert U, Cabral W, Ausavarat S, Tongkobpetch S, Ludin K, Barnes A, et al.
Nat Commun
. 2016 Jul;
7:11920.
PMID: 27380894
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in...