Mary Ann Weis
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Explore the profile of Mary Ann Weis including associated specialties, affiliations and a list of published articles.
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23
Citations
1019
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Recent Articles
1.
Marom R, Burrage L, Venditti R, Clement A, Blanco-Sanchez B, Jain M, et al.
Am J Hum Genet
. 2021 Aug;
108(9):1710-1724.
PMID: 34450031
Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that...
2.
Csukasi F, Duran I, Zhang W, Martin J, Barad M, Bamshad M, et al.
Hum Mutat
. 2019 Aug;
40(12):2344-2352.
PMID: 31389106
Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletal dysplasia characterized by a small chest and short long bones with bowing of the lower extremities. CD is the result...
3.
Grigelioniene G, Suzuki H, Taylan F, Mirzamohammadi F, Borochowitz Z, Ayturk U, et al.
Nat Med
. 2019 Feb;
25(4):583-590.
PMID: 30804514
MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression. Heterozygous loss-of-function point mutations of miRNA genes are associated with several human congenital disorders, but neomorphic (gain-of-new-function) mutations in miRNAs due to...
4.
Duran I, Martin J, Weis M, Krejci P, Konik P, Li B, et al.
J Bone Miner Res
. 2017 Feb;
32(6):1309-1319.
PMID: 28177155
Lysine hydroxylation of type I collagen telopeptides varies from tissue to tissue, and these distinct hydroxylation patterns modulate collagen cross-linking to generate a unique extracellular matrix. Abnormalities in these patterns...
5.
Lindert U, Weis M, Rai J, Seeliger F, Hausser I, Leeb T, et al.
J Biol Chem
. 2015 May;
290(29):17679-17689.
PMID: 26004778
Osteogenesis imperfecta (OI) is a heritable connective tissue disease characterized by bone fragility and increased risk of fractures. Up to now, mutations in at least 18 genes have been associated...
6.
Lietman C, Marom R, Munivez E, Bertin T, Jiang M, Chen Y, et al.
J Bone Miner Res
. 2014 Sep;
30(3):489-98.
PMID: 25251575
Osteogenesis imperfecta (OI) type V is characterized by increased bone fragility, long bone deformities, hyperplastic callus formation, and calcification of interosseous membranes. It is caused by a recurrent mutation in...
7.
Grafe I, Yang T, Alexander S, Homan E, Lietman C, Ming Jiang M, et al.
Nat Med
. 2014 May;
20(6):670-5.
PMID: 24793237
Osteogenesis imperfecta (OI) is a heritable disorder, in both a dominant and recessive manner, of connective tissue characterized by brittle bones, fractures and extraskeletal manifestations. How structural mutations of type...
8.
Homan E, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, et al.
PLoS Genet
. 2014 Jan;
10(1):e1004121.
PMID: 24465224
Mutations in the genes encoding cartilage associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1 encoded by LEPRE1) were the first identified causes of recessive Osteogenesis Imperfecta (OI). These proteins, together...
9.
McAlinden A, Traeger G, Hansen U, Weis M, Ravindran S, Wirthlin L, et al.
Matrix Biol
. 2013 Oct;
34:105-13.
PMID: 24113490
Until now, no biological tools have been available to determine if a cross-linked collagen fibrillar network derived entirely from type IIA procollagen isoforms, can form in the extracellular matrix (ECM)...
10.
Eyre D, Weis M
Calcif Tissue Int
. 2013 Mar;
93(4):338-47.
PMID: 23508630
Until 2006 the only mutations known to cause osteogenesis imperfecta (OI) were in the two genes coding for type I collagen chains. These dominant mutations affecting the expression or primary...