M
MaryAnn Weis
Researcher at University of Washington
Publications - 96
Citations - 6678
MaryAnn Weis is an academic researcher from University of Washington. The author has contributed to research in topics: Osteogenesis imperfecta & Type I collagen. The author has an hindex of 43, co-authored 96 publications receiving 5893 citations.
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Journal ArticleDOI
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Roy Morello,Terry Bertin,Yuqing Chen,Yuqing Chen,John Hicks,Laura Tonachini,Massimiliano Monticone,Patrizio Castagnola,Frank Rauch,Frank Rauch,Francis H. Glorieux,Francis H. Glorieux,Janice A. Vranka,Janice A. Vranka,Hans Peter Bächinger,Hans Peter Bächinger,James M. Pace,Ulrike Schwarze,Peter H. Byers,MaryAnn Weis,Russell J. Fernandes,David R. Eyre,Zhenqiang Yao,Brendan F. Boyce,Brendan Lee,Brendan Lee,Brendan Lee +26 more
TL;DR: In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms, and dysregulation of prolyl 3-hydroxylation is a mechanism for connective tissue disease.
Journal ArticleDOI
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
Wayne A. Cabral,Weizhong Chang,Aileen M. Barnes,MaryAnn Weis,Melissa A Scott,Sergey Leikin,Elena Makareeva,Natalia V. Kuznetsova,Kenneth N. Rosenbaum,Cynthia J. Tifft,Dorothy I. Bulas,Chahira Kozma,Peter A. Smith,David R. Eyre,Joan C. Marini +14 more
TL;DR: The first five cases of a new recessive bone disorder resulting from null LEPRE1 alleles are presented; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features and a mutant allele from West Africa occurs in four of five cases.
Journal ArticleDOI
Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta
Aileen M. Barnes,Weizhong Chang,Roy Morello,Wayne A. Cabral,MaryAnn Weis,David R. Eyre,Sergey Leikin,Elena Makareeva,Natalia V. Kuznetsova,Thomas E Uveges,Aarthi Ashok,Armando Flor,John J. Mulvihill,Patrick L. Wilson,Usha T. Sundaram,Brendan Lee,Joan C. Marini +16 more
TL;DR: Three of 10 children with lethal or severe osteogenesis imperfecta were found to have a recessive condition resulting in CRTAP deficiency, suggesting that prolyl 3-hydroxylation of type I collagen is important for bone formation.
Journal ArticleDOI
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
Helena E. Christiansen,Ulrike Schwarze,Shawna M. Pyott,Abdulrahman Alswaid,Mohammed Al Balwi,Shatha Alrasheed,Melanie Pepin,MaryAnn Weis,David R. Eyre,Peter H. Byers +9 more
TL;DR: Findings suggest that HSP47 monitors the integrity of the triple helix of type I procollagen at the ER/cis-Golgi boundary and, when absent, the rate of transit from the ER to the Golgi is increased and helical structure is compromised.
Journal ArticleDOI
Articular cartilage collagen: an irreplaceable framework?
TL;DR: New evidence is presented that collagen type III becomes covalently added to the polymeric fabric of adult human articular cartilage, perhaps as part of a matrix repair or remodelling process.