Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Wayne A Cabral"'
Autor:
Masahiko Terajima, Yuki Taga, Wayne A Cabral, Ying Liu, Masako Nagasawa, Noriko Sumida, Yukako Kayashima, Prashant Chandrasekaran, Lin Han, Nobuyo Maeda, Irina Perdivara, Shunji Hattori, Joan C Marini, Mitsuo Yamauchi
Publikováno v:
PLoS Genetics, Vol 15, Iss 6, p e1008196 (2019)
Covalent intermolecular cross-linking of collagen is essential for tissue stability. Recent studies have demonstrated that cyclophilin B (CypB), an endoplasmic reticulum (ER)-resident peptidyl-prolyl cis-trans isomerase, modulates lysine (Lys) hydrox
Externí odkaz:
https://doaj.org/article/972c451e742c44a0933743c55be8b896
Autor:
Indeevar Beeram, Maria Belen Cubria, Pramod Kamalapathy, Diana Yeritsyan, Amanda J. Dubose, Ahmad Hedayatzadeh Razavi, Nazanin Nafisi, Michael R. Erdos, Brian D. Snyder, Wayne A. Cabral, Francis S. Collins, Ara Nazarian
Publikováno v:
Frontiers in Physiology, Vol 15 (2024)
IntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a trans
Externí odkaz:
https://doaj.org/article/56cce805938146f7bdca8758dc8de959
Autor:
Wayne A Cabral, Masaki Ishikawa, Matthias Garten, Elena N Makareeva, Brandi M Sargent, MaryAnn Weis, Aileen M Barnes, Emma A Webb, Nicholas J Shaw, Leena Ala-Kokko, Felicitas L Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S Blank, Joshua Zimmerberg, David R Eyre, Yoshihiko Yamada, Joan C Marini
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006156 (2016)
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 in TMEM38B was identified. TMEM38B encod
Externí odkaz:
https://doaj.org/article/658422182509483ea7dca5eabb1f1822
Autor:
Wayne A Cabral, Irina Perdivara, MaryAnn Weis, Masahiko Terajima, Angela R Blissett, Weizhong Chang, Joseph E Perosky, Elena N Makareeva, Edward L Mertz, Sergey Leikin, Kenneth B Tomer, Kenneth M Kozloff, David R Eyre, Mitsuo Yamauchi, Joan C Marini
Publikováno v:
PLoS Genetics, Vol 10, Iss 6, p e1004465 (2014)
Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing t
Externí odkaz:
https://doaj.org/article/ff8393fe2e554225a6fb156176fe0036
Autor:
Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel, Joan C. Marini, Timothy Bhattacharyya
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associate
Externí odkaz:
https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a43
Autor:
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N. Makareeva, Andreas R. Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis a
Externí odkaz:
https://doaj.org/article/a84048b3358e400b90b24ee8963af381
Autor:
MaryAnn Weis, Nadja Fratzl-Zelman, Paul Roschger, Joseph E. Perosky, Sergey Leikin, Wayne A. Cabral, David R. Eyre, Kenneth M. Kozloff, Heeseog Kang, Peter S. Backlund, Elena Makareeva, Antonella Forlino, Joan C. Marini, Adrienne Alimasa, Rachel Harris, Klaus Klaushofer, Aileen M. Barnes
Publikováno v:
Matrix Biol
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 of the ER prolyl 3-hydroxylatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a617e2ff3015475deb503107c513a3
https://doi.org/10.1016/j.matbio.2020.02.003
https://doi.org/10.1016/j.matbio.2020.02.003
Autor:
Wayne A. Cabral, Maria B. Cubria, Ara Nazarian, Pramod Kamalapathy, Amanda J. DuBose, Aidin Masoudi, Michael R. Erdos, Ramin Oftadeh, Sebastian Suarez, Francis S. Collins, Brian D. Snyder, Lamya Karim
Publikováno v:
Proc Natl Acad Sci U S A
Hutchinson–Gilford progeria syndrome (HGPS) is a uniformly fatal condition that is especially prevalent in skin, cardiovascular, and musculoskeletal systems. A wide gap exists between our knowledge of the disease and a promising treatment or cure.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08726626d00c1a8f66aa67292bac691d
https://doi.org/10.1073/pnas.1906713117
https://doi.org/10.1073/pnas.1906713117
Autor:
Yoseph D Boku, Francis S. Collins, Michael Eckhaus, Wayne A. Cabral, Ara Nazarian, Michael R. Erdos, Urraca Tavarez, Indeevar Beeram, Diana Yeritsyan
Publikováno v:
Aging Cell
Hutchinson‐Gilford progeria syndrome (HGPS) is a rare accelerated aging disorder most notably characterized by cardiovascular disease and premature death from myocardial infarction or stroke. The majority of cases are caused by a de novo single nuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf44e3f0c902cdadcccb9c056436b78d
https://doi.org/10.1111/acel.13457
https://doi.org/10.1111/acel.13457
Autor:
Peter Fratzl, Wayne A. Cabral, Joan C. Marini, Andreas Roschger, Nadja Fratzl-Zelman, Stéphane Blouin, Paul Roschger, Klaus Klaushofer
Publikováno v:
J Mech Behav Biomed Mater
Higher skeletal fragility has been established for the Brtl/+ mouse model of osteogenesis imperfecta at the whole bone level, but previous investigations of mechanical properties at the bone material level were inconclusive. Bone material was analyze
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62497c55e2aae90a092917e3f0d0627
https://doi.org/10.1016/j.jmbbm.2018.10.010
https://doi.org/10.1016/j.jmbbm.2018.10.010