Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Zhyldyz Kabaeva"'
Autor:
Cassandre Labelle-Dumais, David J Dilworth, Emily P Harrington, Michelle de Leau, David Lyons, Zhyldyz Kabaeva, M Chiara Manzini, William B Dobyns, Christopher A Walsh, Daniel E Michele, Douglas B Gould
Publikováno v:
PLoS Genetics, Vol 7, Iss 5, p e1002062 (2011)
Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of
Externí odkaz:
https://doaj.org/article/798ef0f45e0e4478b76850bff3d09afd
Autor:
Tiffaney Tran, Peggy R. Cyr, Alex Verdieck, Miranda D. Lu, Hadjh T. Ahrns, Elizabeth G. Berry, William Bowen, Ralph P. Braun, Joshua M. Cusick-Lewis, Hung Q. Doan, Valerie L. Donohue, Deborah R. Erlich, Laura K. Ferris, Evelyne Harkemanne, Rebecca I. Hartman, James Holt, Natalia Jaimes, Timothy A. Joslin, Zhyldyz Kabaeva, Tracey N. Liebman, Joanna Ludzik, Ashfaq A. Marghoob, Isac Simpson, Jennifer A. Stein, Daniel L. Stulberg, Isabelle Tromme, Matthew J. Turnquist, Richard P. Usatine, Alison M. Walker, Bryan L. Walker, Robert F. West, Megan L. Wilson, Alexander Witkowski, Dominic J. Wu, Elizabeth V. Seiverling, Kelly C. Nelson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d620c5d8ecb281b5387026f7e762ee
https://ruj.uj.edu.pl/xmlui/handle/item/309530
https://ruj.uj.edu.pl/xmlui/handle/item/309530
Autor:
Zhyldyz Kabaeva, Scott A. Flanders, Nabil Fallouh, Helen McGuirk, Vineet Chopra, Christina Healy, Jennifer Meddings, Shawna N. Smith, Brian Salata
Publikováno v:
Thrombosis Research. 135:829-834
Background Peripherally inserted central catheters (PICCs) are associated with upper extremity-deep vein thrombosis (DVT). However, patterns, risk factors and treatment associated with this event remain poorly defined. Objective To determine patterns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a65a4227daecacfb6760f294e9ada2
https://doi.org/10.1016/j.thromres.2015.02.012
https://doi.org/10.1016/j.thromres.2015.02.012
Autor:
Carol S. Davis, Daniel E. Michele, Susan V. Brooks, Zhyldyz Kabaeva, John M. Hayes, Jessica D. Gumerson
Publikováno v:
Human Molecular Genetics. 22:757-768
Mutations in several glycosyltransferases underlie a group of muscular dystrophies known as glycosylation-deficient muscular dystrophy. A common feature of these diseases is loss of glycosylation and consequent dystroglycan function that is correlate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::903bcc5eadfa5eea26391a653c7afcf3
https://doi.org/10.1093/hmg/dds483
https://doi.org/10.1093/hmg/dds483
Publikováno v:
Human Molecular Genetics. 20:3346-3355
The abnormal glycosylation and loss of extracellular matrix receptor function of the protein dystroglycan (DG) lead to the development of muscular dystrophy and cardiomyopathy. Dystroglycan is an important receptor for extracellular matrix proteins,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d837566921b1396e86aa17ca0c4f1a
https://doi.org/10.1093/hmg/ddr240
https://doi.org/10.1093/hmg/ddr240
Publikováno v:
American Journal of Physiology-Cell Physiology. 299:C1430-C1440
The glycosylation of dystroglycan is required for its function as a high-affinity laminin receptor, and loss of dystroglycan glycosylation results in congenital muscular dystrophy. The purpose of this study was to investigate the functional defects i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b5265d768f1097356f52520f802671a
https://doi.org/10.1152/ajpcell.00192.2010
https://doi.org/10.1152/ajpcell.00192.2010
Publikováno v:
Circulation Research. 105:984-993
Rationale: Genetic mutations in a number of putative glycosyltransferases lead to the loss of glycosylation of dystroglycan and loss of its laminin-binding activity in genetic forms of human muscular dystrophy. Human patients and glycosylation defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196d6cacdec0e50b12c19e2b61fd915a
https://doi.org/10.1161/circresaha.109.199489
https://doi.org/10.1161/circresaha.109.199489
Publikováno v:
American Journal of Physiology-Heart and Circulatory Physiology. 294:H1667-H1674
The characterization of cellular phenotypes of heart disorders can be achieved by isolating cardiac myocytes from mouse models or genetically modifying wild-type cells in culture. However, adult mouse cardiac myocytes show extremely low tolerance to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1920131568a3e7f99576d6eb0201f61c
https://doi.org/10.1152/ajpheart.01144.2007
https://doi.org/10.1152/ajpheart.01144.2007
Autor:
Rainer Dietz, Bakytbek Imanov, Mirsaid M. Mirrakhimov, Karl Josef Osterziel, Nana Bit-Avragim, Bernard Hoffmann, Reinhard Geßner, Dinara A. Usupbaeva, Raisa I. Rudenko, Andreas Perrot, Zhyldyz Kabaeva, Hajo Schmidt-Traub, Michal Tendera, Matthias Prager, Anna Wycisk, Heiko Witt
Publikováno v:
Journal of Molecular Medicine. 83:468-477
Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy. Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b3b1d118d55a981b692a25fcec82bf
https://doi.org/10.1007/s00109-005-0635-7
https://doi.org/10.1007/s00109-005-0635-7
Autor:
Correia Jm, Andreas Perrot, Zhyldyz Kabaeva, Bastian Wolter, Karl Josef Osterziel, Nuno Cardim, Almaz Aldashev, Rainer Dietz, Mirsaid M. Mirrakhimov, Hagen D. Schulte
Publikováno v:
European Journal of Human Genetics. 10:741-748
Hypertrophic cardiomyopathy (HCM) can be caused by mutations in genes encoding for the ventricular myosin essential and regulatory light chains. In contrast to other HCM disease genes, only a few studies describing disease-associated mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6145cb56164fe87b4277467ce7735e76
https://doi.org/10.1038/sj.ejhg.5200872
https://doi.org/10.1038/sj.ejhg.5200872