Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Autor: Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F. J., Slivano, Orazio J., Burns, Alan J., Christie, Christine K., de Mesy Bentley, Karen L., Brooks, Alice S., Tibboel, Dick, Xu, Suowen, Jin, Zheng Gen, Djuwantono, Tono, Yan, Wei, Alves, Maria M., Hofstra, Robert M. W., Miano, Joseph M.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2017 Mar . 114(13), E2738-E2747.

Externí odkaz: https://www.jstor.org/stable/26480384

A comparative proteomic study of sera in paediatric systemic lupus erythematosus patients and in healthy controls using MALDI-TOF-TOF and LC MS–A pilot study

Autor: Rana Anita, Minz Ranjana W, Aggarwal Ritu, Sharma Sadhna, Pasricha Neelam, Anand Shashi, Singh Surjit

Publikováno v: Pediatric Rheumatology Online Journal, Vol 10, Iss 1, p 24 (2012)

Abstract Background Paediatric systemic lupus erythematosus (pSLE) exhibits an aggressive clinical phenotype with severe complications and overall poor prognosis. The aim of this study was to analyse differential expression of low molecular weight (L

Externí odkaz: https://doaj.org/article/926dd1526cf84ef0a9157a7d363b095d

Gene discovery and mechanism of disease in the myopathies

Autor: Best, Heather Annette

Congenital myopathy and muscular dystrophy are two groups of inherited muscle diseases characterised by muscle weakness, and sub-classified by hallmark pathological features within a skeletal muscle biopsy. In order to understand the pathogenesis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______293::392e3a055f97c4097c328ea331970b68
https://hdl.handle.net/2123/18940

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Autor: Dick Tibboel, Wei Yan, Rutger W W Brouwer, Tono Djuwantono, Qing Lyu, Alice S. Brooks, Erwin Brosens, Alan J. Burns, Karen L. de Mesy Bentley, Joke B. G. M. Verheij, Hans J. Stoop, Suowen Xu, Christine K. Christie, Maria M. Alves, Joseph M. Miano, Daniel Oliver, Orazio J. Slivano, Vivek Nanda, Wilfred F. J. van IJcken, Zheng Gen Jin, Michael Doukas, Michael P. Wilson, Danny Halim, Robert M.W. Hofstra, Yu Han

Publikováno v: Proceedings of the National Academy of Sciences of the U.S.A., 114(13), E2739-E2747. National Academy of Sciences
Proceedings of the National Academy of Science of the United States of America, 114(13), E2739-E2747. NATL ACAD SCIENCES

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc548a35984283da87acebfc178921d
https://pure.eur.nl/en/publications/4acfe589-9d42-4512-97f7-5fce3f8c06cb

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