Zobrazeno 1 - 10 of 111 pro vyhledávání: '"Frank Ruemmele"'
1
Akademický článek
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis
Autor: Marianna Parlato, Fabienne Charbit‐Henrion, Jie Pan, Claudio Romano, Rémi Duclaux‐Loras, Marie‐Helene Le Du, Neil Warner, Paola Francalanci, Julie Bruneau, Marc Bras, Mohammed Zarhrate, Bernadette Bègue, Nicolas Guegan, Sabine Rakotobe, Nathalie Kapel, Paola De Angelis, Anne M Griffiths, Karoline Fiedler, Eileen Crowley, Frank Ruemmele, Aleixo M Muise, Nadine Cerf‐Bensussan
Publikováno v: EMBO Molecular Medicine, Vol 10, Iss 4, Pp n/a-n/a (2018)
Abstract Herein, we report the first identification of biallelic‐inherited mutations in ALPI as a Mendelian cause of inflammatory bowel disease in two unrelated patients. ALPI encodes for intestinal phosphatase alkaline, a brush border metalloenzym
Externí odkaz: https://doaj.org/article/9e8cd61beb77431d8b75bee63fbb72fe
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2
Akademický článek
The Continental Divide: Anti-TNF Use in Pediatric IBD Is Different in North America Compared to Other Parts of the World
Autor: Peter C. Church, Jeffrey Hyams, Frank Ruemmele, Lissy de Ridder, Dan Turner, Anne M. Griffiths
Publikováno v: Canadian Journal of Gastroenterology and Hepatology, Vol 2018 (2018)
Background and Aims. Use of anti-TNF therapies varies internationally. As an initiative of the international Pediatric IBD Network (PIBDNet), we compared global pediatric IBD anti-TNF practice patterns. Methods. Physicians were surveyed about anti-TN
Externí odkaz: https://doaj.org/article/c3d2a16181e14e7183c99349220322c8
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3
V0-ATPase downregulation induces MVID-like brush border defects independently of apical trafficking in the mammalian intestine
Autor: Aurélien Bidaud-Meynard, Ophélie Nicolle, Anne Bourdais, Maela Duclos, Jad Saleh, Frank Ruemmele, Henner F Farin, Delphine Delacour, Despina Moshous, Grégoire Michaux
Publikováno v: BioRxiv
BioRxiv, 2022, ⟨10.1101/2022.11.04.515188⟩
SummaryIntestinal microvillus atrophy is a major cause of enteropathies such as idiopathic or congenital diarrhea that are often associated with severe morbidity. It can be caused by genetic disorders, inflammatory diseases, toxins or pathogens. In p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4952918ea8e1b8d5ba0b90922c9baeac
https://hal.science/hal-03854108/document
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4
Akademický článek
Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA) Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.
Autor: Shahrzad Bakhtiar, Eva Levy, Frank Ruemmele, Fabienne Chabrit-Henrion, Frédéric Rieux-Laucat, Nadine Cerf-Bensussan, Peter Bader, Ulrich Paetow
Publikováno v: Frontiers in Pediatrics, Vol 4 (2016)
Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-l
Externí odkaz: https://doaj.org/article/5a240c59f14c484a9b6e2d7a20f3c44b
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5
Development, Validation, and Evaluation of the Pediatric Inflammatory Crohn's Magnetic Resonance Enterography Index From the ImageKids Study
Autor: Gili Focht, Ruth Cytter-Kuint, Mary-Louise C. Greer, Li-Tal Pratt, Denise A. Castro, Peter C. Church, Thomas D. Walters, Jeffrey Hyams, Dan Navon, Javier Martin de Carpi, Frank Ruemmele, Richard K. Russell, Matan Gavish, Anne M. Griffiths, Dan Turner
Publikováno v: Gastroenterology. 163(5)
Cross-sectional imaging is important in the assessment of transmural inflammation in Crohn's disease (CD). Small bowel involvement is often more extensive in pediatric CD, requiring a panentering measuring tool. We undertook to develop a magnetic res
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c80299c00b7fcffb5e5be194d57f35
https://pubmed.ncbi.nlm.nih.gov/36067818
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7
Intestinal immunoregulation: lessons from human mendelian diseases
Autor: Fabienne, Charbit-Henrion, Marianna, Parlato, Georgia, Malamut, Frank, Ruemmele, Nadine, Cerf-Bensussan
Publikováno v: Mucosal immunology. 14(5)
The mechanisms that maintain intestinal homeostasis despite constant exposure of the gut surface to multiple environmental antigens and to billions of microbes have been scrutinized over the past 20 years with the goals to gain basic knowledge, but a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6891d9b82c62aedbc559c7d6702c7a23
https://pubmed.ncbi.nlm.nih.gov/33859369
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