Literature DB >> 19633571

Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy.

Ingo Borggraefe1, Sibylle Koletzko, Tina Arenz, Monika Fuehrer, Florian Hoffmann, Inderjeet Dokal, Tom Vulliamy, Véronique Weiler, Matthias Griese, Bernd H Belohradsky, Thomas Lang.   

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Year:  2009        PMID： 19633571     DOI： 10.1097/MPG.0b013e3181a15b94

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  8 in total

1.  The gastrointestinal manifestations of telomere-mediated disease.

Authors:  Naudia L Jonassaint; Nini Guo; Joseph A Califano; Elizabeth A Montgomery; Mary Armanios
Journal:  Aging Cell       Date:  2013-01-04       Impact factor: 9.304

2.  Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita.

Authors:  Dong-Hun Woo; Qijun Chen; Ting-Lin B Yang; M Rebecca Glineburg; Carla Hoge; Nicolae A Leu; F Brad Johnson; Christopher J Lengner
Journal:  Cell Stem Cell       Date:  2016-08-18       Impact factor: 24.633

3.  Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Authors:  Ashley M Burris; Bari J Ballew; Joshua B Kentosh; Clesson E Turner; Scott A Norton; Neelam Giri; Blanche P Alter; Anandani Nellan; Christopher Gamper; Kip R Hartman; Sharon A Savage
Journal:  Pediatr Neurol       Date:  2015-12-19       Impact factor: 3.372

Review 4.  Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Authors:  Galina Glousker; Fabien Touzot; Patrick Revy; Yehuda Tzfati; Sharon A Savage
Journal:  Br J Haematol       Date:  2015-05-04       Impact factor: 6.998

Review 5.  Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.

Authors:  Julia Pazmandi; Artem Kalinichenko; Rico Chandra Ardy; Kaan Boztug
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

Review 6.  Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease.

Authors:  Jodie Deborah Ouahed
Journal:  Front Immunol       Date:  2022-09-29       Impact factor: 8.786

Review 7.  Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.

Authors:  Jodie Ouahed; Elizabeth Spencer; Daniel Kotlarz; Dror S Shouval; Matthew Kowalik; Kaiyue Peng; Michael Field; Leslie Grushkin-Lerner; Sung-Yun Pai; Athos Bousvaros; Judy Cho; Carmen Argmann; Eric Schadt; Dermot P B Mcgovern; Michal Mokry; Edward Nieuwenhuis; Hans Clevers; Fiona Powrie; Holm Uhlig; Christoph Klein; Aleixo Muise; Marla Dubinsky; Scott B Snapper
Journal:  Inflamm Bowel Dis       Date:  2020-05-12       Impact factor: 5.325

Review 8.  The diagnostic approach to monogenic very early onset inflammatory bowel disease.

Authors:  Holm H Uhlig; Tobias Schwerd; Sibylle Koletzko; Neil Shah; Jochen Kammermeier; Abdul Elkadri; Jodie Ouahed; David C Wilson; Simon P Travis; Dan Turner; Christoph Klein; Scott B Snapper; Aleixo M Muise
Journal:  Gastroenterology       Date:  2014-07-21       Impact factor: 33.883
  8 in total

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