Literature DB >> 28808844

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

Dylan Lawless1, Anoop Mistry2, Philip M Wood2, Jens Stahlschmidt3, Gururaj Arumugakani2, Mark Hull1, David Parry4, Rashida Anwar1, Clive Carter2, Sinisa Savic5,6,7.   

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Year:  2017        PMID： 28808844     DOI： 10.1007/s10875-017-0427-1

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  13 in total

Review 1.  Multiple intestinal atresia with combined immune deficiency.

Authors:  Luigi D Notarangelo
Journal:  Curr Opin Pediatr       Date:  2014-12       Impact factor: 2.856

2.  Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Authors:  S Leclerc-Mercier; R Lemoine; A E Bigorgne; F Sepulveda; C Leveau; A Fischer; N Mahlaoui; S Hadj-Rabia; G de Saint Basile
Journal:  Br J Dermatol       Date:  2016-08-31       Impact factor: 9.302

3.  Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

Authors:  W Yang; P P W Lee; M-K Thong; T M Ramanujam; A Shanmugam; M-T Koh; K-W Chan; D Ying; Y Wang; J J Shen; J Yang; Y L Lau
Journal:  Clin Genet       Date:  2015-01-23       Impact factor: 4.438

4.  Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

Authors:  Niti Sardana Agarwal; Lesley Northrop; Kwame Anyane-Yeboa; Vimla S Aggarwal; Peter L Nagy; Yesim Yilmaz Demirdag
Journal:  J Clin Immunol       Date:  2014-06-17       Impact factor: 8.317

5.  Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.

Authors:  Roxane Lemoine; Jana Pachlopnik-Schmid; Henner F Farin; Amélie Bigorgne; Marianne Debré; Fernando Sepulveda; Sébastien Héritier; Julie Lemale; Cécile Talbotec; Frédéric Rieux-Laucat; Frank Ruemmele; Alain Morali; Pascal Cathebras; Patrick Nitschke; Christine Bole-Feysot; Stéphane Blanche; Nicole Brousse; Capucine Picard; Hans Clevers; Alain Fischer; Geneviève de Saint Basile
Journal:  J Allergy Clin Immunol       Date:  2014-08-28       Impact factor: 10.793

6.  Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

Authors:  Isabel Fernandez; Natalie Patey; Valérie Marchand; Mirela Birlea; Bruno Maranda; Elie Haddad; Hélène Decaluwe; Françoise Le Deist
Journal:  Medicine (Baltimore)       Date:  2014-12       Impact factor: 1.889

7.  TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

Authors:  Amélie E Bigorgne; Henner F Farin; Roxane Lemoine; Nizar Mahlaoui; Nathalie Lambert; Marine Gil; Ansgar Schulz; Pierre Philippet; Patrick Schlesser; Tore G Abrahamsen; Knut Oymar; E Graham Davies; Christian Lycke Ellingsen; Emmanuelle Leteurtre; Brigitte Moreau-Massart; Dominique Berrebi; Christine Bole-Feysot; Patrick Nischke; Nicole Brousse; Alain Fischer; Hans Clevers; Geneviève de Saint Basile
Journal:  J Clin Invest       Date:  2014-01       Impact factor: 14.808

8.  Evaluation of phosphatidylinositol-4-kinase IIIα as a hepatitis C virus drug target.

Authors:  Frédéric H Vaillancourt; Martine Brault; Louise Pilote; Nathalie Uyttersprot; Elias T Gaillard; James H Stoltz; Brian L Knight; Lynn Pantages; Mary McFarland; Steffen Breitfelder; Tim T Chiu; Louiza Mahrouche; Anne-Marie Faucher; Mireille Cartier; Michael G Cordingley; Richard C Bethell; Huiping Jiang; Peter W White; George Kukolj
Journal:  J Virol       Date:  2012-08-15       Impact factor: 5.103

9.  Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Authors:  Mark E Samuels; Jacek Majewski; Najmeh Alirezaie; Isabel Fernandez; Ferran Casals; Natalie Patey; Hélène Decaluwe; Isabelle Gosselin; Elie Haddad; Alan Hodgkinson; Youssef Idaghdour; Valerie Marchand; Jacques L Michaud; Marc-André Rodrigue; Sylvie Desjardins; Stéphane Dubois; Francoise Le Deist; Philip Awadalla; Vincent Raymond; Bruno Maranda
Journal:  J Med Genet       Date:  2013-02-19       Impact factor: 6.318

10.  The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.

Authors:  Jeremy M Baskin; Xudong Wu; Romain Christiano; Michael S Oh; Curtis M Schauder; Elisabetta Gazzerro; Mirko Messa; Simona Baldassari; Stefania Assereto; Roberta Biancheri; Federico Zara; Carlo Minetti; Andrea Raimondi; Mikael Simons; Tobias C Walther; Karin M Reinisch; Pietro De Camilli
Journal:  Nat Cell Biol       Date:  2015-11-16       Impact factor: 28.824
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  10 in total

Review 1.  Genomic and Immunologic Drivers of Very Early-Onset Inflammatory Bowel Disease.

Authors:  Maire A Conrad; Judith R Kelsen
Journal:  Pediatr Dev Pathol       Date:  2019-03-06

2.  Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants.

Authors:  Yun-E Chen; Jingfang Chen; Wenxing Guo; Yanhong Zhang; Jialing Li; Hui Xie; Tong Shen; Yunsheng Ge; Yanru Huang; Wenying Zheng; Mei Lu
Journal:  Front Genet       Date:  2022-06-16       Impact factor: 4.772

3.  Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.

Authors:  Katelyn Dannheim; Jodie Ouahed; Michael Field; Scott Snapper; Bram P Raphael; Sarah C Glover; Phyllis R Bishop; Natalie Bhesania; Daniel Kamin; Jay Thiagarajah; Jeffrey D Goldsmith
Journal:  Am J Surg Pathol       Date:  2022-01-05       Impact factor: 6.298

4.  Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Authors:  Claire G Salter; Yiying Cai; Bernice Lo; Guy Helman; Henry Taylor; Amber McCartney; Joseph S Leslie; Andrea Accogli; Federico Zara; Monica Traverso; James Fasham; Joshua A Lees; Matteo P Ferla; Barry A Chioza; Olivia Wenger; Ethan Scott; Harold E Cross; Joanna Crawford; Ilka Warshawsky; Matthew Keisling; Dimitris Agamanolis; Catherine Ward Melver; Helen Cox; Mamoun Elawad; Tamas Marton; Matthew N Wakeling; Dirk Holzinger; Stephan Tippelt; Martin Munteanu; Deyana Valcheva; Christin Deal; Sara Van Meerbeke; Catherine Walsh Vockley; Manish J Butte; Utkucan Acar; Marjo S van der Knaap; G Christoph Korenke; Urania Kotzaeridou; Tamas Balla; Cas Simons; Holm H Uhlig; Andrew H Crosby; Pietro De Camilli; Nicole I Wolf; Emma L Baple
Journal:  Brain       Date:  2021-12-31       Impact factor: 15.255

5.  TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.

Authors:  James J Ashton; Enrico Mossotto; R Mark Beattie; Sarah Ennis
Journal:  J Clin Immunol       Date:  2019-12-09       Impact factor: 8.542

Review 6.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

Review 7.  TTC7A: Steward of Intestinal Health.

Authors:  Sasha Jardine; Neel Dhingani; Aleixo M Muise
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2018-12-13

8.  Gene expression pattern analysis using dual-color RT-MLPA and integrative genome-wide association studies of eQTL for tuberculosis suscepitibility.

Authors:  Jing-Wen Ai; Hanyue Zhang; Zumo Zhou; Shanshan Weng; Heqing Huang; Sen Wang; Lingyun Shao; Yan Gao; Jing Wu; Qiaoling Ruan; Feifei Wang; Ning Jiang; Jiazhen Chen; Wenhong Zhang
Journal:  Respir Res       Date:  2021-01-20

9.  Novel mechanisms underlying inhibition of inflammation-induced angiogenesis by dexamethasone and gentamicin via PI3K/AKT/NF-κB/VEGF pathways in acute radiation proctitis.

Authors:  Yousong Li; Qin Ding; Jinsheng Gao; Chunxia Li; Pengxiao Hou; Jie Xu; Kaiqi Cao; Min Hu; Lin Cheng; Xixing Wang; Xiaoling Yang
Journal:  Sci Rep       Date:  2022-08-18       Impact factor: 4.996

10.  The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.

Authors:  Neel Dhingani; Conghui Guo; Jie Pan; Qi Li; Neil Warner; Sasha Jardine; Gabriella Leung; Daniel Kotlarz; Claudia Gonzaga-Jauregui; Christoph Klein; Scott B Snapper; Víctor Manuel Navas-López; Aleixo M Muise
Journal:  Sci Rep       Date:  2020-10-29       Impact factor: 4.379
  10 in total

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