Literature DB >> 31342292

Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

Jessica R Saunders1, Anna Lehman2, Stuart E Turvey3, Jie Pan4, Evica Rajcan-Separovic5, Aleixo M Muise4,6, Jonathan W Bush7.   

Abstract

Entities:  

Keywords:  Multiple intestinal atresia; TTC7A; VEOIBD; combined immunodeficiency

Mesh：

Substances：

Year:  2019        PMID： 31342292     DOI： 10.1007/s10875-019-00669-6

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


× No keyword cloud information.
  9 in total

1.  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

2.  Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.

Authors:  Jochen Kammermeier; Giovanna Lucchini; Sung-Yun Pai; Austen Worth; Dyanne Rampling; Persis Amrolia; Juliana Silva; Robert Chiesa; Kanchan Rao; Gabriele Noble-Jamieson; Marco Gasparetto; Drew Ellershaw; Holm Uhlig; Neil Sebire; Mamoun Elawad; Luigi Notarangelo; Neil Shah; Paul Veys
Journal:  Blood       Date:  2016-07-14       Impact factor: 22.113

3.  Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Authors:  Yaron Avitzur; Conghui Guo; Lucas A Mastropaolo; Ehsan Bahrami; Hannah Chen; Zhen Zhao; Abdul Elkadri; Sandeep Dhillon; Ryan Murchie; Ramzi Fattouh; Hien Huynh; Jennifer L Walker; Paul W Wales; Ernest Cutz; Yoichi Kakuta; Joel Dudley; Jochen Kammermeier; Fiona Powrie; Neil Shah; Christoph Walz; Michaela Nathrath; Daniel Kotlarz; Jacek Puchaka; Jonathan R Krieger; Tomas Racek; Thomas Kirchner; Thomas D Walters; John H Brumell; Anne M Griffiths; Nima Rezaei; Parisa Rashtian; Mehri Najafi; Maryam Monajemzadeh; Stephen Pelsue; Dermot P B McGovern; Holm H Uhlig; Eric Schadt; Christoph Klein; Scott B Snapper; Aleixo M Muise
Journal:  Gastroenterology       Date:  2014-01-11       Impact factor: 22.682

4.  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

5.  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

6.  Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Authors:  Rui Chen; Silvia Giliani; Gaetana Lanzi; George I Mias; Silvia Lonardi; Kerry Dobbs; John Manis; Hogune Im; Jennifer E Gallagher; Douglas H Phanstiel; Ghia Euskirchen; Philippe Lacroute; Keith Bettinger; Daniele Moratto; Katja Weinacht; Davide Montin; Eleonora Gallo; Giovanna Mangili; Fulvio Porta; Lucia D Notarangelo; Stefania Pedretti; Waleed Al-Herz; Wasmi Alfahdli; Anne Marie Comeau; Russell S Traister; Sung-Yun Pai; Graziella Carella; Fabio Facchetti; Kari C Nadeau; Michael Snyder; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-07-04       Impact factor: 14.290

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.  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

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
  9 in total
  3 in total

1.  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

2.  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

3.  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
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.