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Literature DB >> 25745186

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

Stavroula Woutsas¹, Caner Aytekin², Elisabeth Salzer¹, Cecilia Domínguez Conde¹, Sema Apaydin³, Herbert Pichler⁴, Nima Memaran-Dadgar⁵, Ferda Ozbay Hosnut⁶, Elisabeth Förster-Waldl⁷, Susanne Matthes⁸, Wolf-Dietrich Huber⁵, Thomas Lion⁷, Wolfgang Holter⁸, Ivan Bilic¹, Kaan Boztug⁹.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2015 PMID： 25745186 PMCID： PMC4375718 DOI： 10.1182/blood-2014-08-595397

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

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11 in total

Review 1. Maintaining the norm: T-cell homeostasis.

Authors: Stephen C Jameson
Journal: Nat Rev Immunol Date: 2002-08 Impact factor: 53.106

2. 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

Review 3. Phospholipids: "greasing the wheels" of humoral immunity.

Authors: Joseph W Brewer
Journal: Biochim Biophys Acta Date: 2012-10-07

Review 4. Combined immunodeficiencies with nonfunctional T lymphocytes.

Authors: Luigi D Notarangelo
Journal: Adv Immunol Date: 2014 Impact factor: 3.543

5. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

Authors: Klaus Warnatz; Ulrich Salzer; Marta Rizzi; Beate Fischer; Sylvia Gutenberger; Joachim Böhm; Anne-Kathrin Kienzler; Qiang Pan-Hammarström; Lennart Hammarström; Mirzokhid Rakhmanov; Michael Schlesier; Bodo Grimbacher; Hans-Hartmut Peter; Hermann Eibel
Journal: Proc Natl Acad Sci U S A Date: 2009-08-06 Impact factor: 11.205

6. 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

7. PI3 kinase signals BCR-dependent mature B cell survival.

Authors: Lakshmi Srinivasan; Yoshiteru Sasaki; Dinis Pedro Calado; Baochun Zhang; Ji Hye Paik; Ronald A DePinho; Jeffrey L Kutok; John F Kearney; Kevin L Otipoby; Klaus Rajewsky
Journal: Cell Date: 2009-10-30 Impact factor: 41.582

8. 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

9. 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

10. 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

11 in total

1. 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

2. 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

Review 3. Exome and genome sequencing for inborn errors of immunity.

Authors: Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal: J Allergy Clin Immunol Date: 2016-10 Impact factor: 10.793

4. Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.

Authors: Reyin Lien; Yung-Feng Lin; Min-Wei Lai; Hui-Ying Weng; Ren-Chin Wu; Tang-Her Jaing; Jing-Long Huang; Shih-Feng Tsai; Wen-I Lee
Journal: Front Immunol Date: 2017-09-07 Impact factor: 7.561

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. 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. A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.

Authors: Wenjun Mou; Shen Yang; Ruolan Guo; Libing Fu; Li Zhang; Weihong Guo; Jingbin Du; Jianxin He; Qinghua Ren; Chanjuan Hao; Jingang Gui; Jinshi Huang
Journal: Front Immunol Date: 2021-12-15 Impact factor: 7.561

9. Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

Authors: Marie-Therese El-Daher; Nicolas Cagnard; Marine Gil; Marie Chansel Da Cruz; Claire Leveau; Fernando Sepulveda; Mohammed Zarhrate; Frédéric Tores; Patricia Legoix; Sylvain Baulande; Jean Pierre de Villartay; Geneviève Almouzni; Jean-Pierre Quivy; Alain Fischer; Geneviève de Saint Basile
Journal: Cell Discov Date: 2018-11-13 Impact factor: 10.849

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