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

Gastroenterology

Volumn 146, Issue 4, 2014, Pages 1028-1039

  Avitzur, Yaron ^a,b   Guo, Conghui ^b   Mastropaolo, Lucas A ^b   Bahrami, Ehsan ^c   Chen, Hannah ^d   Zhao, Zhen ^b   Elkadri, Abdul ^a,b,e   Dhillon, Sandeep ^b   Murchie, Ryan ^b   Fattouh, Ramzi ^b   Huynh, Hien ^f   Walker, Jennifer L ^g   Wales, Paul W ^a   Cutz, Ernest ^a   Kakuta, Yoichi ^h   Dudley, Joel ⁱ   Kammermeier, Jochen ^j   Powrie, Fiona ^k   Shah, Neil ^j   Walz, Christoph ^l   Nathrath, Michaela ^m   Kotlarz, Daniel ^c   Puchaka, Jacek ^c   Krieger, Jonathan R ^b   Racek, Tomas ^c   Kirchner, Thomas ^l   Walters, Thomas D ^a,b   Brumell, John H ^a,b,e   Griffiths, Anne M ^a,b   Rezaei, Nima ^n,o   Rashtian, Parisa ⁿ   Najafi, Mehri ⁿ   Monajemzadeh, Maryam ⁿ   Pelsue, Stephen ^g   McGovern, Dermot P B ^h   Uhlig, Holm H ^d   Schadt, Eric ⁱ   Klein, Christoph ^c   Snapper, Scott B ^p,q   Muise, Aleixo M ^a,b,e   more..

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF TORONTO   (Canada)

^f STOLLERY CHILDREN S HOSPITAL   (Canada)

^g UNIVERSITY OF SOUTHERN MAINE   (United States)

^h CEDARS SINAI MEDICAL CENTER   (United States)

ⁱ MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l UNIVERSITY OF MUNICH   (Germany)

^m INSTITUTE OF EPIDEMIOLOGY   (Germany)

ⁿ TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^o TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^p BOSTON CHILDREN S HOSPITAL   (United States)

^q BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

Autoimmunity; IBD; Intestinal Atresia; Intestine

Indexed keywords

PHOSPHATIDYLINOSITOL KINASE; TETRATRICOPEPTIDE REPEAT DOMAIN 7A; TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; CELL ADHESION; CELL MEMBRANE; CLINICAL ARTICLE; CONTROLLED STUDY; ENTEROCOLITIS; ENZYME SYNTHESIS; EXOME; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; INFLAMMATORY BOWEL DISEASE; INTESTINE CELL; MALE; PRIORITY JOURNAL; VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE;

AUTOIMMUNITY; IBD; INTESTINAL ATRESIA; INTESTINE;

1-PHOSPHATIDYLINOSITOL 4-KINASE; AGE OF ONSET; APOPTOSIS; CELL ADHESION; CELL LINE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENTEROCOLITIS; ENTEROCYTES; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFLAMMATORY BOWEL DISEASES; INTESTINAL ATRESIA; LYMPHOCYTES; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS; PROTEIN BINDING; PROTEINS; RNA INTERFERENCE; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; TRANSFECTION;

EID: 84896492362     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.01.015     Document Type: Article

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