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The Crohn's disease-associated polymorphism in ATG16L1 (rs2241880) reduces SHIP gene expression and activity in human subjects.

Autor: Ngoh EN; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Brugger HK; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Monajemi M; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Menzies SC; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Hirschfeld AF; Division of Allergy and Immunology, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Del Bel KL; Division of Allergy and Immunology, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Jacobson K; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Lavoie PM; Division of Neonatology, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Turvey SE; Division of Allergy and Immunology, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada., Sly LM; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, BC Children's Hospital, Child and Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.

Publikováno v: Genes and immunity [Genes Immun] 2015 Oct; Vol. 16 (7), pp. 452-61. Date of Electronic Publication: 2015 Jul 30.

Combined immunodeficiency associated with homozygous MALT1 mutations.

Autor: McKinnon ML; Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Rozmus J; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Fung SY; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Hirschfeld AF; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Del Bel KL; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Thomas L; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Marr N; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Martin SD; Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada., Marwaha AK; Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Priatel JJ; Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Tan R; Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Senger C; Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Tsang A; Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Prendiville J; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Junker AK; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Seear M; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Schultz KR; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Sly LM; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Holt RA; Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada., Patel MS; Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Friedman JM; Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Turvey SE; Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: sturvey@cw.bc.ca.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2014 May; Vol. 133 (5), pp. 1458-62, 1462.e1-7. Date of Electronic Publication: 2013 Dec 12.

Neonatal pain-related stress and NFKBIA genotype are associated with altered cortisol levels in preterm boys at school age.

Autor: Grunau RE; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada ; Developmental Neurosciences and Child Health, Child & Family Research Institute, Vancouver, BC, Canada., Cepeda IL, Chau CM, Brummelte S, Weinberg J, Lavoie PM, Ladd M, Hirschfeld AF, Russell E, Koren G, Van Uum S, Brant R, Turvey SE

Publikováno v: PloS one [PLoS One] 2013 Sep 16; Vol. 8 (9), pp. e73926. Date of Electronic Publication: 2013 Sep 16 (Print Publication: 2013).

Atypical activation of the unfolded protein response in cystic fibrosis airway cells contributes to p38 MAPK-mediated innate immune responses.

Autor: Blohmke CJ; Department of Paediatrics, BC Children's Hospital and Child & Family Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4., Mayer ML, Tang AC, Hirschfeld AF, Fjell CD, Sze MA, Falsafi R, Wang S, Hsu K, Chilvers MA, Hogg JC, Hancock RE, Turvey SE

Publikováno v: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2012 Dec 01; Vol. 189 (11), pp. 5467-75. Date of Electronic Publication: 2012 Oct 26.