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3 results on '"Ali Alisaac"'

1. Topoisomerase 2β mutation impairs early B-cell development

Author

Klaus Okkenhaug, Olivier Hermine, Ali Alisaac, Sven Kracker, Mailis Maes, Siobhan O. Burns, Anne Durandy, Eugenie Basseres, Adriana S. Albuquerque, Alain Fischer, Davide Eletto, Sarah Inglott, Olivier Papapietro, Anita Chandra, James Curtis, Vincent Plagnol, Capucine Picard, Sergey Nejentsev, Delphine Cuchet-Lourenço, Molecular cell biology and Immunology, and AII - Inflammatory diseases

Subjects
Male, Immunology, Biochemistry, Article, medicine, Humans, Poly-ADP-Ribose Binding Proteins, B cell, B-Lymphocytes, biology, Topoisomerase, Immunologic Deficiency Syndromes, Cell Biology, Hematology, Prognosis, Phenotype, Hematopoiesis, Pedigree, Haematopoiesis, DNA Topoisomerases, Type II, medicine.anatomical_structure, Mutation, Mutation (genetic algorithm), Cancer research, biology.protein, Female
Published
2020

2. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis and intestinal inflammation

Author

Scott Hackett, Daniela Siegmund, Sergey Nejentsev, Delphine Cuchet-Lourenço, Changxin Wu, Emma Goss, Harald Wajant, Chris M. Bacon, Miguel B. Gaspar, Mofareh AlZahrani, Peter D. Arkwright, Ali Alisaac, Rainer Doffinger, Olivier Papapietro, Lourdes Ceron-Gutierrez, Davide Eletto, Dinakantha S. Kumararatne, Vincent Plagnol, Eman AlIdrissi, Badr AlSaleem, Mario Abinun, Mailis Maes, James Curtis, Cuchet-Lourenço, Delphine [0000-0002-9501-6122], Eletto, Davide [0000-0002-2650-1968], Plagnol, Vincent [0000-0002-5597-9215], Papapietro, Olivier [0000-0001-5072-5235], Bacon, Chris M [0000-0002-8268-2812], Alsaleem, Badr [0000-0003-3348-4550], Maes, Mailis [0000-0002-0266-6557], Alisaac, Ali [0000-0003-1463-4488], Goss, Emma [0000-0002-5277-4249], AlIdrissi, Eman [0000-0003-2462-3571], Wajant, Harald [0000-0002-2005-3949], Kumararatne, Dinakantha [0000-0001-8438-4686], Arkwright, Peter D [0000-0002-7411-5375], Abinun, Mario [0000-0002-7050-3565], Doffinger, Rainer [0000-0002-9841-3617], Nejentsev, Sergey [0000-0002-7528-4461], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Male, Severe Combined Immunodeficiency/genetics, Necroptosis, medicine.medical_treatment, Arthritis, Inflammation, 03 medical and health sciences, RIPK1, Immune system, Lymphopenia, Lymphopenia/genetics, medicine, Humans, Immunodeficiency, Alleles, Fibroblasts/metabolism, Inflammatory Bowel Diseases/genetics, Multidisciplinary, business.industry, Cytokines/metabolism, Fibroblasts, Receptor-Interacting Protein Serine-Threonine Kinases/genetics, Inflammatory Bowel Diseases, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Cytokine, Receptor-Interacting Protein Serine-Threonine Kinases, Immunology, Cytokines, Severe Combined Immunodeficiency, Cytokine secretion, Female, Arthritis/genetics, Mitogen-Activated Protein Kinases, medicine.symptom, business, Mitogen-Activated Protein Kinases/metabolism
Abstract

Humans as models of human disease Mice are a convenient model for exploring the functions of cellular signaling pathways. Occasionally, however, an “experiment of nature” highlights the perils of overreliance on mice. RIPK1 is a well studied protein kinase that regulates cell death. Mice deficient in RIPK1 die soon after birth because of the protein's widespread role in multiple tissues and organs. Cuchet-Lourenço et al. studied patients with inherited immunodeficiency of unknown cause (see the Perspective by Pasparakis and Kelliher). They identified inactivating mutations in the RIPK1 gene in four individuals. Unlike what has been seen in mice, the deleterious effects of RIPK1 loss in humans were confined to the immune system, a finding with potential therapeutic implications. Science , this issue p. 810 ; see also p. 756

Published
2018

3. Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

Author

Helen L. Zenner, Mailis Maes, Ali Alisaac, Liliya Kopanitsa, Yanina Balabanova, Peter Nürnberg, Yang Luo, Thorsten Thye, Vladyslav Nikolayevskyy, Changxin Wu, Jeffrey C. Barrett, Jimmy Z. Liu, James Curtis, Kitty Lo, Vincent Plagnol, Sergey Nejentsev, Delphine Cuchet-Lourenço, Emma Stebbings, Francis Drobniewski, Olga Ignatyeva, Christian Meyer, Rolf D. Horstmann, and Ingelore Baessmann

Subjects
EXPRESSION, Adult, Male, medicine.medical_specialty, ARF GAPS, Tuberculosis, Gene Expression, Genome-wide association study, Biology, GENOTYPE IMPUTATION, Polymorphism, Single Nucleotide, Article, Mycobacterium tuberculosis, Cell Movement, Molecular genetics, Gene expression, Genetics, medicine, IMMUNE-RESPONSE, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Allele, Dendritic cell migration, Tuberculosis, Pulmonary, Gene, 11 Medical and Health Sciences, Cells, Cultured, Adaptor Proteins, Signal Transducing, Genetics & Heredity, ARCHITECTURE, Science & Technology, Dendritic Cells, 06 Biological Sciences, Middle Aged, biology.organism_classification, medicine.disease, Introns, 3. Good health, Protein Transport, Case-Control Studies, Immunology, Female, Life Sciences & Biomedicine, Developmental Biology, Genome-Wide Association Study
Abstract

Human genetic factors predispose to tuberculosis (TB). We studied 7.6 million genetic variants in 5,530 people with pulmonary TB and in 5,607 healthy controls. In the combined analysis of these subjects and the follow-up cohort (15,087 TB patients and controls altogether), we found an association between TB and variants located in introns of the ASAP1 gene on chromosome 8q24 (P = 2.6 × 10(-11) for rs4733781; P = 1.0 × 10(-10) for rs10956514). Dendritic cells (DCs) showed high ASAP1 expression that was reduced after Mycobacterium tuberculosis infection, and rs10956514 was associated with the level of reduction of ASAP1 expression. The ASAP1 protein is involved in actin and membrane remodeling and has been associated with podosomes. The ASAP1-depleted DCs showed impaired matrix degradation and migration. Therefore, genetically determined excessive reduction of ASAP1 expression in M. tuberculosis-infected DCs may lead to their impaired migration, suggesting a potential mechanism of predisposition to TB.

Published
2015

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