Search Results - "NEJENTSEV, Sergey"

Reevaluation of SNP heritability in complex human traits by Speed, Doug, Cai, Na, Johnson, Michael R, Nejentsev, Sergey, Balding, David J

“…By analyzing imputed genetic data for 42 human traits, Doug Speed and colleagues derive a model that describes how heritability varies with minor allele…”
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Topoisomerase 2β and DNA topology during B cell development by Papapietro, Olivier, Nejentsev, Sergey

“…Topoisomerase 2β (TOP2B) introduces transient double strand breaks in the DNA helix to remove supercoiling structures and unwind entangled DNA strains…”
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Evolution and transmission of drug-resistant tuberculosis in a Russian population by Casali, Nicola, Nikolayevskyy, Vladyslav, Balabanova, Yanina, Harris, Simon R, Ignatyeva, Olga, Kontsevaya, Irina, Corander, Jukka, Bryant, Josephine, Parkhill, Julian, Nejentsev, Sergey, Horstmann, Rolf D, Brown, Timothy, Drobniewski, Francis

“…Francis Drobniewski and colleagues report the whole-genome sequencing of 1,000 Mycobacterium tuberculosis strains obtained prospectively from patients over a…”
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Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation by Cuchet-Lourenço, Delphine, Eletto, Davide, Wu, Changxin, Plagnol, Vincent, Papapietro, Olivier, Curtis, James, Ceron-Gutierrez, Lourdes, Bacon, Chris M, Hackett, Scott, Alsaleem, Badr, Maes, Mailis, Gaspar, Miguel, Alisaac, Ali, Goss, Emma, AlIdrissi, Eman, Siegmund, Daniela, Wajant, Harald, Kumararatne, Dinakantha, AlZahrani, Mofareh S, Arkwright, Peter D, Abinun, Mario, Doffinger, Rainer, Nejentsev, Sergey

“…RIPK1 (receptor-interacting serine/threonine kinase 1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical…”
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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling by PLAGNOL, Vincent, CURTIS, James, KUMARARATNE, Dinakantha, DOFFINGER, Rainer, NEJENTSEV, Sergey, EPSTEIN, Michael, MOK, Kin Y, STEBBINGS, Emma, GRIGORIADOU, Sofia, WOOD, Nicholas W, HAMBLETON, Sophie, BURNS, Siobhan O, THRASHER, Adrian J

“…Exome sequencing has proven to be an effective tool to discover the genetic basis of Mendelian disorders. It is well established that copy number variants…”
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Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection by Eletto, Davide, Burns, Siobhan O., Angulo, Ivan, Plagnol, Vincent, Gilmour, Kimberly C., Henriquez, Frances, Curtis, James, Gaspar, Miguel, Nowak, Karolin, Daza-Cajigal, Vanessa, Kumararatne, Dinakantha, Doffinger, Rainer, Thrasher, Adrian J., Nejentsev, Sergey

“…Mutations in genes encoding components of the immune system cause primary immunodeficiencies. Here, we study a patient with recurrent atypical mycobacterial…”
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Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy by Michalovich, David, Nejentsev, Sergey

“…Activated PI3 kinase delta syndrome (APDS) is a primary immunodeficiency caused by dominant mutations that increase activity of phosphoinositide-3-kinase δ…”
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Microevolution of extensively drug-resistant tuberculosis in Russia by Casali, Nicola, Nikolayevskyy, Vladyslav, Balabanova, Yanina, Ignatyeva, Olga, Kontsevaya, Irina, Harris, Simon R, Bentley, Stephen D, Parkhill, Julian, Nejentsev, Sergey, Hoffner, Sven E, Horstmann, Rolf D, Brown, Timothy, Drobniewski, Francis

“…Extensively drug-resistant (XDR) tuberculosis (TB), which is resistant to both first- and second-line antibiotics, is an escalating problem, particularly in…”
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PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner by Stark, Anne-Katrien, Chandra, Anita, Chakraborty, Krishnendu, Alam, Rafeah, Carbonaro, Valentina, Clark, Jonathan, Sriskantharajah, Srividya, Bradley, Glyn, Richter, Alex G., Banham-Hall, Edward, Clatworthy, Menna R., Nejentsev, Sergey, Hamblin, J. Nicole, Hessel, Edith M., Condliffe, Alison M., Okkenhaug, Klaus

“…Streptococcus pneumoniae is a major cause of pneumonia and a leading cause of death world-wide. Antibody-mediated immune responses can confer protection…”
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Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians by Luo, Yang, Suliman, Sara, Asgari, Samira, Amariuta, Tiffany, Baglaenko, Yuriy, Martínez-Bonet, Marta, Ishigaki, Kazuyoshi, Gutierrez-Arcelus, Maria, Calderon, Roger, Lecca, Leonid, León, Segundo R., Jimenez, Judith, Yataco, Rosa, Contreras, Carmen, Galea, Jerome T., Becerra, Mercedes, Nejentsev, Sergey, Nigrovic, Peter A., Moody, D. Branch, Murray, Megan B., Raychaudhuri, Soumya

“…Of the 1.8 billion people worldwide infected with Mycobacterium tuberculosis , 5–15% will develop active tuberculosis (TB). Approximately half will progress to…”
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Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa by Neves, João Farela, Doffinger, Rainer, Barcena-Morales, Gabriela, Martins, Catarina, Papapietro, Olivier, Plagnol, Vincent, Curtis, James, Martins, Marta, Kumararatne, Dinakantha, Cordeiro, Ana Isabel, Neves, Conceição, Borrego, Luis Miguel, Katan, Matilda, Nejentsev, Sergey

“…The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary…”
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LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia by Burns, Siobhan O., MD, PhD, Zenner, Helen L., PhD, Plagnol, Vincent, PhD, Curtis, James, BSc, Mok, Kin, MBBS, MSc, Eisenhut, Michael, MD, Kumararatne, Dinakantha, MD, Doffinger, Rainer, PhD, Thrasher, Adrian J., MD, PhD, Nejentsev, Sergey, MD, PhD

“…[...]she received several courses of steroids, rituximab (with prophylactic immunoglobulin replacement), and mycophenolate mofetil. Because of further chest…”
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Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome by Kracker, Sven, PhD, Curtis, James, BSc, Ibrahim, Mohammad A.A., MBBCh, MSc, PhD, FRCPath, FRCP, Sediva, Anna, MD, PhD, Salisbury, Jon, BSc, MD, FRCPath, Campr, Vit, MD, Debré, Marianne, MD, Edgar, J. David M., BSc, FRCP, FRCPath, Imai, Kohsuke, MD, PhD, Picard, Capucine, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Fischer, Alain, MD, PhD, Nejentsev, Sergey, MD, PhD, Durandy, Anne, MD, PhD

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Down-regulation of NKG2D and NKp80 ligands by Kaposi's sarcoma-associated herpesvirus K5 protects against NK cell cytotoxicity by Thomas, Mair, Boname, Jessica M, Field, Sarah, Nejentsev, Sergey, Salio, Mariolina, Cerundolo, Vincenzo, Wills, Mark, Lehner, Paul J

“…Natural killer (NK) cells are important early mediators of host immunity to viral infections. The NK activatory receptors NKG2D and NKp80, both C-type…”
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Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis by Davila, Sonia, Hibberd, Martin L, Hari Dass, Ranjeeta, Wong, Hazel E E, Sahiratmadja, Edhyana, Bonnard, Carine, Alisjahbana, Bachti, Szeszko, Jeffrey S, Balabanova, Yanina, Drobniewski, Francis, van Crevel, Reinout, van de Vosse, Esther, Nejentsev, Sergey, Ottenhoff, Tom H M, Seielstad, Mark

“…Despite high rates of exposure, only 5-10% of people infected with Mycobacterium tuberculosis will develop active tuberculosis (TB) disease, suggesting a…”
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A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians by Png, Eileen, Alisjahbana, Bachti, Sahiratmadja, Edhyana, Marzuki, Sangkot, Nelwan, Ron, Balabanova, Yanina, Nikolayevskyy, Vladyslav, Drobniewski, Francis, Nejentsev, Sergey, Adnan, Iskandar, van de Vosse, Esther, Hibberd, Martin L, van Crevel, Reinout, Ottenhoff, Tom H M, Seielstad, Mark

“…There is reason to expect strong genetic influences on the risk of developing active pulmonary tuberculosis (TB) among latently infected individuals. Many of…”
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Association of the Vitamin D Metabolism Gene CYP27B1 With Type 1 Diabetes by BAILEY, Rebecca, COOPER, Jason D, NEJENTSEV, Sergey, TODD, John A, ZEITELS, Lauren, SMYTH, Deborah J, YANG, Jennie H. M, WALKER, Neil M, HYPPÖNEN, Elina, DUNGER, David B, RAMOS-LOPEZ, Elizabeth, BADENHOOP, Klaus

“…Association of the Vitamin D Metabolism Gene CYP27B1 With Type 1 Diabetes Rebecca Bailey 1 , Jason D. Cooper 1 , Lauren Zeitels 1 , Deborah J. Smyth 1 , Jennie…”
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Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ ( IL2RG ) gene promoter by Chandra, Anita, MRCP, FRCPath, PhD, Zhang, Fang, PhD, Gilmour, Kimberly C., FRCPath, PhD, Webster, David, FRCPath, Plagnol, Vincent, PhD, Kumararatne, Dinakantha S., FRCPath, DPhil, Burns, Siobhan O., MB, PhD, MRCPI(Paeds), Nejentsev, Sergey, MD, PhD, Thrasher, Adrian J., MRCP, PhD

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Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ by Burns, Siobhan O., MD, PhD, Plagnol, Vincent, PhD, Gutierrez, Beatriz Morillo, MD, Al Zahrani, Daifulah, MD, Curtis, James, BSc, Gaspar, Miguel, PhD, Hassan, Amel, MD, Jones, Alison M., MD, Malone, Marian, MD, Rampling, Dyanne, FIBMS, McLatchie, Alex, BSc, Doffinger, Rainer, PhD, Gilmour, Kimberly C., PhD, Henriquez, Frances, MSc, Thrasher, Adrian J., MD, PhD, Gaspar, H. Bobby, MD, PhD, Nejentsev, Sergey, MD, PhD

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Comprehensive Association Analysis of the Vitamin D Pathway Genes, VDR, CYP27B1, and CYP24A1, in Prostate Cancer by HOLICK, Crystal N, STANFORD, Janet L, KWON, Erika M, OSTRANDER, Elaine A, NEJENTSEV, Sergey, PETERS, Ulrike

“…Genetic variation in vitamin D–related genes has not been investigated comprehensively and findings are equivocal. We studied the association between…”
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