Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: TPSAB1[original query] |
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Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. The Journal of allergy and clinical immunology 2009 Nov 124 (5): 1099-105.e1-4. Trivedi Neil N, Tamraz Bani, Chu Catherine, Kwok Pui-Yan, Caughey George |
Alpha tryptase allele of Tryptase 1 (TPSAB1) gene associated with Dengue Hemorrhagic Fever (DHF) and Dengue Shock Syndrome (DSS) in Vietnam and Philippines. Human immunology 2015 May 76 (5): 318-23. Velasquez Clara Vasquez, Roman Arthur Dessi, Lan Nguyen Thi Phuong, Huy Nguyen Tien, Mercado Edelwisa Segubre, Espino Fe Esperanza, Perez Ma Lucila M, Huong Vu Thi Que, Thuy Tran Thi, Tham Vo Dinh, Nga Cao Thi Phi, Ha Tran Thi Ngoc, Bilar Josie M, Bajaro Jemimah Dawn P, Baello Benilda Q, Kikuchi Mihoko, Yasunami Michio, Morita Kouichi, Watanabe Naohiro, Karbwang Juntra, Hirayama Ken |
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number. Genetics in medicine : official journal of the American College of Medical Genetics 2017 9 20 (5): 503-512. Lyons Jonathan J, Stotz Stephanie C, Chovanec Jack, Liu Yihui, Lewis Katie L, Nelson Celeste, DiMaggio Thomas, Jones Nina, Stone Kelly D, Sung Heejong, Biesecker Leslie G, Colicos Michael A, Milner Joshua |
Host genetics and dengue fever. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2017 11 56 99-110. Xavier-Carvalho Caroline, Cardoso Cynthia Chester, de Souza Kehdy Fernanda, Pacheco Antonio Guilherme, Moraes Milton Ozór |
Heritable risk for severe anaphylaxis associated with increased ?-tryptase-encoding germline copy number at TPSAB1. The Journal of allergy and clinical immunology 2020 7 147 (2): 622-632. Lyons Jonathan J, Chovanec Jack, O'Connell Michael P, Liu Yihui, Šelb Julij, Zanotti Roberta, Bai Yun, Kim Jiwon, Le Quang T, DiMaggio Tom, Schwartz Lawrence B, Komarow Hirsh D, Rijavec Matija, Carter Melody C, Milner Joshua D, Bonadonna Patrizia, Metcalfe Dean D, Korošec Pet |
Patients with mast cell activation symptoms and elevated baseline serum tryptase level have unique bone marrow morphology. The Journal of allergy and clinical immunology 2020 11 147 (4): 1497-1501.e1. Giannetti Matthew P, Akin Cem, Hufdhi Raied, Hamilton Matthew J, Weller Emily, van Anrooij Bjorn, Lyons Jonathan J, Hornick Jason L, Pinkus Geraldine, Castells Mariana, Pozdnyakova Ol |
Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia. The Journal of allergy and clinical immunology 2021 4 148 (3): 813-821.e7. Konnikova Liza, Robinson Tanya O, Owings Anna H, Shirley James F, Davis Elisabeth, Tang Ying, Wall Sarah, Li Jian, Hasan Mohammad H, Gharaibeh Raad Z, Mendoza Alvarez Lybil B, Ryan Lisa K, Doty Andria, Chovanec Jack F, O'Connell Michael P, Grunes Dianne E, Daley William P, Mayer Emeran, Chang Lin, Liu Julia, Snapper Scott B, Milner Joshua D, Glover Sarah C, Lyons Jonathan |
Routine KIT p.D816V screening identifies clonal mast cell disease in patients with Hymenoptera allergy regularly missed using baseline tryptase levels alone. The Journal of allergy and clinical immunology 2021 Mar . Šelb Julij, Rijavec Matija, Eržen Renato, Zidarn Mihaela, Kopa? Peter, Škerget Matevž, Bajrovi? Nissera, Luzar Ajda Demšar, Park Young Hwan, Liu Yihui, Šerbec Vladka ?urin, Zver Samo, Košnik Mitja, Lyons Jonathan J, Korošec Pet |
Sputum mast cell/basophil gene expression relates to inflammatory and clinical features of severe asthma. The Journal of allergy and clinical immunology 2021 2 148 (2): 428-438. Winter Natasha A, Qin Ling, Gibson Peter G, McDonald Vanessa M, Baines Katherine J, Faulkner Jack, Evans Tiffany-Jane, Fricker Micha |
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
American journal of human genetics 2021 Jan . Galatà Gabriella, García-Montero Andrés C, Kristensen Thomas, Dawoud Ahmed A Z, Muñoz-González Javier I, Meggendorfer Manja, Guglielmelli Paola, Hoade Yvette, Alvarez-Twose Ivan, Gieger Christian, Strauch Konstantin, Ferrucci Luigi, Tanaka Toshiko, Bandinelli Stefania, Schnurr Theresia M, Haferlach Torsten, Broesby-Olsen Sigurd, Vestergaard Hanne, Møller Michael Boe, Bindslev-Jensen Carsten, Vannucchi Alessandro M, Orfao Alberto, Radia Deepti, Reiter Andreas, Chase Andrew J, Cross Nicholas C P, Tapper William |
Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis. International journal of molecular sciences 2021 1 22 (1): . Nedoszytko Boguslaw, Arock Michel, Lyons Jonathan J, Bachelot Guillaume, Schwartz Lawrence B, Reiter Andreas, Jawhar Mohamad, Schwaab Juliana, Lange Magdalena, Greiner Georg, Hoermann Gregor, Niedoszytko Marek, Metcalfe Dean D, Valent Pet |
Hereditary alpha-tryptasemia in 101 patients with mast cell activation-related symptomatology including anaphylaxis. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021 1 126 (6): 655-660. Giannetti Matthew P, Weller Emily, Bormans Concetta, Novak Peter, Hamilton Matthew J, Castells Maria |
Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders. HGG advances 2022 3 3 (2): 100094. Vazquez Maribel, Chovanec Jack, Kim Jiwon, DiMaggio Thomas, Milner Joshua D, Francomano Clair A, Gurnett Christina A, Ritelli Marco, Colombi Marina, Lyons Jonathan |
Disease correlates and clinical relevance of hereditary ?-tryptasemia in patients with systemic mastocytosis. The Journal of allergy and clinical immunology 2022 10 151 (2): 485-493.e11. Sordi Benedetta, Vanderwert Fiorenza, Crupi Francesca, Gesullo Francesca, Zanotti Roberta, Bonadonna Patrizia, Crosera Lara, Elena Chiara, Fiorelli Nicolas, Ferrari Jacqueline, Grifoni Federica, Sciumè Mariarita, Parente Roberta, Triggiani Massimo, Palterer Boaz, Mecheri Valentina, Almerigogna Fabio, Santi Raffaella, Di Medio Lisa, Brandi Maria Luisa, Iorno Maria Loredana, Ciardetti Isabella, Bencini Sara, Annunziato Francesco, Mannarelli Carmela, Pieri Lisa, Guglielmelli Paola, Mannelli Francesco, Vannucchi Alessandro |
Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria. The Journal of allergy and clinical immunology 2023 9 . Sheila Mary McSweeney, Jake Saklatvala, Rossella Rispoli, Clarisse Ganier, Grzegorz Woszczek, Laurent Thomas, Kristian Hveem, Mari Løset, Nick Dand, Christos Tziotzios, Michael Simpson, John Alexander McGra |
Severe food allergy reactions are associated with ?-tryptase. The Journal of allergy and clinical immunology 2023 8 . Abigail Lang, Stephanie Kubala, Megan C Grieco, Allyson Mateja, Jacqueline Pongracic, Yihui Liu, Pamela A Frischmeyer-Guerrerio, Rajesh Kumar, Jonathan J Lyo |
An elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes: pathophysiological implications. The Journal of allergy and clinical immunology 2023 8 . Laura Polivka, Marine Madrange, Cristina Bulai-Livideanu, Stephane Barete, Thomas Ballul, Antoine Neuraz, Celine Greco, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Charles Burdet, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Clément Gourguechon, Ghandi Damaj, Laurent Frenzel, Cecile Meni, Hassiba Bouktit, Anne Florence Collange, Caroline Gaudy-Marqueste, Marie Gousseff, Edwige Le Mouel, Mohamed Hamidou, Antoine Neel, Dana Ranta, Roland Jaussaud, Philippe Guilpain, Danielle Canioni, Thierry Jo Molina, Julie Bruneau, Ludovic Lhermitte, Nicolas Garcelon, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Frederique Retornaz, Quentin Cabrera, Patricia Zunic, Marie Pierre Gourin, Ewa Wierzbicka-Hainaut, Jean Francois Viallard, Christian Lavigne, Cyrille Hoarau, Isabelle Durieu, Mael Heiblig, Sophie Dimicoli-Salazar, Jose Miguel Torregrosa-Diaz, Angele Soria, Michel Arock, Olivier Lortholary, Christine Bodemer, Olivier Hermine, Julien Rossignol, |
Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals. Allergy 2023 10 . David González-de-Olano, Paula Navarro-Navarro, Javier I Muñoz-González, Laura Sánchez-Muñoz, Ana Henriques, Ana de-Andrés-Martín, Dolores Peralta-Arjonilla, Andrea Mayado, María Jara-Acevedo, Andrés C García-Montero, Alberto Orfao, Iván Álvarez-Two |
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