Zobrazeno 1 - 10
of 55
pro vyhledávání: '"TPSAB1"'
Autor:
Maribel Vazquez, Jack Chovanec, Jiwon Kim, Thomas DiMaggio, Joshua D. Milner, Clair A. Francomano, Christina A. Gurnett, Marco Ritelli, Marina Colombi, Jonathan J. Lyons
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100094- (2022)
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number. HαT affects 5% to 7% of Western populations and h
Externí odkaz:
https://doaj.org/article/b594488d72eb46e68b3649b5e8e35ddd
Akademický článek
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Autor:
Abimbola J Aminu, Maria Petkova, Weixuan Chen, Zeyuan Yin, Vlad S Kuzmin, Andrew J Atkinson, Halina Dobrzynski
Publikováno v:
Applied Sciences, Vol 11, Iss 23, p 11366 (2021)
The sinus node (SN) is the heart’s primary pacemaker and has a unique expression of pacemaking ion channels and immune cell markers. The role of microribonucleic acids (miRNAs) in control of ion channels and immune function of the sinus node is not
Externí odkaz:
https://doaj.org/article/d995cc1fe45240a596d5914b13b0913a
Autor:
Melody C. Carter, Sarah C. Glover, Dean D. Metcalfe, Peter Korošec, George H. Caughey, Patrizia Bonadonna, Lawrence B. Schwartz, Joshua D. Milner, Jonathan J. Lyons
Publikováno v:
Annals of Allergy, Asthma & Immunology. 127:638-647
Objective To describe our current understanding of hereditary α-tryptasemia (HαT), how HαT fits into the evolutionary context of tryptases and contemporary framework of mast cell–associated disorders, and to discuss the future clinical and thera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::666eb8ab560e93c87c9c2e44af5590f3
https://doi.org/10.1016/j.anai.2021.08.009
https://doi.org/10.1016/j.anai.2021.08.009
Autor:
Theo Gülen, Maria Ekoff, Sven-Erik Dahlén, Andrea Teufelberger, Gunnar Nilsson, Barbro Dahlén, Christine Möller Westerberg, Katarina Lyberg
Publikováno v:
Journal of Allergy and Clinical Immunology. 148:889-894
Background Mastocytosis encompasses a heterogeneous group of disorders characterized by accumulation of clonal mast cells (MCs) in the skin and/or internal organs. Patients typically present with a broad variety of recurrent mediator-related clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afea9bd6996f6565d84896d48080f2c
https://doi.org/10.1016/j.jaci.2021.02.023
https://doi.org/10.1016/j.jaci.2021.02.023
Autor:
Klaus G. Schmetterer, Nadine Witzeneder, Wolfgang R. Sperr, Heinz Gisslinger, Bogusław Nedoszytko, Gregor Hoermann, Harald Esterbauer, Emir Hadzijusufovic, Marek Niedoszytko, Michael Gurbisz, Goekhan Uyanik, Bettina Sprinzl, Felix Keil, Franz Ratzinger, Peter Valent, Bettina Gisslinger, Karoline V. Gleixner, Maria Theresa Krauth, Michael Pfeilstöcker, Aleksandra Górska, Georg Greiner
Publikováno v:
Blood. 137:238-247
Mastocytosis is a hematopoietic neoplasm characterized by expansion of KIT D816V-mutated clonal mast cells in various organs and severe or even life-threatening anaphylactic reactions. Recently, hereditary α-tryptasemia (HαT) has been described as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dda79b3680fba332c2161e5813a74388
https://doi.org/10.1182/blood.2020006157
https://doi.org/10.1182/blood.2020006157
Autor:
Laura Hernández-Hernández, Catalina Sanz, Elena Marcos-Vadillo, Asunción García-Sánchez, Esther Moreno, Félix Lorente, David González-de-Olano, Ignacio Dávila, María Isidoro-García
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Frontiers in Medicine
Frontiers in Medicine
Background: Some recent familial studies have described a pattern of autosomal dominant inheritance for increased basal serum tryptase (BST), but no correlation with mRNA expression and gene dose have been reported.Objective: We analyzed TPSAB1 mRNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacdfcc3434c185e794e33fcaa4d65c4
https://doi.org/10.3389/fmed.2021.577081
https://doi.org/10.3389/fmed.2021.577081
Autor:
Matthew J. Hamilton, Jason L. Hornick, Matthew P. Giannetti, Peter Novak, Lybil B Mendoza-Alvarez, Jonathan J. Lyons, Sarah C. Glover, Raied Hufdhi, Mariana Castells, Emily Weller, Melissa Zhao, Olga Pozdnyakova
Publikováno v:
Am J Surg Pathol
Mast cells (MCs) are important in intestinal homeostasis and pathogen defense but are also implicated in many of the clinical manifestations in disorders such as irritable bowel syndrome. The utility of specifically staining for MCs in order to quant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770ece1509880b2897e353aaafad0253
https://pubmed.ncbi.nlm.nih.gov/33481382
https://pubmed.ncbi.nlm.nih.gov/33481382
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Peter Novak, Matthew J. Hamilton, Mariana Castells, Emily Weller, Concetta Bormans, Matthew P. Giannetti
Publikováno v:
Annals of allergy, asthmaimmunology : official publication of the American College of Allergy, Asthma,Immunology. 126(6)
Background Hereditary alpha-tryptasemia (HαT) is an autosomal dominant genetic trait characterized by multiple copies of the alpha-tryptase gene at the TPSAB1 locus. Previously described symptomatology involves multiple organ systems and anaphylaxis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639f7449f0e73150bc2c5941571dfbd0
https://pubmed.ncbi.nlm.nih.gov/33465452
https://pubmed.ncbi.nlm.nih.gov/33465452