Literature DB >> 29748908

First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease.

Vito Sabato1, Jack Chovanec2, Margaretha Faber1, Joshua D Milner2, Didier Ebo1, Jonathan J Lyons3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29748908     DOI： 10.1007/s10875-018-0506-y

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  11 in total

1.  Evaluation of biologic activity of tryptase secreted from blast cells in acute myeloid leukemia.

Authors:  Karoline Sonneck; Stefan Florian; Alexandra Böhm; Maria-Theresa Krauth; Rudin Kondo; Alexander W Hauswirth; Karoline V Gleixner; Karl J Aichberger; Sophia Derdak; Winfried F Pickl; Wolfgang R Sperr; Lawrence B Schwartz; Peter Valent
Journal:  Leuk Lymphoma       Date:  2006-05

2.  Epidemiology of systemic mastocytosis in Denmark.

Authors:  Sarah S Cohen; Stine Skovbo; Hanne Vestergaard; Thomas Kristensen; Michael Møller; Carsten Bindslev-Jensen; Jon P Fryzek; Sigurd Broesby-Olsen
Journal:  Br J Haematol       Date:  2014-04-25       Impact factor: 6.998

Review 3.  Mast Cells, Mastocytosis, and Related Disorders.

Authors:  Theoharis C Theoharides; Peter Valent; Cem Akin
Journal:  N Engl J Med       Date:  2015-07-09       Impact factor: 91.245

4.  Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms.

Authors:  Iván Alvarez-Twose; David González de Olano; Laura Sánchez-Muñoz; Almudena Matito; Maria I Esteban-López; Arantza Vega; Maria Belén Mateo; Maria D Alonso Díaz de Durana; Belén de la Hoz; Maria D Del Pozo Gil; Teresa Caballero; Ana Rosado; Isabel Sánchez Matas; Cristina Teodósio; María Jara-Acevedo; Manuela Mollejo; Andrés García-Montero; Alberto Orfao; Luis Escribano
Journal:  J Allergy Clin Immunol       Date:  2010-06       Impact factor: 10.793

5.  Familial hypertryptasemia with associated mast cell activation syndrome.

Authors:  Vito Sabato; Els Van De Vijver; Margo Hagendorens; Inge Vrelust; Edwin Reyniers; Erik Fransen; Chris Bridts; Luc De Clerck; Geert Mortier; Peter Valent; Didier Ebo
Journal:  J Allergy Clin Immunol       Date:  2014-07-30       Impact factor: 10.793

6.  Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

Authors:  Jonathan J Lyons; Xiaomin Yu; Jason D Hughes; Quang T Le; Ali Jamil; Yun Bai; Nancy Ho; Ming Zhao; Yihui Liu; Michael P O'Connell; Neil N Trivedi; Celeste Nelson; Thomas DiMaggio; Nina Jones; Helen Matthews; Katie L Lewis; Andrew J Oler; Ryan J Carlson; Peter D Arkwright; Celine Hong; Sherene Agama; Todd M Wilson; Sofie Tucker; Yu Zhang; Joshua J McElwee; Maryland Pao; Sarah C Glover; Marc E Rothenberg; Robert J Hohman; Kelly D Stone; George H Caughey; Theo Heller; Dean D Metcalfe; Leslie G Biesecker; Lawrence B Schwartz; Joshua D Milner
Journal:  Nat Genet       Date:  2016-10-17       Impact factor: 38.330

7.  Genetic deficiency of human mast cell alpha-tryptase.

Authors:  D Soto; C Malmsten; J L Blount; D J Muilenburg; G H Caughey
Journal:  Clin Exp Allergy       Date:  2002-07       Impact factor: 5.018

8.  Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities.

Authors:  Jonathan J Lyons; Guangping Sun; Kelly D Stone; Celeste Nelson; Laura Wisch; Michelle O'Brien; Nina Jones; Andrew Lindsley; Hirsh D Komarow; Yun Bai; Linda M Scott; Daly Cantave; Irina Maric; J Pablo Abonia; Marc E Rothenberg; Lawrence B Schwartz; Joshua D Milner; Todd M Wilson
Journal:  J Allergy Clin Immunol       Date:  2014-01-25       Impact factor: 10.793

9.  Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Authors:  Neil N Trivedi; Bani Tamraz; Catherine Chu; Pui-Yan Kwok; George H Caughey
Journal:  J Allergy Clin Immunol       Date:  2009-09-12       Impact factor: 10.793

10.  Splenic mastocytosis: report of two cases and detection of the transforming somatic C-KIT mutation D816V.

Authors:  Friedrich Wimazal; Josef Schwarzmeier; Karl Sotlar; Ingrid Simonitsch; Wolfgang R Sperr; Robert Fritsche-Polanz; Manuela Födinger; Jörg Schubert; Hans-Peter Horny; Peter Valent
Journal:  Leuk Lymphoma       Date:  2004-04
View more
  15 in total

Review 1.  Hereditary Alpha-Tryptasemia: a Commonly Inherited Modifier of Anaphylaxis.

Authors:  Richard Wu; Jonathan J Lyons
Journal:  Curr Allergy Asthma Rep       Date:  2021-05-10       Impact factor: 4.806

Review 2.  Mast cell activation in the context of elevated basal serum tryptase: genetics and presentations.

Authors:  Paneez Khoury; Jonathan J Lyons
Journal:  Curr Allergy Asthma Rep       Date:  2019-11-27       Impact factor: 4.806

Review 3.  Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome.

Authors:  Peter Valent; Cem Akin; Patrizia Bonadonna; Karin Hartmann; Knut Brockow; Marek Niedoszytko; Boguslaw Nedoszytko; Frank Siebenhaar; Wolfgang R Sperr; Joanna N G Oude Elberink; Joseph H Butterfield; Ivan Alvarez-Twose; Karl Sotlar; Andreas Reiter; Hanneke C Kluin-Nelemans; Olivier Hermine; Jason Gotlib; Sigurd Broesby-Olsen; Alberto Orfao; Hans-Peter Horny; Massimo Triggiani; Michel Arock; Lawrence B Schwartz; Dean D Metcalfe
Journal:  J Allergy Clin Immunol Pract       Date:  2019-02-05

Review 4.  Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome.

Authors:  Peter Valent; Patrizia Bonadonna; Karin Hartmann; Sigurd Broesby-Olsen; Knut Brockow; Joseph H Butterfield; Massimo Triggiani; Jonathan J Lyons; Joanna N G Oude Elberink; Michel Arock; Dean D Metcalfe; Cem Akin
Journal:  Int Arch Allergy Immunol       Date:  2019-06-28       Impact factor: 2.749

Review 5.  Clinical relevance of inherited genetic differences in human tryptases: Hereditary alpha-tryptasemia and beyond.

Authors:  Sarah C Glover; Melody C Carter; Peter Korošec; Patrizia Bonadonna; Lawrence B Schwartz; Joshua D Milner; George H Caughey; Dean D Metcalfe; Jonathan J Lyons
Journal:  Ann Allergy Asthma Immunol       Date:  2021-08-13       Impact factor: 6.248

6.  Defining baseline variability of serum tryptase levels improves accuracy in identifying anaphylaxis.

Authors:  Allyson Mateja; Qinlu Wang; Jack Chovanec; Jiwon Kim; Kenneth J Wilson; Lawrence B Schwartz; Sarah C Glover; Melody C Carter; Dean D Metcalfe; Erica Brittain; Jonathan J Lyons
Journal:  J Allergy Clin Immunol       Date:  2021-08-20       Impact factor: 14.290

7.  Proceedings from the Inaugural American Initiative in Mast Cell Diseases (AIM) Investigator Conference.

Authors:  Jason Gotlib; Tracy I George; Melody C Carter; K Frank Austen; Bruce Bochner; Daniel F Dwyer; Jonathan J Lyons; Matthew J Hamilton; Joseph Butterfield; Patrizia Bonadonna; Catherine Weiler; Stephen J Galli; Lawrence B Schwartz; Hanneke Oude Elberink; Anne Maitland; Theoharis Theoharides; Celalettin Ustun; Hans-Peter Horny; Alberto Orfao; Michael Deininger; Deepti Radia; Mohamad Jawhar; Hanneke Kluin-Nelemans; Dean D Metcalfe; Michel Arock; Wolfgang R Sperr; Peter Valent; Mariana Castells; Cem Akin
Journal:  J Allergy Clin Immunol       Date:  2021-03-11       Impact factor: 14.290

8.  Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.

Authors:  Quang T Le; Jonathan J Lyons; Andrea N Naranjo; Ana Olivera; Robert A Lazarus; Dean D Metcalfe; Joshua D Milner; Lawrence B Schwartz
Journal:  J Exp Med       Date:  2019-07-23       Impact factor: 14.307

9.  Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.

Authors:  Georg Greiner; Bettina Sprinzl; Aleksandra Górska; Franz Ratzinger; Michael Gurbisz; Nadine Witzeneder; Klaus G Schmetterer; Bettina Gisslinger; Goekhan Uyanik; Emir Hadzijusufovic; Harald Esterbauer; Karoline V Gleixner; Maria T Krauth; Michael Pfeilstöcker; Felix Keil; Heinz Gisslinger; Boguslaw Nedoszytko; Marek Niedoszytko; Wolfgang R Sperr; Peter Valent; Gregor Hoermann
Journal:  Blood       Date:  2021-01-14       Impact factor: 22.113

Review 10.  Hymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia.

Authors:  Michael P O'Connell; Jonathan J Lyons
Journal:  Curr Opin Allergy Clin Immunol       Date:  2020-10
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.