Literature DB >> 24472624

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

Jonathan J Lyons1, Guangping Sun1, Kelly D Stone1, Celeste Nelson1, Laura Wisch1, Michelle O'Brien1, Nina Jones2, Andrew Lindsley3, Hirsh D Komarow1, Yun Bai1, Linda M Scott1, Daly Cantave4, Irina Maric5, J Pablo Abonia3, Marc E Rothenberg3, Lawrence B Schwartz6, Joshua D Milner7, Todd M Wilson8.   

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Year:  2014        PMID： 24472624      PMCID： PMC4016972          DOI： 10.1016/j.jaci.2013.11.039

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Authors:  S Chavanas; C Garner; C Bodemer; M Ali; D H Teillac; J Wilkinson; J L Bonafé; M Paradisi; D P Kelsell; S i Ansai; Y Mitsuhashi; M Larrègue; I M Leigh; J I Harper; A Taïeb; Y d Prost; L R Cardon; A Hovnanian
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

Authors:  X Tang; M Boxer; A Drummond; P Ogston; M Hodgins; A D Burden
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

3.  Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal.

Authors:  Peter Valent; Cem Akin; Michel Arock; Knut Brockow; Joseph H Butterfield; Melody C Carter; Mariana Castells; Luis Escribano; Karin Hartmann; Philip Lieberman; Boguslaw Nedoszytko; Alberto Orfao; Lawrence B Schwartz; Karl Sotlar; Wolfgang R Sperr; Massimo Triggiani; Rudolf Valenta; Hans-Peter Horny; Dean D Metcalfe
Journal:  Int Arch Allergy Immunol       Date:  2011-10-27       Impact factor: 2.749

4.  STAT3 mutations in the hyper-IgE syndrome.

Authors:  Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk N Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John I Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher
Journal:  N Engl J Med       Date:  2007-09-19       Impact factor: 91.245

5.  TGFβ receptor mutations impose a strong predisposition for human allergic disease.

Authors:  Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Gretchen Oswald; Kristin Chichester; Loretha Myers; Marc K Halushka; Maria Oliva-Hemker; Robert A Wood; Harry C Dietz
Journal:  Sci Transl Med       Date:  2013-07-24       Impact factor: 17.956

6.  Somatic D816V KIT mutation in a case of adult-onset familial mastocytosis.

Authors:  Roberta Zanotti; Livio Simioni; Andres C Garcia-Montero; Omar Perbellini; Patrizia Bonadonna; Beatrice Caruso; Maria Jara-Acevedo; Massimiliano Bonifacio; Giovanna De Matteis
Journal:  J Allergy Clin Immunol       Date:  2013-02       Impact factor: 10.793

7.  Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Authors:  Michael J Ombrello; Elaine F Remmers; Guangping Sun; Alexandra F Freeman; Shrimati Datta; Parizad Torabi-Parizi; Naeha Subramanian; Tom D Bunney; Rhona W Baxendale; Marta S Martins; Neil Romberg; Hirsh Komarow; Ivona Aksentijevich; Hun Sik Kim; Jason Ho; Glenn Cruse; Mi-Yeon Jung; Alasdair M Gilfillan; Dean D Metcalfe; Celeste Nelson; Michelle O'Brien; Laura Wisch; Kelly Stone; Daniel C Douek; Chhavi Gandhi; Alan A Wanderer; Hane Lee; Stanley F Nelson; Kevin V Shianna; Elizabeth T Cirulli; David B Goldstein; Eric O Long; Susan Moir; Eric Meffre; Steven M Holland; Daniel L Kastner; Matilda Katan; Hal M Hoffman; Joshua D Milner
Journal:  N Engl J Med       Date:  2012-01-11       Impact factor: 91.245

8.  High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

Authors:  J Pablo Abonia; Ting Wen; Emily M Stucke; Tommie Grotjan; Molly S Griffith; Katherine A Kemme; Margaret H Collins; Philip E Putnam; James P Franciosi; Karl F von Tiehl; Brad T Tinkle; Keith A Marsolo; Lisa J Martin; Stephanie M Ware; Marc E Rothenberg
Journal:  J Allergy Clin Immunol       Date:  2013-04-19       Impact factor: 10.793

9.  Inhibition of CD203c membrane up-regulation in human basophils by high dilutions of histamine: a controlled replication study.

Authors:  Salvatore Chirumbolo; Maurizio Brizzi; Riccardo Ortolani; Antonio Vella; Paolo Bellavite
Journal:  Inflamm Res       Date:  2009-05-06       Impact factor: 4.575
  9 in total
  38 in total

Review 1.  Molecular, genetic, and cellular bases for treating eosinophilic esophagitis.

Authors:  Marc E Rothenberg
Journal:  Gastroenterology       Date:  2015-02-07       Impact factor: 22.682

Review 2.  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 3.  Mast cell proteases as pharmacological targets.

Authors:  George H Caughey
Journal:  Eur J Pharmacol       Date:  2015-05-07       Impact factor: 4.432

4.  Understanding unspecific complaints through genetics.

Authors:  Eli Sprecher
Journal:  Nat Genet       Date:  2016-11-29       Impact factor: 38.330

Review 5.  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 6.  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

7.  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

Review 8.  Invited Commentary: Mast Cell Activation.

Authors:  Mariana C Castells
Journal:  Curr Allergy Asthma Rep       Date:  2017-09-27       Impact factor: 4.806

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

Authors:  Vito Sabato; Jack Chovanec; Margaretha Faber; Joshua D Milner; Didier Ebo; Jonathan J Lyons
Journal:  J Clin Immunol       Date:  2018-05-11       Impact factor: 8.317

10.  Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

Authors:  Joseph D Sherrill; Kiran Kc; Xinjian Wang; Ting Wen; Adam Chamberlin; Emily M Stucke; Margaret H Collins; J Pablo Abonia; Yanyan Peng; Qiang Wu; Philip E Putnam; Phillip J Dexheimer; Bruce J Aronow; Leah C Kottyan; Kenneth M Kaufman; John B Harley; Taosheng Huang; Marc E Rothenberg
Journal:  JCI Insight       Date:  2018-04-19
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