Literature DB >> 27807284

Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity.

Calliope A Dendrou1, Adrian Cortes1,2, Lydia Shipman1, Hayley G Evans1, Kathrine E Attfield3, Luke Jostins2, Thomas Barber1, Gurman Kaur3, Subita Balaram Kuttikkatte3, Oliver A Leach1, Christiane Desel1, Soren L Faergeman1,4, Jane Cheeseman5, Matt J Neville5,6, Stephen Sawcer7, Alastair Compston7, Adam R Johnson8, Christine Everett8, John I Bell9, Fredrik Karpe5,6, Mark Ultsch8, Charles Eigenbrot8, Gil McVean2, Lars Fugger10,3,4.   

Abstract

Thousands of genetic variants have been identified, which contribute to the development of complex diseases, but determining how to elucidate their biological consequences for translation into clinical benefit is challenging. Conflicting evidence regarding the functional impact of genetic variants in the tyrosine kinase 2 (TYK2) gene, which is differentially associated with common autoimmune diseases, currently obscures the potential of TYK2 as a therapeutic target. We aimed to resolve this conflict by performing genetic meta-analysis across disorders; subsequent molecular, cellular, in vivo, and structural functional follow-up; and epidemiological studies. Our data revealed a protective homozygous effect that defined a signaling optimum between autoimmunity and immunodeficiency and identified TYK2 as a potential drug target for certain common autoimmune disorders.
Copyright © 2016, American Association for the Advancement of Science.

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Year:  2016        PMID： 27807284      PMCID： PMC5737835          DOI： 10.1126/scitranslmed.aag1974

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN： 1946-6234            Impact factor:   17.956


  50 in total

1.  Structural and thermodynamic characterization of the TYK2 and JAK3 kinase domains in complex with CP-690550 and CMP-6.

Authors:  Jill E Chrencik; Akshay Patny; Iris K Leung; Brian Korniski; Thomas L Emmons; Troii Hall; Robin A Weinberg; Jennifer A Gormley; Jennifer M Williams; Jacqueline E Day; Jeffrey L Hirsch; James R Kiefer; Joseph W Leone; H David Fischer; Cynthia D Sommers; Horng-Chih Huang; E J Jacobsen; Ruth E Tenbrink; Alfredo G Tomasselli; Timothy E Benson
Journal:  J Mol Biol       Date:  2010-05-15       Impact factor: 5.469

2.  Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition.

Authors:  Patrick J Lupardus; Mark Ultsch; Heidi Wallweber; Pawan Bir Kohli; Adam R Johnson; Charles Eigenbrot
Journal:  Proc Natl Acad Sci U S A       Date:  2014-05-19       Impact factor: 11.205

Review 3.  Regulation of type I interferon responses.

Authors:  Lionel B Ivashkiv; Laura T Donlin
Journal:  Nat Rev Immunol       Date:  2014-01       Impact factor: 53.106

4.  2-Amino-[1,2,4]triazolo[1,5-a]pyridines as JAK2 inhibitors.

Authors:  Michael Siu; Richard Pastor; Wendy Liu; Kathy Barrett; Megan Berry; Wade S Blair; Christine Chang; Jacob Z Chen; Charles Eigenbrot; Nico Ghilardi; Paul Gibbons; Haiying He; Christopher A Hurley; Jane R Kenny; S Cyrus Khojasteh; Hoa Le; Leslie Lee; Joseph P Lyssikatos; Steve Magnuson; Rebecca Pulk; Vickie Tsui; Mark Ultsch; Yisong Xiao; Bing-yan Zhu; Deepak Sampath
Journal:  Bioorg Med Chem Lett       Date:  2013-06-15       Impact factor: 2.823

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Journal:  Nat Biotechnol       Date:  2012-03-07       Impact factor: 54.908

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Authors:  Lam C Tsoi; Sarah L Spain; Jo Knight; Eva Ellinghaus; Philip E Stuart; Francesca Capon; Jun Ding; Yanming Li; Trilokraj Tejasvi; Johann E Gudjonsson; Hyun M Kang; Michael H Allen; Ross McManus; Giuseppe Novelli; Lena Samuelsson; Joost Schalkwijk; Mona Ståhle; A David Burden; Catherine H Smith; Michael J Cork; Xavier Estivill; Anne M Bowcock; Gerald G Krueger; Wolfgang Weger; Jane Worthington; Rachid Tazi-Ahnini; Frank O Nestle; Adrian Hayday; Per Hoffmann; Juliane Winkelmann; Cisca Wijmenga; Cordelia Langford; Sarah Edkins; Robert Andrews; Hannah Blackburn; Amy Strange; Gavin Band; Richard D Pearson; Damjan Vukcevic; Chris C A Spencer; Panos Deloukas; Ulrich Mrowietz; Stefan Schreiber; Stephan Weidinger; Sulev Koks; Külli Kingo; Tonu Esko; Andres Metspalu; Henry W Lim; John J Voorhees; Michael Weichenthal; H Erich Wichmann; Vinod Chandran; Cheryl F Rosen; Proton Rahman; Dafna D Gladman; Christopher E M Griffiths; Andre Reis; Juha Kere; Rajan P Nair; Andre Franke; Jonathan N W N Barker; Goncalo R Abecasis; James T Elder; Richard C Trembath
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

8.  Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals.

Authors:  Alexis Battle; Sara Mostafavi; Xiaowei Zhu; James B Potash; Myrna M Weissman; Courtney McCormick; Christian D Haudenschild; Kenneth B Beckman; Jianxin Shi; Rui Mei; Alexander E Urban; Stephen B Montgomery; Douglas F Levinson; Daphne Koller
Journal:  Genome Res       Date:  2013-10-03       Impact factor: 9.043

9.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

10.  Integrative analysis of 111 reference human epigenomes.

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Journal:  Nature       Date:  2015-02-19       Impact factor: 69.504
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  73 in total

Review 1.  De-coding genetic risk variants in type 1 diabetes.

Authors:  Melanie R Shapiro; Puchong Thirawatananond; Leeana Peters; Robert C Sharp; Similoluwa Ogundare; Amanda L Posgai; Daniel J Perry; Todd M Brusko
Journal:  Immunol Cell Biol       Date:  2021-02-24       Impact factor: 5.126

Review 2.  Janus kinases to jakinibs: from basic insights to clinical practice.

Authors:  Massimo Gadina; Mimi T Le; Daniella M Schwartz; Olli Silvennoinen; Shingo Nakayamada; Kunihiro Yamaoka; John J O'Shea
Journal:  Rheumatology (Oxford)       Date:  2019-02-01       Impact factor: 7.580

3.  Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease.

Authors:  Parisa Shooshtari; Hailiang Huang; Chris Cotsapas
Journal:  Am J Hum Genet       Date:  2017-07-06       Impact factor: 11.025

Review 4.  Revisiting the gut-joint axis: links between gut inflammation and spondyloarthritis.

Authors:  Eric Gracey; Lars Vereecke; Dermot McGovern; Mareike Fröhling; Georg Schett; Silvio Danese; Martine De Vos; Filip Van den Bosch; Dirk Elewaut
Journal:  Nat Rev Rheumatol       Date:  2020-07-13       Impact factor: 20.543

5.  Cracking the genetic code of autoimmune disease.

Authors:  Simon Makin
Journal:  Nature       Date:  2021-07       Impact factor: 49.962

Review 6.  The monogenic basis of human tuberculosis.

Authors:  Stephanie Boisson-Dupuis
Journal:  Hum Genet       Date:  2020-02-13       Impact factor: 4.132

7.  MAPK pathway and B cells overactivation in multiple sclerosis revealed by phosphoproteomics and genomic analysis.

Authors:  Ekaterina Kotelnikova; Narsis A Kiani; Dimitris Messinis; Inna Pertsovskaya; Vicky Pliaka; Marti Bernardo-Faura; Melanie Rinas; Gemma Vila; Irati Zubizarreta; Irene Pulido-Valdeolivas; Theodore Sakellaropoulos; Wolfgang Faigle; Gilad Silberberg; Mar Masso; Pernilla Stridh; Janina Behrens; Tomas Olsson; Roland Martin; Friedemann Paul; Leonidas G Alexopoulos; Julio Saez-Rodriguez; Jesper Tegner; Pablo Villoslada
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-19       Impact factor: 11.205

Review 8.  Ankylosing spondylitis: an autoimmune or autoinflammatory disease?

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Review 9.  In The Blood: Connecting Variant to Function In Human Hematopoiesis.

Authors:  Satish K Nandakumar; Xiaotian Liao; Vijay G Sankaran
Journal:  Trends Genet       Date:  2020-06-10       Impact factor: 11.639

10.  Identification of imidazo[1,2-b]pyridazine TYK2 pseudokinase ligands as potent and selective allosteric inhibitors of TYK2 signalling.

Authors:  R Moslin; D Gardner; J Santella; Y Zhang; J V Duncia; C Liu; J Lin; J S Tokarski; J Strnad; D Pedicord; J Chen; Y Blat; A Zupa-Fernandez; L Cheng; H Sun; C Chaudhry; C Huang; C D'Arienzo; J S Sack; J K Muckelbauer; C Chang; J Tredup; D Xie; N Aranibar; J R Burke; P H Carter; D S Weinstein
Journal:  Medchemcomm       Date:  2016-12-15       Impact factor: 3.597
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