Literature DB >> 34159509

ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss.

Yvan Jamilloux1,2,3, Thibaud Mathis4, Olivier Grunewald5, Hélène Dollfuss6, Thomas Henry7, Pascal Sève8, Isabelle Meunier9.   

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Year:  2021        PMID： 34159509     DOI： 10.1007/s10875-021-01087-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.542


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  7 in total

Review 1.  An Update on Autoinflammatory Diseases: Relopathies.

Authors:  Annemarie Steiner; Cassandra R Harapas; Seth L Masters; Sophia Davidson
Journal:  Curr Rheumatol Rep       Date:  2018-05-30       Impact factor: 4.592

2.  Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose.

Authors:  Ping Zhou; Yang She; Na Dong; Peng Li; Huabin He; Alessio Borio; Qingcui Wu; Shan Lu; Xiaojun Ding; Yong Cao; Yue Xu; Wenqing Gao; Mengqiu Dong; Jingjin Ding; Da-Cheng Wang; Alla Zamyatina; Feng Shao
Journal:  Nature       Date:  2018-08-15       Impact factor: 49.962

3.  Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.

Authors:  Linqing Zhong; Jun Wang; Wei Wang; Lin Wang; Meiying Quan; Xiaoyan Tang; Lijuan Gou; Min Wei; Juan Xiao; Tiannan Zhang; Ruifang Sui; Qing Zhou; Hongmei Song
Journal:  J Clin Immunol       Date:  2020-01-14       Impact factor: 8.317

Review 4.  Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Authors:  Eugenio Sangiorgi; Alessia Azzarà; Clelia Molinario; Roberta Pietrobono; Donato Rigante; Elena Verrecchia; Ludovico Luca Sicignano; Maurizio Genuardi; Fiorella Gurrieri; Raffaele Manna
Journal:  Eur J Hum Genet       Date:  2019-05-03       Impact factor: 4.246

5.  NF-kappaB transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth.

Authors:  Ruth Schmidt-Ullrich; Desmond J Tobin; Diana Lenhard; Pascal Schneider; Ralf Paus; Claus Scheidereit
Journal:  Development       Date:  2006-02-15       Impact factor: 6.868

Review 6.  Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.

Authors:  Eldad Ben-Chetrit; Marco Gattorno; Ahmet Gul; Daniel L Kastner; Helen J Lachmann; Isabelle Touitou; Nicolino Ruperto
Journal:  Ann Rheum Dis       Date:  2018-08-12       Impact factor: 19.103

7.  ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

Authors:  Lloyd B Williams; Asif Javed; Amin Sabri; Denise J Morgan; Chad D Huff; John R Grigg; Xiu Ting Heng; Alexis J Khng; Iris H I M Hollink; Margaux A Morrison; Leah A Owen; Katherine Anderson; Krista Kinard; Rebecca Greenlees; Danica Novacic; H Nida Sen; Wadih M Zein; George M Rodgers; Albert T Vitale; Neena B Haider; Axel M Hillmer; Pauline C Ng; Anson Cheng; Linda Zheng; Mark C Gillies; Marjon van Slegtenhorst; P Martin van Hagen; Tom O A R Missotten; Gary L Farley; Michael Polo; James Malatack; Julie Curtin; Frank Martin; Susan Arbuckle; Stephen I Alexander; Megan Chircop; Sonia Davila; Kathleen B Digre; Robyn V Jamieson; Margaret M DeAngelis
Journal:  Genet Med       Date:  2019-04-10       Impact factor: 8.822
  7 in total

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