换一批Gain-of-function mutations in ALPK1 cause an NF-kappa B-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
作者：
Kozycki, Christina Torres [1]
;
Kodati, Shilpa [2]
;
Huryn, Laryssa [3]
;
Wang, Hongying [4]
;
Warner, Blake M. [5]
;
Jani, Priyam [6]
;
Hammoud, Dima [7]
;
Abu-Asab, Mones S. [8]
;
Jittayasothorn, Yingyos [9]
;
Mattapallil, Mary J. [10]
;
Tsai, Wanxia Li [11]
;
Ullah, Ehsan [12]
;
Zhou, Ping [13]
;
Tian, Xiaoying [14]
;
Soldatos, Ariane [15]
;
Moutsopoulos, Niki [16]
;
Kao-Hsieh, Marie [17]
;
Heller, Theo [18]
;
Cowen, Edward W. [19]
;
Lee, Chyi-Chia Richard [20]
;
Toro, Camilo [21]
;
Kalsi, Shelley [22]
;
Khavandgar, Zohreh [23]
;
Baer, Alan [24]
;
Beach, Margaret [25]
;
Long Priel, Debra [26]
;
Nehrebecky, Michele [27]
;
Rosenzweig, Sofia [28]
;
Romeo, Tina [29]
;
Deuitch, Natalie [30]
;
Brenchley, Laurie [31]
;
Pelayo, Eileen [32]
;
Zein, Wadih [33]
;
Sen, Nida [34]
;
Yang, Alexander H. [35]
;
Farley, Gary [36]
;
Sweetser, David A. ;
Briere, Lauren ;
Yang, Janine ;
de Oliveira Poswar, Fabiano ;
Schwartz, Ida ;
Silva Alves, Tamires ;
Dusser, Perrine ;
Kone-Paut, Isabelle ;
Touitou, Isabelle ;
Titah, Salah Mohamed ;
van Hagen, Petrus Martin ;
van Wijck, Rogier T. A. ;
van der Spek, Peter J. ;
Yano, Hiromi ;
Benneche, Andreas ;
Apalset, Ellen M. ;
Jansson, Ragnhild Wivestad ;
Caspi, Rachel R. ;
Kuhns, Douglas Byron ;
Gadina, Massimo ;
Takada, Hidetoshi ;
Ida, Hiroaki ;
Nishikomori, Ryuta ;
Verrecchia, Elena ;
Sangiorgi, Eugenio ;
Manna, Raffaele ;
Brooks, Brian P. ;
Sobrin, Lucia ;
Hufnagel, Robert ;
Beck, David ;
Shao, Feng ;
Ombrello, Amanda K. ;
Aksentijevich, Ivona ;
Kastner, Daniel L. ;
Undiagnosed Dis Network
作者单位：
Massachusetts Eye & Ear
[1]
Hosp Clin Porto Alegre
[2]
Hop Bicetre,Univ Paris Sud
[3]
Ctr Reference Malad Auto Inflammat & Amylose Infl,Univ Paris Saclay
[4]
CeReMAIA,Univ Montpellier
[5]
Hop Fdn Adolphe Rothschild
[6]
Depts Internal Med & Immunol,Erasmus MC
[7]
Pathol & Clin Bioinformat,Erasmus MC
[8]
Iizuka Hosp
[9]
Dept Med Genet,Haukeland Hosp
[10]
Dept Rheumatol,Haukeland Hosp
[11]
Dept Ophthalmol,Haukeland Hosp
[12]
Lab Immunol,NEI
[13]
Frederick Natl Lab Canc Res,Neutrophil Monitoring Lab
[14]
Natl Inst Arthrit & Musculoskeletal & Skin Dis
[15]
Dept Child Hlth,Univ Tsukuba
[16]
Sch Med,Kurume Univ
[17]
Dept Pediat & Child Hlth,Kurume Univ
[18]
Period Fevers Res Ctr,Univ Cattolica Sacro Cuore
[19]
Ist Gen Med,Univ Cattolica Sacro Cuore
[20]
Ophthalm Genet & Visual Funct Branch,NEI
[21]
NYU
[22]
Natl Inst Biol Sci Beijing
[23]
National Institutes of Health (NIH) - USA,Natl Human Genome Res Inst
[24]
NEI
[25]
Natl Inst Dent & Craniofacial Res
[26]
Radiol & Imaging Sci,Natl Inst Hlth Clin Ctr
[27]
Sect Histopathol,NEI
[28]
Natl Inst Neurol Disorders & Stroke
[29]
Natl Inst Diabet & Digest & Kidney Dis
[30]
Dermatol Branch,Natl Inst Arthrit & Musculoskeletal & Skin Dis
[31]
NCI
[32]
Undiagnosed Dis Program
[33]
NHLBI
[34]
OD PC Colonial Hts,Gilbert & Farley
[35]
Ctr Genom Med,Massachusetts Gen Hosp
[36]
发布时间
2023-01-07
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Annals of the Rheumatic Diseases
Annals of the Rheumatic Diseases
1453-1464页
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