Mutations in the Tyrosine-Protein Kinase Lyn Cause an Early-Onset Neutrophilic Vasculitis Syndrome

被引：0

作者：

de Jesus, Adriana Almeida ^{[1
]}

Montealegre, Gina A. ^{[1
]}

Freeman, Helen ^{[2
]}

Martin, Neil ^{[3
]}

Omoyinmi, Ebun ^{[4
]}

Marrero, Bernadette ^{[1
]}

Calvo, Katherine R. ^{[5
]}

Lee, Chyi-Chia Richard ^{[6
]}

Brundidge, April D. ^{[7
]}

Kleiner, David ^{[8
]}

Hewitt, Stephen ^{[8
]}

Chapelle, Dawn C. ^{[7
]}

Huang, Yan ^{[1
]}

Shah, Nirali ^{[8
]}

Brooks, Stephen ^{[7
]}

Meffre, Eric ^{[9
]}

Brogan, Paul ^{[4
,10
]}

Kuehn, Hyesun ^{[11
]}

Rosenzweig, Sergio ^{[12
]}

Merchant, Melinda ^{[8
]}

Deng, Zuoming ^{[7
]}

Moir, Susan ^{[1
]}

Goldbach-Mansky, Raphaela ^{[13
]}

机构：

[1] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[2] Raigrnore Hosp, Inverness, Scotland

[3] Royal Hosp Children, Glasgow, Lanark, Scotland

[4] UCL, Inst Child Hlth, London, England

[5] NIH, Dept Lab Med, Hematol Sect, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA

[6] NCI, Dermatopathol Sect, Pathol Lab, NIH, Bethesda, MD 20892 USA

[7] NIAMS, NIH, Bethesda, MD USA

[8] NCI, NIH, Bethesda, MD 20892 USA

[9] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA

[10] Great Ormond St Hosp NHS Fdn Trust, London, England

[11] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA

[12] NIH, Dept Lab Med, Bldg 10, Bethesda, MD 20892 USA

[13] NIAID, Translat Autoinflammatory Dis Studies, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

来源：

ARTHRITIS & RHEUMATOLOGY | 2016年 / 68卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

2430

引用

页数：3

共 50 条

[41] A protein kinase C theta mutation causes early-onset exudative retinal detachment
Ji, Xiaojie
Liu, Ye
Hurd, Ron
Wang, Jieping
FitzMaurice, Bernard
Naggert, Jurgen
Nishina, Patsy M.
Chang, Bo
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
[42] Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
van de laar, Ingrid M. B. H.
Oldenburg, Rogier A.
Pals, Gerard
Roos-Hesselink, Jolien W.
de Graaf, Bianca M.
Verhagen, Judith M. A.
Hoedemaekers, Yvonne M.
Willemsen, Rob
Severijnen, Lies-Anne
Venselaar, Hanka
Vriend, Gert
Pattynama, Peter M.
Collee, Margriet
Majoor-Krakauer, Danielle
Poldermans, Don
Frohn-Mulder, Ingrid M. E.
Micha, Dimitra
Timmermans, Janneke
Hilhorst-Hofstee, Yvonne
Bierma-Zeinstra, Sita M.
Willems, Patrick J.
Kros, Johan M.
Oei, Edwin H. G.
Oostra, Ben A.
Wessels, Marja W.
Bertoli-Avella, Aida M.
NATURE GENETICS, 2011, 43 (02) : 121 - U65
[43] High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Corton, Marta
Tatu, Sorina D.
Avila-Fernandez, Almudena
Vallespin, Elena
Tapias, Ignacio
Cantalapiedra, Diego
Blanco-Kelly, Fiona
Riveiro-Alvarez, Rosa
Bernal, Sara
Garcia-Sandoval, Blanca
Baiget, Montserrat
Ayuso, Carmen
ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
[44] Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Ait-El-Mkadem, Samira
Dayem-Quere, Manal
Gusic, Mirjana
Chaussenot, Annabelle
Bannwarth, Sylvie
Francois, Berengere
Genin, Emmanuelle C.
Fragaki, Konstantina
Volker-Touw, Catharina L. M.
Vasnier, Christelle
Serre, Valerie
van Gassen, Koen L. I.
Lespinasse, Francoise
Richter, Susan
Eisenhofer, Graeme
Rouzier, Cecile
Mochel, Fanny
De Saint-Martin, Anne
Warde, Marie-Therese Abi
de Sain-van der Velde, Monique G. M.
Jans, Judith J. M.
Amiel, Jeanne
Avsec, Ziga
Mertes, Christian
Haack, Tobias B.
Strom, Tim
Meitinger, Thomas
Bonnen, Penelope E.
Taylor, Robert W.
Gagneur, Julien
van Hasselt, Peter M.
Rotig, Agnes
Delahodde, Agnes
Prokisch, Holger
Fuchs, Sabine A.
Paquis-Flucklinger, Veronique
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 151 - 159
[45] High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Marta Corton
Sorina D Tatu
Almudena Avila-Fernandez
Elena Vallespín
Ignacio Tapias
Diego Cantalapiedra
Fiona Blanco-Kelly
Rosa Riveiro-Alvarez
Sara Bernal
Blanca García-Sandoval
Montserrat Baiget
Carmen Ayuso
Orphanet Journal of Rare Diseases, 8
[46] Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors
Wei, Zhe
Li, Shanshan
Tao, Xiaohui
Zhu, Guoying
Sun, Zhenkui
Wei, Zhanying
Jiao, Qiong
Zhang, Huizhen
Chen, Lin
Li, Baojie
Zhang, Zhenlin
Yue, Hua
JOURNAL OF BONE AND MINERAL RESEARCH, 2021, 36 (06) : 1088 - 1103
[47] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Meyer, Esther
Carss, Keren J.
Rankin, Julia
Nichols, John M. E.
Grozeva, Detelina
Joseph, Agnel P.
Mencacci, Niccolo E.
Papandreou, Apostolos
Ng, Joanne
Barra, Serena
Ngoh, Adeline
Ben-Pazi, Hilla
Willemsen, Michel A.
Arkadir, David
Barnicoat, Angela
Bergman, Hagai
Bhate, Sanjay
Boys, Amber
Darin, Niklas
Foulds, Nicola
Gutowski, Nicholas
Hills, Alison
Houlden, Henry
Hurst, Jane A.
Israe, Zvi
Kaminska, Margaret
Limousin, Patricia
Lumsden, Daniel
Mckee, Shane
Misra, Shibalik
Mohammed, Shekeeb S.
Nakou, Vasiliki
Nicolai, Joost
Nilsson, Magnus
Pall, Hardev
Peall, Kathryn J.
Peters, Gregory B.
Prabhakar, Prab
Reuter, Miriam S.
Rump, Patrick
Sege, Reeval
Sinnema, Margje
Smith, Martin
Turnpenny, Peter
White, Susan M.
Wieczorek, Dagmar
Wiethoff, Sarah
Wilson, Brian T.
Winter, Gidon
Wragg, Christopher
NATURE GENETICS, 2017, 49 (02) : 223 - 237
[48] LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Olahova, Monika
Hardy, Steven A.
Hall, Julie
Yarham, John W.
Haack, Tobias B.
Wilson, William C.
Alston, Charlotte L.
He, Langping
Aznauryan, Erik
Brown, Ruth M.
Brown, Garry K.
Morris, Andrew A. M.
Mundy, Helen
Broomfield, Alex
Barbosa, Ines A.
Simpson, Michael A.
Deshpande, Charu
Moeslinger, Dorothea
Koch, Johannes
Stettner, Georg M.
Bonnen, Penelope E.
Prokisch, Holger
Lightowlers, Robert N.
McFarland, Robert
Chrzanowska-Lightowlers, Zofia M. A.
Taylor, Robert W.
BRAIN, 2015, 138 : 3503 - 3519
[49] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer
Keren J Carss
Julia Rankin
John M E Nichols
Detelina Grozeva
Agnel P Joseph
Niccolo E Mencacci
Apostolos Papandreou
Joanne Ng
Serena Barral
Adeline Ngoh
Hilla Ben-Pazi
Michel A Willemsen
David Arkadir
Angela Barnicoat
Hagai Bergman
Sanjay Bhate
Amber Boys
Niklas Darin
Nicola Foulds
Nicholas Gutowski
Alison Hills
Henry Houlden
Jane A Hurst
Zvi Israel
Margaret Kaminska
Patricia Limousin
Daniel Lumsden
Shane McKee
Shibalik Misra
Shekeeb S Mohammed
Vasiliki Nakou
Joost Nicolai
Magnus Nilsson
Hardev Pall
Kathryn J Peall
Gregory B Peters
Prab Prabhakar
Miriam S Reuter
Patrick Rump
Reeval Segel
Margje Sinnema
Martin Smith
Peter Turnpenny
Susan M White
Dagmar Wieczorek
Sarah Wiethoff
Brian T Wilson
Gidon Winter
Christopher Wragg
Nature Genetics, 2017, 49 : 223 - 237
[50] Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
Laugel, Vincent
This-Bernd, Valerie
Cormier-Daire, Valerie
Speeg-Schatz, Claude
de Saint-Martin, Anne
Fischbach, Michel
PEDIATRIC NEUROLOGY, 2007, 36 (01) : 54 - 57

← 1 2 3 4 5 →