SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

Known as: SPENCDI, SPENCD, ROIFMAN IMMUNOSKELETAL SYNDROME 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2006-2015
01220062015

Papers overview

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Review
2016
Review
2016
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey… (More)
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Review
2016
Review
2016
Tracy A. Briggs & Gillian I. Rice & Navid Adib & Lesley Ades & Stephane Barete & Kannan Baskar & Veronique Baudouin & Ayse N… (More)
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2015
2015
Karyopherin alpha 2 (KPNA2) is a nuclear transport protein upregulated in many cancers. Our previous study has identified KPNA2… (More)
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2012
2012
BACKGROUND The extracellular matrix (ECM) is a potentially important component of mucosal immunity. ECM dysregulation in chronic… (More)
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Review
2012
Review
2012
Monogenic autoimmune syndromes provide a rare yet powerful glimpse into the fundamental mechanisms of immunologic tolerance. Such… (More)
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Review
2010
Review
2010
Genomic imprinting is an epigenetic process by which the male and the female germ line confer specific marks (imprints) onto… (More)
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2006
2006
The tumor suppressor KLF6 is a member of the Krüppel-like family of transcription factors, which has been implicated in the… (More)
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