CTLA4 Haploinsufficiency

Known as: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION, CHAI, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V 
A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
BACKGROUND 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by… (More)
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2011
2011
BACKGROUND Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation… (More)
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Highly Cited
2009
Highly Cited
2009
Transformation to acute leukemia is a major complication of myeloproliferative neoplasms (MPNs), however, the genetic changes… (More)
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2009
Highly Cited
2007
Highly Cited
2007
BACKGROUND The progranulin gene (GRN) is mutated in 5-10% of patients with frontotemporal lobar degeneration (FTLD) and in about… (More)
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Highly Cited
2006
Highly Cited
2006
FoxG1 (formerly BF-1) encodes a transcription factor that regulates neurogenesis in the embryonic telencephalon. The current… (More)
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2005
2005
Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9… (More)
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Highly Cited
2004
Highly Cited
2004
A compromised spindle checkpoint is thought to play a key role in genetic instability that predisposes cells to malignant… (More)
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Highly Cited
2003
Highly Cited
2003
The physiologic function of BUBR1, a key component of the spindle checkpoint, was examined by generating BUBR1-mutant mice. BUBR1… (More)
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