Condition: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER


rs121913080 in FAS gene and RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER PMID 9927496 1999 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

PMID 10090885 1999 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

PMID 22237435 2012 Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

PMID 10875918 2000 Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.

PMID 15459303 2004 Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

PMID 23407489 2013 Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing?

rs104894366 in KRAS gene and RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

rs121434596 in NRAS gene and RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER PMID 17517660 2007 NRAS mutation causes a human autoimmune lymphoproliferative syndrome.