JAK3base mutation publications [2007] [2005] [2004] [2001] [2000] [1999] [1998] [1997] [1996] [1995] [1976] Search PubMed latest citations for JAK3 mutations 2007 A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency. Mjaanes CM, Hendershot RW, Quinones RR, Gelfand EW J Allergy Clin Immunol 2007(6): 1542-5 [PubMed abstract]. 2005 A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency. Uchiyama T, Kumaki S, Fujiwara M, Nishida Y, Hakozaki I, Imai K, Du W, Yoshinari M, Sasahara Y, Tsuchiya S Pediatr Int 2005(5): 575-8 [PubMed abstract]. 2004 Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Roberts JL, Lengi A, Brown SM, Chen M, Zhou YJ, O'Shea JJ, Buckley RH Blood 2004(6): 2009-18 [PubMed abstract]. Jak3 and the pathogenesis of severe combined immunodeficiency. O'Shea JJ, Husa M, Li D, Hofmann SR, Watford W, Roberts JL, Buckley RH, Changelian P, Candotti F Mol Immunol 2004(6-7): 727-37 [PubMed abstract]. 2001 Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD Hum Mutat 2001(4): 355-6 [PubMed abstract]. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF Hum Mutat 2001(4): 255-63 [PubMed abstract]. Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases. Zhou YJ, Chen M, Cusack NA, Kimmel LH, Magnuson KS, Boyd JG, Lin W, Roberts JL, Lengi A, Buckley RH, Geahlen RL, Candotti F, Gadina M, Changelian PS, O'Shea JJ Mol Cell 2001(5): 959-69 [PubMed abstract]. 2000 Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency. Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo LD Clin Immunol 2000(2): 108-18 [PubMed abstract]. Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD Hum Genet 2000(1): 73-9 [PubMed abstract]. Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains. Chen M, Cheng A, Candotti F, Zhou YJ, Hymel A, Fasth A, Notarangelo LD, O'Shea JJ Mol Cell Biol 2000(3): 947-56 [PubMed abstract]. 1999 Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain. Cacalano NA, Migone TS, Bazan F, Hanson EP, Chen M, Candotti F, O'Shea JJ, Johnston JA EMBO J 1999(6): 1549-58 [PubMed abstract]. Prenatal diagnosis of JAK3 deficient SCID. Schumacher RF, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo LD Prenat Diagn 1999(7): 653-6 [PubMed abstract]. 1998 Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F Br J Haematol 1998(5): 1363-6 [PubMed abstract]. 1997 Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A Blood 1997(10): 3996-4003 [PubMed abstract]. 1996 Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene. Villa A, Sironi M, Macchi P, Matteucci C, Notarangelo LD, Vezzoni P, Mantovani A Blood 1996(3): 817-23 [PubMed abstract]. 1995 Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ Science 1995(5237): 797-800 [PubMed abstract]. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ Nature 1995(6544): 65-8 [PubMed abstract]. 1976 Immunologic reconstitution in severe combined immunodeficiency following transplantation with parental bone marrow. Geha RS, Malakian A, LeFranc G, Chayban D, Serre JL Pediatrics 1976(3): 451-5 [PubMed abstract].