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Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
The purposes of this study were to determine the frequency of mutations in SH2D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr virus (EBV) infectionExpand
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Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele
Type 1 diabetes (T1D; or insulin-dependent diabetes mellitus, IDDM) is an autoimmune disease with both genetic and environmental components. In addition to the human leukocyte antigen (HLA) complex,Expand
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Polymorphisms in cytokine genes define subpopulations of HIV-1 patients who experienced immune restoration diseases
Objective: To further elucidate the immunopathogenesis of immune restoration diseases (IRD) in HIV patients responding to antiretroviral therapy and determine whether IRD associated with differentExpand
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Association of IL12B promoter polymorphism with severity of atopic and non-atopic asthma in children
BACKGROUND Severe asthma is a frequent cause of hospital admission, especially among children. The main environmental triggers of airway inflammation in asthma are viruses and aeroallergens. TheseExpand
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Markers on Distal Chromosome 2q Linked to Insulin-Dependent Diabetes Mellitus
Insulin-dependent diabetes mellitus (IDDM) is a multigenic autoimmune disease. An IDDM susceptibility gene was mapped to chromosome 2q34. This gene may act early in diabetogenesis, becauseExpand
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Alleles of the IL12B 3'UTR associate with late onset of type 1 diabetes.
Carriage of a polymorphism in the 3'untranslated region of the IL12B gene encoding IL-12p40 was investigated in subjects with type 1 diabetes mellitus stratified by age at diagnosis (n = 648) andExpand
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Patterns of dental wear in the early Maori dentition
The levels of tooth wear were surveyed in 50 pre-contact Maori skulls (23 of them female) from New Zealand. In addition to a generalized tooth wear index, we evaluated occlusal wear for erosion andExpand
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Genetic and physiological association of diabetes susceptibility with raised Na+/H+ exchange activity.
Insulin-dependent diabetes mellitus is a multigenic autoimmune disease, for which one of the best animal models is the nonobese diabetic (NOD) mouse strain. In both humans and NOD mice, majorExpand
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Generation of activation-specific human anti-αMβ2 single-chain antibodies as potential diagnostic tools and therapeutic agents
The leukocyte integrin Mac-1 (αMβ2) plays a pivotal role in inflammation and host defense. Upon leukocyte activation, Mac-1 undergoes a conformational change exposing interaction sites for multipleExpand
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Ndrg1 in development and maintenance of the myelin sheath
CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1).Expand
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