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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) infection… Expand
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
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 different… Expand
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. These… Expand
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, because… Expand
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) and… Expand
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 and… Expand
Genetic and physiological association of diabetes susceptibility with raised Na+/H+ exchange activity.
- G. Morahan, P. McClive, D. Huang, P. Little, A. Baxter
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 21 June 1994
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, major… Expand
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 multiple… Expand
Ndrg1 in development and maintenance of the myelin sheath
- R. King, D. Chandler, S. Lopaticki, D. Huang, L. Kalaydjieva
- Biology, Medicine
- Neurobiology of Disease
- 1 June 2011
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