Affiliation: Cincinnati Children's Hospital Medical Center
- Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLHKejian Zhang
Division of Human Genetics, Children s Hospital Medical Center, University of Cincinnati College of Medicie, Cincinnati, OH 45229, USA
Blood 118:5794-8. 2011..We conclude that late-onset familial HLH occurs more commonly than was suspected previously...
- Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defectsK Zhang
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, OH 45255, USA
Int J Immunogenet 34:231-3. 2007
- Functional characterization of CD4+CD25+ regulatory T cells differentiated in vitro from bone marrow-derived haematopoietic cells of psoriasis patients with a family history of the disorderK Zhang
Institute of Dermatology, Taiyuan City Centre Hospital, Affiliated to Shanxi Medical University, No 1 Dong San Dao Xiang, Taiyuan City, Shanxi Province 030009, China
Br J Dermatol 158:298-305. 2008..It is reasonable to speculate that the dysfunctional activity of CD4+CD25+ regulatory cells may originate partly from the abnormal haematopoietic cells determined mainly by genetic background...
- A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek familyZ Yang
J Med Genet 43:e57. 2006..To describe the clinical features of and genetic locus associated with autosomal-dominant macular dystrophy (MCDR5) in a large Greek family...
- Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosisS Molleran Lee
J Med Genet 41:137-44. 2004
- Association between apolipoprotein CI HpaI polymorphism and sporadic Alzheimer's disease in ChineseJ Shi
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China
Acta Neurol Scand 109:140-5. 2004..To investigate into the relationship of apolipoprotein CI (ApoCI) polymorphism with sporadic Alzheimer's disease (AD) in Chinese...
- Dopamine depletion abolishes apomorphine- and amphetamine-induced increases in extracellular serotonin levels in the striatum of conscious rats: a microdialysis studyA Balcioglu
Neuroregeneration Laboratories, McLean Hospital, Harvard Medical School, 115 Mill Street, Belmont, MA 02478, USA
Neuroscience 119:1045-53. 2003..Addressing whether this impairment has significance in the onset of PD might lead to development of new strategies to manage parkinsonian symptoms...
- The power of transmission disequilibrium tests for quantitative traitsJ Li
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut, USA
Genet Epidemiol 21:S632-7. 2001..Finally, we apply these methods to the Genetic Analysis Workshop 12 simulated data and compare their power...
- Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophyS E Wilkie
Division of Molecular Genetics, Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom
Am J Hum Genet 69:471-80. 2001..The overall effect of this would be the constitutive activation of guanylate cyclase in photoreceptors, even at the high Ca2+ concentrations of the dark-adapted state, which may explain the dominant disease phenotype...
- A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34K Zhang
Department of Genetics, Brigham and Women s Hospital, Boston, Mass
Arch Ophthalmol 112:759-64. 1994..To identify the chromosomal location of a mutated gene that causes an autosomal dominant Stargardt's macular dystrophy...
- CD58 (LFA-3) stimulation provides a signal for human isotype switching and IgE production distinct from CD40D Diaz-Sanchez
Hart and Louise Lyon Laboratory, Department of Medicine, UCLA School of Medicine 90024 1680
J Immunol 153:10-20. 1994..Given the relative importance of CD2 triggering on mucosal T cells and the mucosal location of IgE production, this may be especially true on mucosal surfaces...