Affiliation: Medical College of Wisconsin
- Recent insights into the Smith-Lemli-Opitz syndromeH Yu
Division of Endocrinology, Metabolism and Nutrition, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Clin Genet 68:383-91. 2005..This mini review summarizes the recent insights into SLOS genetics, pathophysiology and potential therapeutic approaches for the treatment of SLOS...
- Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndromeH Yu
Division of Endocrinology, Diabetes and Medical Genetics, Department of Medicine, Medical University of South Carolina, STR 541, 114 Doughty Street, Charleston, SC 29403, USA
Hum Mol Genet 9:1385-91. 2000..We estimate that between 33 and 42% of the variation in the SLOS severity score is accounted for by variation in plasma cholesterol. Thus, factors other than plasma cholesterol are additionally involved in determining severity...
- Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorptionM H Lee
Division of Endocrinology, Diabetes and Medical Genetics, Medical University of South Carolina, Charleston, South Carolina, USA
Nat Genet 27:79-83. 2001..H.L. et al., manuscript submitted). We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients...
- Analysis of promoters controlled by the putative sigma factor AlgU regulating conversion to mucoidy in Pseudomonas aeruginosa: relationship to sigma E and stress responseD W Martin
Department of Microbiology, University of Texas Health Science Center at San Antonio, 78284 7758
J Bacteriol 176:6688-96. 1994..typhimurium was cloned and sequenced, and it is displayed one amino acid substitution relative to its E. coli equivalent. AlgU and its close homologs in E. coli and S. typhimurium may be functionally related...
- A new spontaneous mutation in the mouse protocadherin 15 geneQ Y Zheng
Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
Hear Res 219:110-20. 2006..Since these animals show severe functional deficits but have relatively mild stereocilia defects at a young age they may provide an appropriate model to test for a direct role of Pcdh15 in mechanotransduction...
- Mapping quantitative trait loci that influence blood levels of alkaline phosphatase in MRL/MpJ and SJL/J miceA K Srivastava
Musculoskeletal Disease Center, JLP VA Medical Center, Loma Linda, CA, 92357, USA
Bone 35:1086-94. 2004..The findings that ALP and BMD traits share the same loci on chromosome 6 suggest a role for genetic determinants of bone formation in overall BMD accretion...
- Polymorphism of the insulin gene is associated with increased prostate cancer riskG Y F Ho
Department of Epidemiology and Social Medicine, Albert Eistein College of Medicine, Bronx, New York, NY 10461, USA
Br J Cancer 88:263-9. 2003....
- [Analysis of the nucleotide sequence for C and NS5 regions and the genotype of HCV isolate in Shandong Province]W Zhang
Key Laboratory of Molecular Virology, Medical College of Qingdao University, Qiangdao 266021, China
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi 15:219-21. 2001..The homology of nucleotide sequence was over 90% compared with that of more than 50 strains in Gen Bank. CONCLUSIONS: The major genotype of HCV epidemic strains in Shandong Province is 1b. The 2a genotype is also found in this area...
- Polymorphic CA repeats in the IGF-I gene and breast cancerH Yu
Feist Weiller Cancer Center and Department of Medicine, Louisiana State University Health Sciences Center, Shreveport 71130 3932, USA
Breast Cancer Res Treat 70:117-22. 2001..If our observations can be confirmed in larger studies, the findings will provide further evidence to support the role of IGF-I in breast cancer and the link between genetic polymorphism and cancer susceptibility...
- 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndromeB U Fitzky
Institute of Biochemical Pharmacology, Innsbruck, Austria
J Clin Invest 108:905-15. 2001..This effect might exacerbate abnormal development in SLOS by increasing the fetal cholesterol deficiency...
- Myosin Va bound to phagosomes binds to F-actin and delays microtubule-dependent motilityA Al-Haddad
, FB Biowissenschaften, , D-18051 Rostock, Germany
Mol Biol Cell 12:2742-55. 2001..We propose an "antagonistic/cooperative mechanism" to explain the saltatory phagosome movement toward the cell center in normal macrophages...
- Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and systemic lupus erythematosusK M Kaufman
Arthritis and Immunology Program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA
Mol Cell Endocrinol 177:81-5. 2001..We were unable to detect significant linkage or genetic association between the ACE gene and SLE...
- Association of a 27-bp repeat polymorphism in ecNOS gene with ischemic stroke in Chinese patientsL Hou
Graduate School of Medicine, University of Tsukuba, Ibaraki Ken, Japan
Neurology 56:490-6. 2001..To investigate the association between a 27-bp repeat polymorphism of the ecNOS gene in 364 patients with ischemic stroke and 516 control subjects...
- Development and applications of a complete set of rice telotrisomicsZ Cheng
Yangzhou University, Yangzhou 225009, People's Republic of China
Genetics 157:361-8. 2001..We also showed that telotrisomics are valuable tools for chromosome microdissection and for developing chromosome-specific DNA markers...
- Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body massA S Chen
Department of Obesity Research, Merck Research Laboratories, Rahway, New Jersey, USA
Nat Genet 26:97-102. 2000..Mice lacking both Mc3r and Mc4r become significantly heavier than Mc4r(-/-) mice. We conclude that Mc3r and Mc4r serve non-redundant roles in the regulation of energy homeostasis...
- Innate lung defenses and compromised Pseudomonas aeruginosa clearance in the malnourished mouse model of respiratory infections in cystic fibrosisH Yu
Departments of Microbiology, University of Michigan Medical School, Ann Arbor, Michigan, USA
Infect Immun 68:2142-7. 2000....
- TGF-beta1 genotype and phenotype in breast cancer and their associations with IGFs and patient survivalL Mu
Department of Epidemiology and Public Health, Yale Cancer Center, Yale University School of Medicine, New Haven, CT 06520 8034, USA
Br J Cancer 99:1357-63. 2008..The study suggests a complex role of TGF-beta1 in breast cancer progression, which supports the finding of in vitro studies that TGF-beta1 has conflicting effects on tumour growth and metastasis...