Now showing items 1-10 of 16
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
(Springer-Verlag; IPNA, 2003-06)
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here ...
Gene expression of the insulin-like growth factors and their receptors in cultured human retinal pigment epithelial cells
(Elsevier, 1992-01)
Insulin-like growth factors I and II (IGF I and II) are polypeptides with both growth-promoting and insulin-like metabolic effects16,27. Immunoreactive IGF I is present in the retina14 and both IGF I and II are present in ...
Gene expression of the insulin-like growth factors and their receptors in human neuroblastoma cell lines
(Elsevier, 1992-10)
Insulin-like growth factors (IGF) I and II are polypeptides with both growth-promoting and insulin-like metabolic effects. The developmentally specific expression of IGF I and II in the nervous system implies a role for ...
Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men Anna M. Ray and Kimberly A. Zuhlke contributed equally to this work.
(Wiley Subscription Services, Inc., A Wiley Company, 2009-06-15)
BACKGROUND Previous studies have found associations between mitochondrial DNA (mtDNA) mutations and several cancer types. Recently, we found that mutations in the mtDNA gene cytochrome c oxidase subunit 1 ( COI ) were ...
Insulin resistance in H-35 rat hepatoma cells is mediated by post-receptor mechanisms
(Elsevier, 1983-09)
Incubation of H-35 cells with 300 ng/ml (50 nM) of insulin causes a 3-4-fold induction of tyrosine aminotransferase at 4-6 h of incubation. At 24 h the activity of transaminase returns to basal levels despite the presence ...
Expression of Corticotropin-Releasing Hormone Transgenes in Neurons of Adult and Developing Mice
(Elsevier, 1994-12)
The DNA sequences important for cell-specific expression and developmental regulation of corticotropin-releasing hormone (CRH) were analyzed in transgenic mice. A construct containing 0.5 kb of CRH 5' flanking DNA linked ...
Sequence variation in Α-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer
(Wiley Subscription Services, Inc., A Wiley Company, 2007-10-01)
BACKGROUND Expression of the Α-methylacyl-CoA racemase ( AMACR ) gene has been established as a sensitive and specific biomarker for the diagnosis of prostate cancer. An initial study has also suggested that the risk of ...
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
(Blackwell Publishing Ltd, 2007-08)
Objective ACTH resistance is a feature of several human syndromes with known genetic causes, including familial glucocorticoid deficiency (types 1 and 2) and triple A syndrome. However, many patients with ACTH resistance ...
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
(Springer-Verlag; IPNA, 2006-01)
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal ...
Translocation t(3;8)(p14.2;q24.1) in renal cell carcinoma affects expression of the common fragile site at 3p14(FRA3B) in lymphocytes
(Elsevier, 1988-03)
The common fragile site at 3p14(FRA3B) is cytogenetically close to the positions of translocation and deletion breakpoints frequently observed in renal cell carcinoma (RCC) and small cell carcinoma of the lung. Possible ...