BACKGROUND Little is known about the genetic and epigenetic changes that contribute to familial pancreatic cancers. The aim of this study was to compare the prevalence of common genetic and epigenetic alterations in sporadic and familial pancreatic ductal adenocarcinomas. METHODS DNA was isolated from the microdissected cancers of 39 patients with familial and 36 patients with sporadic pancre...

BACKGROUND Photoaging is cumulative damage to skin, caused by chronic, repeated solar radiation exposure. Its molecular mechanisms are poorly understood at the level of global gene expression. OBJECTIVE This study set out to uncover genes and functional modules involved in photoaging at the level of transcription, with the use of skin samples from Chinese women. METHODS Using the Illumina m...

Human dilated cardiomyopathy (DCM) is characterized by congestive heart failure and altered myocardial gene expression. Epigenetic changes, including DNA methylation, are implicated in the development of DCM but have not been studied extensively. Clinical human DCM and nonfailing control left ventricle samples were individually analyzed for DNA methylation and expressional changes. Expression m...

RATIONALE DNA methylation is an important epigenetic mechanism, which often occurs in response to environmental stimuli and is crucial in regulating gene expression. It is likely that epigenetic alterations contribute to pathogenesis in idiopathic pulmonary fibrosis (IPF). OBJECTIVES To determine the DNA methylation changes in IPF and their effects on gene expression. METHODS Total DNA meth...

See Aubourg (doi:10.1093/awv271) for a scientific commentary on this article.X-linked adrenoleukodystrophy is caused by mutations in the ABCD1 gene leading to accumulation of very long chain fatty acids. Its most severe neurological manifestation is cerebral adrenoleukodystrophy. Here we demonstrate that progressive inflammatory demyelination in cerebral adrenoleukodystrophy coincides with bloo...

BACKGROUND—Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting. METHODS—We conducted genome-wide association studies for paragraph or word list delayed recall in 19 cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiolo...

Homozygous mice overexpressing Claudin-6 (Cldn6) exhibit a perturbation in the epidermal differentiation program leading to a defective epidermal permeability barrier (EPB) and dehydration induced death ensuing within 48 h of birth [Turksen, K., Troy, T.C., 2002. Permeability barrier dysfunction in transgenic mice overexpressing claudin 6. Development 129, 1775-1784]. Their heterozygous counter...

Abstract Study question Can Biosilk be used as scaffold for establishing a 3D-culture system to support attachment and growth of primary cells derived from adult ovarian biopsies? Summary answer The use recombinant spider silk-based allowed the formation 3D-structured ovarioids both cortex medulla isolated 5 different patients. What is known already Fertility in women adversely affected by seve...

tem, where distal lung tissue from E18.5 Glucocorticoid Receptor (GR)–null mice have been exposed to at-RA. Whole genome microarrays and quantitative Real-time PCR have been utilized to identify and confirm GR-antagonised RA-responsive genes. Only the common rarb2/4 transcript and tcf15 (paraxis) were found to match this criteria. We propose that the antagonistic effects on alveolarisation by G...