A5003348266- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Trace Elements in Health
- BRCA gene mutations in cancer
- Folate and B Vitamins Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Inflammatory Bowel Disease
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- Sexual Differentiation and Disorders
- Liver Disease and Transplantation
- Ethics and Legal Issues in Pediatric Healthcare
- Genetic Associations and Epidemiology
- RNA and protein synthesis mechanisms
- Muscle Physiology and Disorders
- Venous Thromboembolism Diagnosis and Management
- Child Nutrition and Water Access
- Animal Genetics and Reproduction
- DNA Repair Mechanisms
- Metabolism and Genetic Disorders
- Liver Disease Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
Universitätsklinikum Tübingen
2025
University College London
2005-2019
Imperial College Healthcare NHS Trust
2017
Institute for Biomedicine
2017
Imperial College London
2017
Eurac Research
2017
British Heart Foundation
2015
UC Irvine Health
2011
University of California, Irvine
1990-2009
Medical Research Council
2009
The cause of Crohn's disease (CD) remains poorly understood. Counterintuitively, these patients possess an impaired acute inflammatory response, which could result in delayed clearance bacteria penetrating the lining bowel and predispose to granuloma formation chronicity. We tested this hypothesis human subjects by monitoring responses killed Escherichia coli injected subcutaneously into forearm. Accumulation 111In-labeled neutrophils at sites 32P-labeled from them were markedly CD. Locally...
Cognitive impairment occurs in one-third of patients with Duchenne muscular dystrophy, a lethal X-linked, recessive disease caused by mutations the dystrophin gene which is expressed both brain and muscle, two transcripts having alternative first exons. Previous reports have indicated that 'brain-type' transcript predominates brain. Using situ hybridisation antisense oligonucleotides, expression four distinct mRNAs specific areas demonstrated here; 14 kb muscle-type brain-type were found to...
Journal Article WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia Get access Jonathan M.J. Derry, Derry 1Howard Hughes Medical InstituteStanford, CA 94305 Search for other works by this author on: Oxford Academic PubMed Google Scholar Julie A. Kerns, Kerns Kenneth I. Weinberg, Weinberg 3Division of Research Immunology Bone Marrow Transplantation, Childrens Hospital Los AngelesLos Angeles, 90027 Hans D. Ochs, Ochs 4Department Pediatrics, University Washington...
Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there any causal effect of iron on risk coronary artery disease (CAD).A 2-sample approach used estimate CAD risk. Three loci (rs1800562 and rs1799945 HFE gene rs855791 TMPRSS6) are each associated with serum iron, transferrin saturation, ferritin, pattern suggestive an association systemic as instruments. SNP (single-nucleotide...
Background Iron is integral to many physiological processes, and variations in its levels, even within the normal range, can have implications for health. The objective of this study was explore broad clinical effects varying iron status. Methods findings Genome-wide association (GWAS) summary data obtained from 48,972 European individuals (55% female) across 19 cohorts Genetics Status Consortium were used identify 3 genetic variants (rs1800562 rs1799945 hemochromatosis gene [HFE] rs855791...
A human gene with strong homology to the MAGE family located in Xq27-qter has been isolated by using exon-trapping of cosmids Xp21.3 region. We have mapped and sequenced cDNA genomic clones corresponding this gene, MAGE-Xp, shown that last exon contains open reading frame is present a minimum five copies 30-kb interval. MAGE-Xp expressed only testis and, unlike genes, it not any 12 different tumor tissues tested. However, predicted protein structure are conserved, suggesting similar...
Crohn's disease is a chronic inflammatory condition largely affecting the terminal ileum and large bowel. A contributing cause failure of an adequate acute response as result impaired secretion pro-inflammatory cytokines by macrophages. This defective arises from aberrant vesicle trafficking, misdirecting to lysosomal degradation. Aberrant intestinal permeability also well-established in disease. Both disordered trafficking increased bowel could abnormal lipid composition. We thus measured...
Recent work provides evidence of a failure acute inflammation in Crohn's disease (CD), and suggests that the primary defect operates at level macrophage cytokine release. Here we extend characterization innate immune CD by investigating response to Toll-like receptor (TLR) agonists assess potential links between genome-wide association study (GWAS) susceptibility loci, phenotype, therapeutic regimens on tumor necrosis factor α (TNF) release.Peripheral blood-derived macrophages were cultured...
The gene for human glycerol kinase deficiency (GK) maps in Xp21.3 a critical region of about 50–250 kb located distal to the Duchenne muscular dystrophy (DMD) by analysis patient deletions and YAC contigs. We have used genomic exon amplification strategy isolate potential exons from two cosmids which mapped this interval. were six overlapping cDNA clones fetal liver encode X-linked gene. map cosmids, patients define GK also hybridize several autosomal fragments one Xq fragment DNA. is...
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), proximal DXS28 (C7), by analysis of patient deletions.We have constructed a yeast artificial chromosome (YAC) contig encompassing 1.2 Mb region extending distally from DMD, containing DXS708 (JC-1), the junction clone with GK DMD.A pulsed-field gel electrophoresis YAC identified 3 potential CpG islands.Whole hybridization cosmids both construction...