A5054514100- Genetic Associations and Epidemiology
- Genetic and Kidney Cyst Diseases
- Birth, Development, and Health
- Hedgehog Signaling Pathway Studies
- Metabolism, Diabetes, and Cancer
- Autoimmune and Inflammatory Disorders Research
- Genetic Syndromes and Imprinting
- Pancreatic function and diabetes
- Child Nutrition and Feeding Issues
- Metabolism and Genetic Disorders
- Digestive system and related health
- Obesity, Physical Activity, Diet
- Genomics and Rare Diseases
- RNA Research and Splicing
- Blood groups and transfusion
- Apelin-related biomedical research
- Food Allergy and Anaphylaxis Research
- Folate and B Vitamins Research
- RNA regulation and disease
- Congenital heart defects research
- Escherichia coli research studies
- Clinical Reasoning and Diagnostic Skills
- Salmonella and Campylobacter epidemiology
- Paraoxonase enzyme and polymorphisms
- Healthcare cost, quality, practices
Target (United States)
2022
Arthritis Society
2022
Hospital for Sick Children
2013-2016
SickKids Foundation
2015
Robarts Clinical Trials
2007-2013
Western University
2006-2013
Abstract Iron‐sulfur (Fe‐S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins contain them, Fe‐S proteins, to assist in various key biochemical pathways. Mutations often disrupt cluster assembly leading spectrum severe disorders such as Friedreich's ataxia or iron‐sulfur enzyme (ISCU) myopathy. Herein, we describe infantile mitochondrial complex II / III deficiency, novel autosomal recessive disease characterized...
Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) polydactyly syndromes, hydrolethalus syndrome. In this study, we present novel homozygous ICK fetus compare effect of previously reported variant on ciliogenesis cilium morphology....
Beta-thalassemia is one of the most prevalent autosomal disorders in world.Mutations HBB gene underlie deficiencies hemoglobin production, which can interfere with oxygen delivery resulting wide range disease severity.Although >535 mutations have been characterized gene, beta-thalassemia broadly classified into three groups, based on clinical severity: major, intermedia and minor.In this article we review: 1) molecular biochemical basis beta-thalassemia; 2) features; 3) common variants a...
Objectives. We undertook studies of the association between common genomic variations in APOC3, APOA5, APOE and PON1 genes variation biochemical phenotypes a sample Greenlanders.Study Design. Genetic study quantitative lipoprotein traits.Methods. In 1,310 adult Greenlanders, fasting plasma lipid, apolipoprotein (apo) concentrations were assessed for with known functional variants PON1. For significantly associated polymorphisms, between-genotype differences examined closer detail.Results....
Apolipoprotein (apo) C-I is a constituent of chylomicrons, very low density lipoprotein, and high lipoprotein. The role apo in human metabolism incompletely defined. We took advantage naturally occurring amino acid polymorphism that present aboriginal North Americans, namely T45S. assessed the hypothesis metabolic traits, including obesity-related lipoprotein-related would differ between carriers noncarriers A genotyping assay was developed for APOC1 T45S genotypes were determined sample 410...
Background Transcriptome profiling of patterns RNA expression is a powerful approach to identify networks genes that play role in disease. To date, most mRNA tissues has been accomplished using microarrays, but next-generation sequencing can offer richer and more comprehensive picture. Methodology/Principal Findings ECO rare multi-system developmental disorder caused by homozygous mutation ICK encoding intestinal cell kinase. We performed gene both cDNA microarrays (mRNA-seq) skin...
Abstract Background To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing. Methods and results We identified four individuals autosomal recessive condition affecting central nervous system (CNS). Neuroimaging studies progressive global CNS tissue loss presenting early life, associated microcephaly, seizures, psychomotor retardation; based on this, we named Autosomal Recessive Cerebral...
Objective Macrophage activation syndrome (MAS), a life-threatening complication of systemic lupus erythematosus (SLE), resembles familial hemophagocytic lymphohistiocytosis (HLH), an inherited disorder hyperinflammation. We compared the proportion patients with childhood-onset SLE (cSLE) and without MAS who carried low-frequency HLH nonsynonymous variants. Methods enrolled from Lupus Clinic at SickKids, Toronto. Demographic clinical features were extracted database ancestry was genetically...
<h3>Background</h3> The Old Order Amish in Milverton, Ontario, represent a genetically isolated group which originated with 12 founding families 1824. Due to inbreeding and founder effect, certain genetic disorders have become highly prevalent Ontario Amish. <h3>Objective</h3> This study aims describe the spectrum of observed Southwestern (population size ˜ 2500). <h3>Design method</h3> Over past 25 years, we documented clinical phenotype, molecular aetiology children. <h3>Results</h3> A...
To develop a list of tests or treatments frequently used in pediatric rheumatology practice that may be unnecessary based on existing evidence.A Choosing Wisely (CW) working group composed 16 rheumatologists, 1 allied health professional, parent, and patient the Delphi method to generate, rank, refine harmful. The items with highest content agreement perceived impact were presented survey all Canadian Rheumatology Association (CRA) physicians who rheumatology. Respondents asked rate their...
Introduction: We recently identified two lethal recessive disorders segregating within the same Old Order Amish pedigree. The first disorder, Majewski-like syndrome (MLS), has features that overlap with both Majewski short rib-polydactyly and hydrolethalus syndrome. MLS is a multi-system disorder affects development of brain, adrenal glands, pituitary gland bone. second cerebral atrophy (CAS), characterized by progressive global loss brain tissue. Affected children present early in life...