...Helen Rankin Willsey; Eleanor G. Seaby; Annie Godwin; Sarah Ennis; Matthew Guille; Robert M. Grainger ABSTRACT Recent progress in human disease genetics is leading to rapid advances in understanding pathobiological mechanisms. However, the sheer number of risk-conveying genetic variants being...

.... , Kölby , L. , Nilsson , J. A. and Stenman , G. ( 2019 ). Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome . J. Plast. Surg. Hand Surg. 53 , 71 - 75 . 10.1080/2000656X.2018.1547736 Ang , R. L. , Chan , M. , Legarda , D...

... organism to a preclinical model for human disease. Caenorhabditis elegans Preclinical Worms Genetics The fine print of a standard investment agreement will inevitably include the disclaimer that “past performance may not be indicative of future results”. Inapposite to this financial...

... cause complex cardiac arrhythmias that can manifest as severe sinus bradycardia, sinus arrest, chronotropic incompetence and increased susceptibility to atrial fibrillation, among other cardiac conditions. SND has a complex aetiology, with both pre-existing disease and heritable genetic variation...

... copy genes are not well known. A mouse mapping panel genetically dissecting human chromosome 21 (Hsa21) syntenic regions was used to investigate the contributions and interactions of triplicated Hsa21 orthologous genes on mouse chromosome 16 (Mmu16) on skeletal phenotypes. Skeletal structure...

...Christina T. Stankey; James C. Lee ABSTRACT Genome-wide association studies have identified hundreds of genetic loci that are associated with immune-mediated diseases. Most disease-associated variants are non-coding, and a large proportion of these variants lie within enhancers. As a result...

... but not BRAF;p53;Pten. These data indicate that both germline (Agrp) and somatic (BRAF, Rb1) mutations contribute to obesity-related effects in melanoma. Given the rapid genetic tools available in the zebrafish, this provides a high-throughput system to dissect the interactions of genetics, diet, sex and host...

... precursors derived from bipolar disorder patients, which could contribute to the already known structural changes in the brain. Bipolar disorder Cell migration EGF/ERBB signaling Mean-squared displacement Genetics Brain structure Department of Biotechnology, Ministry of Science...

...Lucienne Chatenoud; Cindy Marquet; Fabrice Valette; Lindsay Scott; Jiexia Quan; Chun Hui Bu; Sara Hildebrand; Eva Marie Y. Moresco; Jean-François Bach; Bruce Beutler ABSTRACT Genetic association studies of type 1 diabetes (T1D) in humans, and in congenic non-obese diabetic (NOD) mice harboring DNA...

.... In every complex disorder, identifying the contribution of different genetic and non-genetic risk factors is a key obstacle to understanding disease mechanisms. Genetic studies rely on precise phenotypes and are unable to uncover the genetic contributions to a disorder when phenotypes are imprecise...

... were the most resistant to developing anterior segment abnormalities, had less severe IOP elevation than B6 mutants at young ages and showed no detectable nerve damage. To identify genetic modifiers of susceptibility to Lmx1b V265D -induced glaucoma-associated phenotypes, we performed a mapping cross...

...James J. Doyle; Celine Vrancx; Claudia Maios; Audrey Labarre; Shunmoogum A. Patten; J. Alex Parker ABSTRACT Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease resulting in muscle atrophy and neurodegeneration, and is the leading genetic cause of infant death...

... variation in vivo . Moreover, chemical treatments, as well as forward and reverse genetic screening, hasten the identification of modifiers that alter neurodegeneration. When combined, these chemical-genetic analyses establish critical threshold states to enhance or reduce cellular stress for dissecting...

... of RBCs, is prominently associated with a variety of illnesses, especially cardiovascular diseases. However, the significance of this association to the onset and progression of cardiovascular and renal diseases is unknown. We hypothesized that a genetic predisposition for increased RDW is an early risk...

... investigation into the mechanistic underpinnings of schizophrenia so that novel therapeutic targets can be identified. Because schizophrenia is a highly heritable disorder, genetic risk factors remain an attractive avenue for this research. Given their clear molecular genetic consequences, recurrent...

... (HCM) is a hereditary disease characterized by cardiac hypertrophy with diastolic dysfunction. Gene mutations causing HCM have been found in about half of HCM patients, while the genetic etiology and pathogenesis remain unknown for many cases of HCM. To identify novel mechanisms underlying HCM...

... valve stenosis Genetics Congenital heart disease American Heart Association 10.13039/100000968 16PRE30230016 Japan Heart Foundation Bayer 10.13039/100004326 Nationwide Children's Hospital 10.13039/100007520 National Institutes of Health...

...Harold Varmus Harold Varmus has made pioneering contributions to our understanding of cancer as a genetic disease. The discovery of the cellular origin of retroviral oncogenes earned him and his long-term collaborator, Michael Bishop, the Lasker Prize for Basic Medical Sciences in 1982...

...) but not in the -resistant (CDr/y) strain. Diet imposes a metabolic strain that leads to diabetes in the appropriate genetic background. We previously identified, through whole-genome linkage analysis, a diabetes-related quantitative trait locus on rat chromosome 4 (RNO4), which incorporates NADH dehydrogenase (ubiquinone...

... function and Eustachian tube function as potential predisposing mechanisms. Clinical studies of chronic otitis media have yet to implicate a particular molecular pathway or mechanism, and current human genetic studies are underpowered. We also do not fully understand how existing interventions...