...-induced developmental defects including craniofacial malformations. While ethanol-sensitive genetic mutations contribute to facial malformations, the impacted cellular mechanisms remain unknown. Signaling via bone morphogenetic protein (Bmp) is a key regulatory step of epithelial morphogenesis driving...

... common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in patients with CHDs, few gene variants have been proven as causal. The complexity of the genetic architecture underlying human CHDs likely contributes...

...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...

... Frontotemporal dementia Genetics Skin tumours Ubiquitination National Health and Medical Research Council http://dx.doi.org/10.13039/501100000925 GNT1138223 University of Sydney http://dx.doi.org/10.13039/501100001774 NIHR Newcastle Biomedical Research Centre http...

.... et al. (2022). Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia . Hum. Mol. Genet. 31 , 929 - 941 . 10.1093/hmg/ddab296 Farlow , J. L. , Robak , L...

... 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...

... in bipolar disorder and the relationship to genetic risk, Mania, and Lithium Use . Biol. Psychiatry 87 , 271 - 281 . 10.1016/j.biopsych.2019.08.015 Barber , M. , Arai , Y. , Morishita , Y. , Vigier , L. , Causeret , F. , Borello , U. , Ledonne , F. , Coppola , E...

...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...