1-20 of 28
Keywords: Genetics
Close
Follow your search
Access your saved searches in your account

Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles
Journal Articles
In collection:
Heart Disease
Dis Model Mech (2024) 17 (11): dmm050913.
Published: 22 November 2024
... 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...
Journal Articles
In collection:
Human Genetic Disease
Dis Model Mech (2024) 17 (5): dmm050754.
Published: 4 June 2024
...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...
Journal Articles
Dis Model Mech (2023) 16 (6): dmm050093.
Published: 30 June 2023
... 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...
Journal Articles
Dis Model Mech (2023) 16 (6): dmm050333.
Published: 13 June 2023
.... 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...
Journal Articles
In collection:
Heart Disease
Dis Model Mech (2023) 16 (5): dmm050101.
Published: 17 May 2023
... 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...
Journal Articles
Journal Articles
Dis Model Mech (2023) 16 (3): dmm049790.
Published: 7 March 2023
...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...
Journal Articles
Dis Model Mech (2023) 16 (1): dmm049671.
Published: 20 January 2023
... 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2022) 15 (10): dmm049526.
Published: 18 October 2022
... 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2022) 15 (6): dmm049484.
Published: 1 June 2022
...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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2022) 15 (6): dmm049376.
Published: 1 June 2022
.... 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...
Journal Articles
Dis Model Mech (2021) 14 (2): dmm046953.
Published: 19 February 2021
... 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...
Includes: Supplementary data
Journal Articles
Journal Articles
Dis Model Mech (2020) 13 (10): dmm046110.
Published: 26 October 2020
... 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (5): dmm044081.
Published: 17 May 2020
... 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (4): dmm043877.
Published: 29 April 2020
... 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...
Journal Articles
Journal Articles
Journal Articles
Dis Model Mech (2019) 12 (3): dmm038919.
Published: 1 March 2019
...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...