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Keywords: Genetics
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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
Dis Model Mech (2020) 13 (12): dmm041350.
Published: 22 December 2020
...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...
Journal Articles
Dis Model Mech (2020) 13 (10): dmm046110.
Published: 26 October 2020
... phenotypic 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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (5): dmm044081.
Published: 17 May 2020
... 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
Dis Model Mech (2019) 12 (11): dmm041103.
Published: 15 November 2019
... (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...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (6): dmm036764.
Published: 24 June 2019
... valve stenosis Genetics Congenital heart disease Cardiac valve malformations are the most common type of congenital heart defect (CHD) affecting 1-2% of newborn infants, when including bicuspid aortic valve (BAV) ( Fahed et al., 2013 ). Morphologic abnormalities affecting the aortic and...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2019) 12 (3): dmm038919.
Published: 01 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 and the...
Journal Articles
Dis Model Mech (2018) 11 (11): dmm036699.
Published: 20 November 2018
... -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...
Journal Articles
Dis Model Mech (2017) 10 (11): 1289–1300.
Published: 01 November 2017
... 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, such as...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2017) 10 (8): 955–970.
Published: 01 August 2017
... significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified...
Journal Articles
Dis Model Mech (2016) 9 (10): 1111–1123.
Published: 01 October 2016
...Anthony C. Y. Yau; Rikard Holmdahl ABSTRACT Rheumatoid arthritis is a chronic inflammatory joint disorder characterised by erosive inflammation of the articular cartilage and by destruction of the synovial joints. It is regulated by both genetic and environmental factors, and, currently, there is...
Journal Articles
Dis Model Mech (2016) 9 (8): 863–871.
Published: 01 August 2016
...K. Saidas Nair; Mihai Cosma; Narayanan Raghupathy; Michael A. Sellarole; Nicholas G. Tolman; Wilhelmine de Vries; Richard S. Smith; Simon W. M. John ABSTRACT A variety of inherited animal models with different genetic causes and distinct genetic backgrounds are needed to help dissect the complex...
Journal Articles
Dis Model Mech (2016) 9 (3): 347–359.
Published: 01 March 2016
... with prominent nuclear internalization and large areas of myofibrillar disorganization’ ( Romero, 2010 ). A small subset of individuals with CNM also present with cardiomyopathy. CNM with cardiomyopathy is linked to SPEG and DNM2 mutations, but, in many cases, the genetic cause is unknown ( Agrawal...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2014) 7 (7): 777–784.
Published: 01 July 2014
... with Mycobacterium marinum , the closest relative of the Mycobacterium tuberculosis complex, recapitulates many aspects of human tuberculosis. The zebrafish model affords optical transparency, abundant genetic tools and in vivo imaging of the progression of infection. Here, we review how the zebrafish...
Journal Articles
Dis Model Mech (2014) 7 (5): 561–569.
Published: 01 May 2014
... genetic predisposition for some AF cases ( Brugada et al., 1997 ; Fox et al., 2004 ; Pfeufer et al., 2010 ). The first familial case of AF was reported in 1943 ( Wolff, 1943 ) and the first genetic locus of AF was mapped to the 10q22–q24 site in 1997 ( Brugada et al., 1997 ). In 2003, a putative genetic...