A report is presented concerning a family with heritable electrocardiographic QT-prolongation attacks of syncope and possible sudden death. In 23 family members investigated, nine living cases were found to have the anomaly. Of these nine patients at least two had had syncopes in early childhood. Hearing loss was found in three of the nine patients, but in one of them this could have been due to noise trauma and in another hearing loss was unilateral. The inheritance follows an autosomal dominant pattern. As far as we know this is the first report of this disease from The Netherlands.
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http://dx.doi.org/10.1136/jmg.10.2.158 | DOI Listing |
Front Plant Sci
January 2025
Univ Angers, Institut Agro, INRAE, IRHS, SFR QUASAV, Angers, France.
The genetic basis of type 1 red-flesh color development in apple () depends upon a particular allele of the gene. Interestingly, type 1 red-flesh apples are fully red after fruit set, but anthocyanin pigmentation in apple fruit cortex may decrease during fruit growth and maturation, leading to variable red patterning and intensities in the mature cortical flesh. We developed a histogram-based color analysis method to quantitatively estimate pigmentation patterns.
View Article and Find Full Text PDFAnnu Rev Pathol
January 2025
MASLD Research Center, Division of Gastroenterology, University of California at San Diego, La Jolla, California, USA; email:
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health problem, affecting ∼1 billion people. This condition is well established to have a heritable component with strong familial clustering. With the extraordinary breakthroughs in genetic research techniques coupled with their application to large-scale biobanks, the field of genetics in MASLD has expanded rapidly.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Radiation Oncology, Xiamen Cancer Center, Xiamen Key Laboratory of Radiation Oncology, School of Medicine, The First Affiliated Hospital of Xiamen University, Xiamen University, Xiamen, China.
Background: Genome-wide association studies (GWAS) provide a powerful method for identifying the loci and genes that contribute to disease. However, in many cases, the specific cell types and states that confer disease risk through these genes remain unknown. Determining this relationship is crucial for identifying pathogenic processes and developing therapeutic strategies.
View Article and Find Full Text PDFTheor Appl Genet
January 2025
USDA, ARS, U.S. Vegetable Laboratory, 2700 Savannah Highway, Charleston, SC, 29414, USA.
Complex traits influenced by multiple genes pose challenges for marker-assisted selection (MAS) in breeding. Genomic selection (GS) is a promising strategy for achieving higher genetic gains in quantitative traits by stacking favorable alleles into elite cultivars. Resistance to Fusarium oxysporum f.
View Article and Find Full Text PDFTheor Appl Genet
January 2025
Grasslands Research Centre, AgResearch Ltd, Private Bag 11008, Palmerston North, 4442, New Zealand.
Genomic selection using white clover multi-year-multi-site data showed predicted genetic gains through integrating among-half-sibling-family phenotypic selection and within-family genomic selection were up to 89% greater than half-sibling-family phenotypic selection alone. Genomic selection, an effective breeding tool used widely in plants and animals for improving low-heritability traits, has only recently been applied to forages. We explored the feasibility of implementing genomic selection in white clover (Trifolium repens L.
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