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Identification of high seed oil yield and high oleic acid content in Brazilian germplasm of winter squash ( D.).
Saudi J Biol Sci
April 2022
Agronomy Department, Federal University of Viçosa-UFV, PH Rolfs Avenue, Zip Code 36570-000, Viçosa, MG, Brazil.
D. seed oil contains approximately 75% unsaturated fatty acids, with high levels of monounsaturated fatty acids and antioxidant compounds such as vitamin E and carotenoids, constituting a promising food in nutritional terms. In addition, the Brazilian germplasm of exhibits remarkable variability, representing an important source for the genetic breeding of this vegetable and other cucurbits.
View Article and Find Full Text PDFProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Mol Genet Genomic Med
June 2021
Metabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Background: Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma-pheochromocytomas (PGL/PCC), and gastrointestinal stromal tumors). Deleterious variants of SDHA are most frequently associated with Leigh and Leigh-like syndromes.
View Article and Find Full Text PDFSequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.
Andrology
March 2020
Institute of Human Genetics, University of Münster, Münster, Germany.
Background: The routine genetic analysis for diagnosing male infertility has not changed over the last twenty years, and currently available tests can only determine the etiology of 4% of unselected infertile patients. Thus, to create new diagnostic assays, we must better understand the molecular and genetic mechanisms of male infertility. Although next-generation sequencing allows for simultaneous analysis of hundreds of genes and the discovery of novel candidates related to male infertility, so far only a few gene candidates have enough sound evidence to support the gene-disease relationship.
View Article and Find Full Text PDFAdrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.
Eur J Endocrinol
November 2017
Brigham and Women's Hospital/Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA.
Objective: Germline loss-of-function mutations in succinate dehydrogenase () genes results in rare tumor syndromes that include pheochromocytoma, paraganglioma, and others. Here we report a case series of patients with adrenocortical carcinoma (ACC) that harbor mutations.
Patients And Results: We report four unrelated patients with ACC and mutations.
Characterization and transcriptional analysis of the promoter region of the Duffy blood group, chemokine receptor (DARC) gene in cattle.
Vet Immunol Immunopathol
December 2009
Departamento de Genética, Instituto de Biociências, UNESP, Distrito de Rubião Junior, Botucatu, SP 18618-000, Brazil.
The Duffy antigen is the only receptor for Plasmodium vivax, a hemoparasite of the phylum Apicomplexa and the cause of vivax malaria in humans. Resistance to this parasite in the majority of black African individuals and their descendents is due to a mutation in the gene promoter region, which blocks its transcription on erythrocytes. Regarding bovine babesiosis, it is known that taurine breeds are more susceptible to parasite infection than zebuine breeds.
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