Research Article

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Gaucher Disease (GD) is an autosomal recessive genetic disorder, caused by a deficiency of the enzyme B-glucocerebrosidase (GBA). In Colombia, despite considerable research on GD, the frequency of the GBA gene variants in the population is unknown, making it difficult to determine the risk of occurrence based on carriers. To identify the variants of the ... more

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We developed a database system for collaborative HIV analysis (DBCollHIV) in Brazil. The main purpose of our DBCollHIV project was to develop an HIV-integrated database system with analytical bioinformatics tools that would support the needs of Brazilian research groups for data storage and sequence analysis. Whenever authorized by the principal investigator, this system also allows ... more

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Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing countries. Obesity causes several chronic diseases, including cardiovascular and respiratory diseases, osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, and several types of cancer. Previous genome-wide association studies have ... more

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Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing countries. Obesity causes several chronic diseases, including cardiovascular and respiratory diseases, osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, and several types of cancer. Previous genome-wide association studies have ... more

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Exome sequencing; Gitelman syndrome; Saudi family; SLC12A3 gene

Gitelman syndrome (GS) is a genetic disorder that affects kidney and causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. GS is characterized by hypokalemia and metabolic alkalosis. GS is a rare autosomal recessive renal tubulopathy disease caused by loss-of-function mutations in the SLC12A3 gene. Objective ... more

M.Imran Naseer; O.Yousef Muthaffar; M. Rasool; A. Abdulkareem; M.Alam Jafri; P.Natesan Pushparaj; G. Kalamegam; A.G. Chaudhary; M.H.Al Qahtani
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Germplasm; Pepper; Plant breeding; Variability

Genetic variability among pepper genotypes is essential in obtaining hybrid combinations with greater heterotic effect and in obtaining superior strains. This work’s goal was to evaluate the genetic diversity between accessions of Capsicum annuum L., indicating the selection of promising individuals for ornamental purposes. The experiment was carried out in at the ... more

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Bean plant; genetic breeding; Molecular marker ISSR; Variability

The common bean (Phaseolus vulgaris) is a widespread crop in Brazil of dietary and economic importance, and it is cultivated primarily through family farming. Knowledge of genetic variability in landraces and improved bean cultivars is essential to explore the existing diversity, identify superior genotypes adapted to the climatic conditions of specific ... more

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Brazilian fruit; Conservation; Germplasm; Hancornia speciosa; SSR; Variability

The mangaba, Hancornia speciosa, (Apocynaceae) is a fruit tree native to Brazil with predominantly extractivist production. The fruit can be consumed in natura; however, it is widely consumed as frozen pulp and ice cream produced by agro-industry companies. We evaluated the genetic diversity of 213 individuals that make up the mangaba GeneBank of ... more

A.V.C. Silva; M.F. Vitória; V.R.R. Azevedo; A.J. Sá; A.L.S. Nascimento; M.N. Cardoso; A.N.R. Soares; J.F.Silva Júnior1; A.S. Lédo

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