Research Article

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Bioinformatics tools; Exome sequencing; Mucopolysaccharidosis Complex; Variability

Mucopolysaccharidosis (MPS) related information in Colombia is limited. A descriptive research involving results obtained in the full exome sequencing of 244 patients with different types of pathologies and not clinically diagnosed with MPS was carried out with the purpose of examining the genomic variability of genes associated with the MPS complex in South West ... more

L.J. Moreno-Giraldo; J.M. Satizábal-Soto; A. Sanchéz-Gomez
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Body mass index; Exome sequencing; Gene; Obesity; Thailand; Variants

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

S. Kaewsutthi; J. Santiprabhob; B. Phonrat; A. Tungtrongchitr; P. Lertrit; R. Tungtrongchitr; S. Kaewsutthi; J. Santiprabhob; B. Phonrat; A. Tungtrongchitr; P. Lertrit; R. Tungtrongchitr
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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

L.V. Araújo; M.A. Soares; S.M. Oliveira; P. Chequer; A. Tanuri; E.C. Sabino; J.E. Ferreira
08/13/2012
Inborn errors of metabolism; Lipidoses; Lysosomal storage diseases; Mucopolysaccharidosis; Sphingolipidoses

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from individuals who had been referred to the Institute of Neurology and ... more

C. Menéndez-Sainz; A. González-Quevedo; S. González-García; M. Peña-Sánchez; R. Giugliani
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Breast cancer; Chinese women; Exome sequencing; SPOP gene

SPOP protein has been found to have ubiquitin ligase activity. Mutations in SPOP gene have been recently reported in some cancers such as prostate, gastric, colorectal cancer. We investigated SPOP DNA mutation in tumor tissues collected from 70 Chinese female breast cancer patients in Southwestern China by DNA sequencing. The results did not show mutation in our tissue samples, indicating ... more

M.A. Khan; L. Zhu; M. Tania; X.L. Xiao; J.J. Fu
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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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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