Research Article

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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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Gene mutation; Neonate; UGT1A1; Unconjugated hyperbilirubinemia

This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was ... more

X.H. Guo; Y.F. Sun; M. Cui; J.B. Wang; S.Z. Han; J. Miao; X.H. Guo; Y.F. Sun; M. Cui; J.B. Wang; S.Z. Han; J. Miao
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ErbB4; Gene mutation; Molecular modeling

ErbB4 is an oncogene belonging to the epidermal growth factor receptor family and contributes to the occurrence and development of multiple cancers, such as gastric, breast, and colorectal cancers. Therefore, studies of the regulation of ErbB4 in cancerigenic pathway will advance molecular targeted therapy. Advanced bioinformatic analysis softwares, such as ExPASy, Predictprotei, QUARK, ... more

C.L. Chen; J.W. Zhao; C.L. Chen; J.W. Zhao
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Haplotype; Hypertension; Mongolian; SLC12A3; TagSNP

Mounting evidence has implicated the SLC12A3 gene in essential hypertension. Here, we examined the potential associations of common variants of the SLC12A3 gene with blood pressure traits in Mongolians in China. Genomic DNA was extracted from 508 unrelated Mongolian patients with essential hypertension and 246 normotensive Mongolian subjects for genotyping. The genotype ... more

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Cardiac troponin T type-2 gene; Dilated cardiomyopathy; Gene mutation; Nuclear lamina protein gene; Single nucleotide polymorphism; Tropomyosin gene

Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, which can facilitate the ... more

Y.D. Li; Y.T. Ji; X.H. Zhou; H.L. Li; H.T. Zhang; Y. Zhang; J.X. Li; Q. Xing; J.H. Zhang; Y.F. Hong; B.P. Tang
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BRAF; Gene mutation; Lymph node metastasis; Papillary thyroid carcinoma

This study sought to investigate the correlations of V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutations with the clinicopathologic features of papillary thyroid carcinoma and central lymph node metastasis. We retrospectively analyzed the 2-year medical records of patients who underwent surgery for papillary thyroid carcinoma. After screening, the records of 126 patients ... more

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Congenital aniridia; Eye development; Gene mutation; PAX6

Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, ... more

F. He; D.L. Liu; M.P. Chen; L. Liu; L. Lu; M. Ouyang; J. Yang; R. Gan; X.Y. Liu