Research Article

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Diabetic patients have shown greater vulnerability, significant mortality, and serious complications when infected with SARS-CoV-2. Interindividual variation in susceptibility to severe progression of COVID-19 in diabetic patients has been associated with genetic polymorphisms. This systematic review protocol will critically synthesize the scientific evidence on ... more

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The SARS-CoV-2 pandemic has demonstrated the need for genomic epidemiology surveillance. To date, various methodologies have been applied, including metagenomic approaches and amplicon-based sequencing associated with high-throughput sequencing platforms. We adapted some details in amplicon-based sequencing using a SARS-CoV-2 community panel (Illumina AmpliSeq), ... more

C.P. Targueta; R.S. Braga-Ferreira; A.A. de Melo; J.S. de Curcio; R. Nunes; R.O. Dias; F. Mello-Andrade; D.M. Silva; E.P. Silveira-Lacerda; T.G. Castro; T.M.A. Pedroso; L.A. Pereira; A.F. Mendonça; R.M. Almeida; V.L. Silva; M.P.C. Telles
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Coronavirus; Meta-analysis; Real-time PCR

Novel coronavirus (nCoV) belongs to the Coronaviridae family, which includes the virus that causes SARS, or severe acute respiratory syndrome. However, infection source, transmission route, and host of nCoV have not yet been thoroughly characterized. In some cases, nCoV presented a limited person-to-person transmission. Therefore, early diagnosis of nCoV may be of importance for reducing ... more

C. Lin; R. Ye; Y.L. Xia
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Gene; Mutation; TSC1; Tuberous sclerosis complex

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the ... more

G.X. Wang; D.W. Wang; J.S. Zhao; S.F. Wang; R.P. Sun
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Biomarker; Mutation; Myelodysplastic syndromes; Refractory cytopenias with multilineage dysplasia; TET2

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic ... more

D.F. Coutinho; C. Diniz; R.L.D. Filgueiras; R.L.R. Baptista; J.P. Ayres-Silva; B.C.R. Monte-Mór; M.H. Bonamino; I.R. Zalcberg
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Charcot-Marie-Tooth; Gender; Mitofusin 2; Mutation

Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in which the phenotype of affected individuals varied, and the ... more

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Autosomal dominant optic atrophy; Copy number variation; Mutation; Optic atrophy protein 1; Pedigree

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent cause of ADOA. The purpose of this study ... more

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ATP2C1; Hailey-Hailey disease; Mutation

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the ... more

L. Meng; Y. Gu; X.F. Du; M.H. Shao; L.L. Zhang; G.L. Zhang; X.L. Wang
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12:i:-; 5; Flagellar phase variation; fljBA operon; Mutation; Salmonella enterica; Serovar 4; λ-red

Salmonella enterica subsp enterica serovar 4,5,12:i:- has been responsible for many recent Salmonella outbreaks worldwide. Several studies indicate that this serovar originated from S. enterica subsp enterica serovar Typhimurium, by the loss of the flagellar phase II gene (fljB) and adjacent sequences. However, at least two different ... more

M.P.O. Tomiyama; C.H. Werle; G.P. Milanez; D.B. Nóbrega; J.P. Pereira; A.P. Calarga; F. Flores; M. Brocchi
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BRAF; Breast cancer; KRAS; Mutation; PIK3CA

Phosphatidylinositol-3-OH kinase and RAS-activated signaling pathways play an important role in tumor formation. Abnormalities in relevant genes play essential roles in the occurrence and development of many human cancers. Studies of breast cancer have mainly focused on the women in western countries, but few studies have examined the frequency of mutations in PIK3CA, BRAF ... more

Y.L. Wang; X. Dai; Y.D. Li; R.X. Cheng; B. Deng; X.X. Geng; H.J. Zhang

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