Research Article

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11/11/2014
Immunosuppressive agents; Mutation; Podocyte genes; Steroid treatment; Steroid-resistant nephrotic syndrome

Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to ... more

D.N. Feng; Y.H. Yang; D.J. Wang; D.C. Meng; R. Fu; J.J. Wang; Z.H. Yu
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Amenorrhea; FGFR1; Mutation; Normosmic idiopathic hypogonadotropic hypogonadism

Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed ... more

X.L. Wang; D.D. Wang; J.Q. Gu; N. Zhang; Z.Y. Shan
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BRAF V600E; Cutaneous melanoma; MAPK; Mutation

BRAF V600E is the most common mutation in cutaneous melanomas, and has been described in 30-72% of such cases. This mutation results in the substitution of valine for glutamic acid at position 600 of the BRAF protein, which consequently becomes constitutively activated. The present study investigated the BRAF V600E mutation frequency and its clinical implications in a ... more

J.S.S. Inumaru; K.I.F. Gordo; A.C.Fraga Junior; A.M.T.C. Silva; C.B.Q.S. Leal; F.M. Ayres; I.J. Wastowski; N.F. Borges; V.A. Saddi
03/24/2014
Mutation; TSC1 gene; TSC2 gene; Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090- ... more

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BRCA1 gene; Breast cancer; Clinical samples; Exon sequencing; Mutation

Germline mutations in the BRCA1 gene are known predictive markers for the development of hereditary breast cancer. Nevertheless, no comprehensive study has been performed targeting the presence and relevance of BRCA1 mutations in Moroccan breast cancer patients. We here present an analysis of BRCA1 gene regions (exon 2 and exon 11a/b) of 50 female Moroccan breast cancer ... more

A. Tazzite; S. Nadiffi; D. Kottwitz; E. Amrani; H. Jouhadi; A. Benider; A. Moumen; H. Sefrioui
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Ectopia lentis; Exon; FBN1; Marfan syndrome; Mutation

The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was performed on all subjects. ... more

Y. Yin; X.H. Liu; X.H. Li; N. Fan; D.F. Lei; Y. Wang; S.P. Cai; X.M. Zhou; X.M. Chen; X.Y. Liu
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Exons; Mutation; Non-syndromic cleft of the lip and/or palate; PVRL1

Non-syndromic cleft of the lip and/or palate (NSCLP) is a very common birth defect; the poliovirus receptor-like 1 gene (PVRL1) has been identified as a genetic risk factor for NSCLP in patients from Norway, the Philippines, and South America. Given the considerable variation in allele frequencies across these geographical regions, this study explored the relationship between ... more

S.Y. Shu; M.J. Zhang; H.Q. Cheng; S.J. Tang; W.L. Chen; S.R. Wu; Y. Lin; Q.S. Chen

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