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1.
Jia-Nee Foo Herty Liany Jin-Xin Bei Xue-Qing Yu Jianjun Liu Wing-Lok Au Kumar M. Prakash Louis C. Tan Eng-King Tan 《Neurobiology of aging》2013,34(12):2890.e13-2890.e15
To investigate the role of mutations in the sphingomyelin phosphodiesterase (SMPD1) gene in Parkinson's disease (PD) we sequenced all the exons of this gene in 198 Chinese PD cases and matched healthy control subjects. We identified 4 rare variants in SMPD1 (p.P332R, p.Y500H, p.P533L, and p.R591C) that were present only in cases and not in control subjects. Interestingly, 2 of these variants were previously reported in Chinese Niemann-Pick disease patients. Next, we genotyped these variants in another 806 PD cases and 7481 control subjects. We identified a novel, rare SMPD1 variant (p.R591C) which increased the risk of PD (p = 0.009). 相似文献
2.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants 下载免费PDF全文
Stefania Zampieri Mirella Filocamo Annalisa Pianta Susanna Lualdi Laura Gort Maria Jose Coll Richard Sinnott Tarekegn Geberhiwot Bruno Bembi Andrea Dardis 《Human mutation》2016,37(2):139-147
Niemann–Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase (ASM) because of the mutations in the SMPD1 gene. Here, we provide a comprehensive updated review of already reported and newly identified SMPD1 variants. Among them, 185 have been found in NPA/B patients. Disease‐causing variants are equally distributed along the SMPD1 gene; most of them are missense (65.4%) or frameshift (19%) mutations. The most frequently reported mutation worldwide is the p.R610del, clearly associated with an attenuated NP disease type B phenotype. The available information about the impact of 52 SMPD1 variants on ASM mRNA and/or enzymatic activity has been collected and whenever possible, phenotype/genotype correlations were established. In addition, we created a locus‐specific database easily accessible at http://www.inpdr.org/genes that catalogs the 417 SMPD1 variants reported to date and provides data on their in silico predicted effects on ASM protein function or mRNA splicing. The information reviewed in this article, providing new insights into the genotype/phenotype correlation, is extremely valuable to facilitate diagnosis and genetic counseling of families affected by NPA/B. 相似文献
3.
Wanguo Liu Iris Schrijver Thomas Brenn Heinz Furthmayr Uta Francke 《BMC medical genetics》2001,2(1):11-9
Background
Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a genomic multi-exon deletion. 相似文献4.
Melika Mozaffari Marianne Hoogeveen-Westerveld David Kwiatkowski Julian Sampson Rosemary Ekong Sue Povey Johan T den Dunnen Ans van den Ouweland Dicky Halley Mark Nellist 《BMC medical genetics》2009,10(1):88
Background
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). Recently it has been shown that missense mutations to the TSC1 gene can cause TSC. 相似文献5.
Nigel?PS?Crawford Maurice?R?Eichenberger Daniel?W?Colliver Robert?K?Lewis Gary?A?Cobbs Robert?E?Petras Susan?Galandiuk
Background
Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1. 相似文献6.
Sulman Basit Syed Kamran-ul-Hassan Naqvi Naveed Wasif Ghazanfar Ali Muhammad Ansar Wasim Ahmad 《BMC medical genetics》2008,9(1):102
Background
Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia. 相似文献7.
Cibele Masotti Camila C Ornelas Alessandra Splendore-Gordonos Ricardo Moura Têmis M Félix Nivaldo Alonso Anamaria A Camargo Maria Rita Passos-Bueno 《BMC medical genetics》2009,10(1):136-7
Background
Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryonic development is the proposed molecular mechanism underlying TCS. However, it is still unknown if TCOF1 expression levels are decreased in post-embryonic human cells. 相似文献8.
9.
Katharina J Schlang Larissa Arning Joerg T Epplen Susanne Stemmler 《BMC medical genetics》2008,9(1):71
Background
Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31. The purpose of this study was to determine the prevalence of REEP1 mutations in a cohort of 162 unrelated Caucasian index patients with 'pure' HSP and a positive family history (at least two persons per family presented symptoms). 相似文献10.
Background
Disturbances in serotonin neurotransmission are implicated in the etiology of many psychiatric disorders, including bipolar affective disorder (BPD). The tryptophan hydroxylase gene (TPH), which codes for the enzyme catalyzing the rate-limiting step in serotonin biosynthetic pathway, is one of the leading candidate genes for psychiatric and behavioral disorders. In a preliminary study, we found that TPH1 intron7 A218C polymorphism was associated with BPD. This study was designed to investigate sequence variants of the TPH1 gene in Taiwanese and to test whether the TPH1 gene is a susceptibility factor for the BPD. 相似文献11.
Konsta Duesing Guillaume Charpentier Michel Marre Jean Tichet Serge Hercberg Beverley Balkau Philippe Froguel Fernando Gibson 《BMC medical genetics》2008,9(1):14
Background
PBX1 is a biological candidate gene for type 2 diabetes at the 1q21-q24 susceptibility locus. The aim of this study was to evaluate the association of common PBX1 variants with type 2 diabetes in French Caucasian subjects. 相似文献12.
Background
Epidemiological studies have provided enough evidence that genetic factors have an important role in determining susceptibility to IBD. The most significant finding in the IBD research has been identification of mutations in the gene that encodes Nod2 (nucleotide-binding oligomerization domain 2) protein in a subgroup of patients with Crohn's disease. However, a very similar gene encoding Nod1 protein still has not been well documented for its association with Ulcerative colitis patients. Detection of polymorphism in NOD1 gene using SNP analysis has been attempted in the present study. We evaluated frequency and significance of mutations present in the nucleotide-binding domain (NBD) of NOD1 gene in context to Indian population. 相似文献13.
Danielle Carpenter Christopher Ringrose Vincenzo Leo Andrew Morris Rachel L Robinson P Jane Halsall Philip M Hopkins Marie-Anne Shaw 《BMC medical genetics》2009,10(1):104
Background
Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential role in excitation-contraction coupling and calcium homeostasis in skeletal muscle. This study focuses on the gene CACNA1S which encodes the α1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK. 相似文献14.
Peter Weyrich Fausto Machicao Julia Reinhardt Jürgen Machann Fritz Schick Otto Tschritter Norbert Stefan Andreas Fritsche Hans-Ulrich Häring 《BMC medical genetics》2008,9(1):100
Background
Sirtuin1 (SIRT1) regulates gene expression in distinct metabolic pathways and mediates beneficial effects of caloric restriction in animal models. In humans, SIRT1 genetic variants associate with fasting energy expenditure. To investigate the relevance of SIRT1 for human metabolism and caloric restriction, we analyzed SIRT1 genetic variants in respect to the outcome of a controlled lifestyle intervention in Caucasians at risk for type 2 diabetes. 相似文献15.
Background
We have previously reported an association between the estrogen receptor 1 (ESR1) gene exon 8 G594A polymorphism and migraine susceptibility in two independent Australian cohorts. In this paper we report results of analysis of two further single nucleotide polymorphisms (SNPs) in the ESR1 gene in the same study group, the T/C Pvu II SNP in intron 1 and the C325G SNP in exon 4, as well as results of linkage disequilibrium (LD) analysis on these markers. 相似文献16.
Mark Nellist Őzgür Sancak Miriam Goedbloed Alwin Adriaans Marja Wessels Anneke Maat-Kievit Marieke Baars Charlotte Dommering Ans van den Ouweland Dicky Halley 《BMC medical genetics》2008,9(1):10
Background
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). 相似文献17.
Claire Cheyssac Cécile Lecoeur Aurélie Dechaume Amina Bibi Guillaume Charpentier Beverley Balkau Michel Marre Philippe Froguel Fernando Gibson Martine Vaxillaire 《BMC medical genetics》2006,7(1):44
Background
The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 showing linkage with type 2 diabetes (T2D) in several populations. PTPN1 gene variants have been inconsistently associated with T2D, and the aim of our study was to investigate the effect of PTPN1 genetic variations on the risk of T2D, obesity and on the variability of metabolic phenotypes in the French population. 相似文献18.
Chen Liu Ying Wu Huaixing Li Qibin Qi Claudia Langenberg Ruth JF Loos Xu Lin 《BMC medical genetics》2010,11(1):59
Background
Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulation of circadian rhythms, the effect of the variant on sleep status remains unknown. This study aimed to investigate the effects of MTNR1B rs10830963 on fasting glucose, type 2 diabetes and sleep status in Chinese Hans. 相似文献19.
Weiwei Ma Jing Xu Qianqian Wang Ying Xin Lin Zhang Xinxin Zheng Hu Wang Kai Sun Rutai Hui Xiaohong Huang 《BMC medical genetics》2010,11(1):149