Neural network analysis in pharmacogenetics of mood disorders.

abstract：BACKGROUND:Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment and follow-up. A recent genome-wide association study revealed four genetic loci, which were associated...

journal_title：BMC medical genetics

authors： Hertel JK,Johansson S,Ræder H,Platou CG,Midthjell K,Hveem K,Molven A,Njølstad PR

更新日期：2011-02-04 00:00:00

abstract：BACKGROUND:Streptococcus pneumoniae (pneumococcus) is responsible for over one million deaths per year, with young children, the elderly and immunocompromised individuals being most at risk. Approximately half of East African children have been reported to be asymptomatic carriers of pneumococcus with invasive infectio...

journal_title：BMC medical genetics

authors： Payton A,Payne D,Mankhambo LA,Banda DL,Hart CA,Ollier WE,Carrol ED

更新日期：2009-03-23 00:00:00

abstract：BACKGROUND:Insulin secretion is enhanced upon the binding of Glucagon-like peptide-1 (GLP-1) to its receptor (GLP1R) in pancreatic β cells. Although a reduced expression of GLP1R in pancreatic islets from type 2 diabetic patients and hyperglycaemic rats has been established, it is still unknown if this is caused by dif...

journal_title：BMC medical genetics

authors： Hall E,Dayeh T,Kirkpatrick CL,Wollheim CB,Dekker Nitert M,Ling C

更新日期：2013-07-23 00:00:00

abstract：BACKGROUND:The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an association of TPH2 alleles with childhood-onset obsessive-compulsive disorder (OCD) and with autism. GLO...

journal_title：BMC medical genetics

authors： Sacco R,Papaleo V,Hager J,Rousseau F,Moessner R,Militerni R,Bravaccio C,Trillo S,Schneider C,Melmed R,Elia M,Curatolo P,Manzi B,Pascucci T,Puglisi-Allegra S,Reichelt KL,Persico AM

更新日期：2007-03-08 00:00:00

abstract：BACKGROUND:Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Bio...

journal_title：BMC medical genetics

authors： Ballana E,Mercader JM,Fischel-Ghodsian N,Estivill X

更新日期：2007-12-21 00:00:00

abstract：BACKGROUND:Elastogenesis of elastic extracellular matrix (ECM) which was recognized as a major component of blood vessels has been believed for a long time to play only a passive role in the dynamic vascular changes of typical hypertension. Emilin1 gene participated in the transcription of ECM's formation and was recog...

journal_title：BMC medical genetics

authors： Shen C,Lu X,Li Y,Zhao Q,Liu X,Hou L,Wang L,Chen S,Huang J,Gu D

更新日期：2009-11-18 00:00:00

abstract：BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...

journal_title：BMC medical genetics

authors： Luzón-Toro B,Espino-Paisán L,Fernández RM,Martín-Sánchez M,Antiñolo G,Borrego S

更新日期：2015-10-05 00:00:00

abstract：BACKGROUND:Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele ...

journal_title：BMC medical genetics

authors： Grimsby JL,Porneala BC,Vassy JL,Yang Q,Florez JC,Dupuis J,Liu T,Yesupriya A,Chang MH,Ned RM,Dowling NF,Khoury MJ,Meigs JB,MAGIC Investigators.

更新日期：2012-04-27 00:00:00

abstract：BACKGROUND:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...

journal_title：BMC medical genetics

authors： Juhanson P,Kepp K,Org E,Veldre G,Kelgo P,Rosenberg M,Viigimaa M,Laan M

更新日期：2008-04-10 00:00:00

abstract：BACKGROUND:MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic v...

journal_title：BMC medical genetics

authors： Chacon-Cortes D,Smith RA,Haupt LM,Lea RA,Youl PH,Griffiths LR

更新日期：2015-11-17 00:00:00

abstract：BACKGROUND:Mitotic recombination is important for inactivating tumour suppressor genes by copy-neutral loss of heterozygosity (LOH). Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21) is mutated in most colorectal tumours and its usual mode of LOH is m...

journal_title：BMC medical genetics

authors： Howarth K,Ranta S,Winter E,Teixeira A,Schaschl H,Harvey JJ,Rowan A,Jones A,Spain S,Clark S,Guenther T,Stewart A,Silver A,Tomlinson I

更新日期：2009-06-10 00:00:00

abstract：BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...

journal_title：BMC medical genetics

authors： Li HY,Zhou T,Lin S,Lin W

更新日期：2019-06-25 00:00:00

abstract：BACKGROUND:DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven primarily by the I.4 promoter however the role of DNA methylation in regulating expression in ex vi...

journal_title：BMC medical genetics

authors： Lewis JR,McNab TJ,Liew LJ,Tan J,Hudson P,Wang JZ,Prince RL

更新日期：2013-08-30 00:00:00

abstract：BACKGROUND:Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of th...

journal_title：BMC medical genetics

authors： Baasanjav S,Jamsheer A,Kolanczyk M,Horn D,Latos T,Hoffmann K,Latos-Bielenska A,Mundlos S

更新日期：2010-07-09 00:00:00

abstract：BACKGROUND:PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conv...

journal_title：BMC medical genetics

authors： Zhang Z,Huang TL,Ma J,He WJ,Gu H

更新日期：2019-11-14 00:00:00

abstract：BACKGROUND:Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been ...

journal_title：BMC medical genetics

authors： Hemminki K,Li X,Försti A,Sundquist J,Sundquist K

更新日期：2013-09-03 00:00:00

abstract：BACKGROUND:Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol metabolism, is associated with this disease. Liver X receptors alpha (NR1H3, also known as LXRalpha) an...

journal_title：BMC medical genetics

authors： Mouzat K,Mercier E,Polge A,Evrard A,Baron S,Balducchi JP,Brouillet JP,Lumbroso S,Gris JC

更新日期：2011-10-26 00:00:00

abstract：BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....

journal_title：BMC medical genetics

authors： Schultz-Rogers L,Muthusamy K,Pinto E Vairo F,Klee EW,Lanpher B

更新日期：2020-11-10 00:00:00

abstract：BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including geneti...

journal_title：BMC medical genetics

authors： Shen H,Huang H,Luo K,Yi Y,Shi X

更新日期：2019-05-24 00:00:00

abstract：BACKGROUND:Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...

journal_title：BMC medical genetics

authors： Xiang X,Yuan D,Kong P,Chen T,Yao H,Lin S,Zhang X,Cao H

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...

journal_title：BMC medical genetics

authors： Keyser RJ,van der Merwe L,Venter M,Kinnear C,Warnich L,Carr J,Bardien S

更新日期：2009-10-13 00:00:00

abstract：BACKGROUND:The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of...

journal_title：BMC medical genetics

authors： Hersmus R,Stoop H,Turbitt E,Oosterhuis JW,Drop SL,Sinclair AH,White SJ,Looijenga LH

更新日期：2012-11-16 00:00:00

abstract：BACKGROUND:Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defin...

journal_title：BMC medical genetics

authors： Kelempisioti A,Eskola PJ,Okuloff A,Karjalainen U,Takatalo J,Daavittila I,Niinimäki J,Sequeiros RB,Tervonen O,Solovieva S,Kao PY,Song YQ,Cheung KM,Chan D,Ala-Kokko L,Järvelin MR,Karppinen J,Männikkö M

更新日期：2011-11-22 00:00:00

abstract：BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...

journal_title：BMC medical genetics

authors： Sun S,Dong H,Yan T,Li J,Liu B,Shao P,Li J,Liang C

更新日期：2020-06-29 00:00:00

abstract：BACKGROUND:Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Rece...

journal_title：BMC medical genetics

authors： Aoyama KI,Kimura M,Yamazaki H,Uchibori M,Kojima R,Osawa Y,Hosomichi K,Ota Y,Tanaka M,Yamada S,Nishimura G

更新日期：2019-07-16 00:00:00

abstract：BACKGROUND:Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in North Africa. However, th...

journal_title：BMC medical genetics

authors： Okizuka Y,Takeshima Y,Itoh K,Zhang Z,Awano H,Maruyama K,Kumagai T,Yagi M,Matsuo M

更新日期：2010-03-30 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been pre...

journal_title：BMC medical genetics

authors： Ramagopalan SV,Dyment DA,Morrison KM,Herrera BM,Deluca GC,Lincoln MR,Orton SM,Handunnetthi L,Chao MJ,Sadovnick AD,Ebers GC

更新日期：2008-07-07 00:00:00

abstract：BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...

journal_title：BMC medical genetics

authors： Gutiérrez-Aguilar R,Benmezroua Y,Vaillant E,Balkau B,Marre M,Charpentier G,Sladek R,Froguel P,Neve B

更新日期：2007-08-09 00:00:00

abstract：BACKGROUND:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...

journal_title：BMC medical genetics

authors： Alías L,Crespi J,González-Quereda L,Téllez J,Martínez E,Bernal S,Gallano MP

更新日期：2018-05-11 00:00:00

abstract：BACKGROUND:Vitamin D has been shown to exert manifold immunomodulatory effects. Type 1 diabetes mellitus (T1DM) is regarded to be immune-mediated and vitamin D prevents the development of diabetes in the NOD mouse. We studied the association between T1DM and the initiation codon polymorphism in exon 2 of the vitamin D ...

journal_title：BMC medical genetics

authors： Ban Y,Taniyama M,Yanagawa T,Yamada S,Maruyama T,Kasuga A,Ban Y

更新日期：2001-01-01 00:00:00