Exome sequencing in one family with gastric- and rectal cancer.

abstract：BACKGROUND:Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease, was found to be a compound heterozygote for a splice mutation, IVS6-1g->t, and a putative missense...

journal_title：BMC genetics

authors： Dreumont N,Poudrier JA,Bergeron A,Levy HL,Baklouti F,Tanguay RM

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:The search to identify disease-susceptible genes requires access to biological material from numerous well-characterized subjects. Archived residual dried blood spot (DBS) samples, also known as Guthrie cards, from national newborn screening programs may provide a DNA source for entire populations. Combined ...

journal_title：BMC genetics

authors： Hollegaard MV,Grove J,Grauholm J,Kreiner-Møller E,Bønnelykke K,Nørgaard M,Benfield TL,Nørgaard-Pedersen B,Mortensen PB,Mors O,Sørensen HT,Harboe ZB,Børglum AD,Demontis D,Ørntoft TF,Bisgaard H,Hougaard DM

更新日期：2011-07-04 00:00:00

abstract：BACKGROUND:Discerning the traits evolving under neutral conditions from those traits evolving rapidly because of various selection pressures is a great challenge. We propose a new method, composite selection signals (CSS), which unifies the multiple pieces of selection evidence from the rank distribution of its diverse...

journal_title：BMC genetics

authors： Randhawa IA,Khatkar MS,Thomson PC,Raadsma HW

更新日期：2014-03-17 00:00:00

abstract：BACKGROUND:Body size traits as one of the main breeding selection criteria was widely used to monitor cattle growth and to evaluate the selection response. In this study, body size was defined as body height (BH), body length (BL), hip height (HH), heart size (HS), abdominal size (AS), and cannon bone size (CS). We per...

journal_title：BMC genetics

authors： An B,Xu L,Xia J,Wang X,Miao J,Chang T,Song M,Ni J,Xu L,Zhang L,Li J,Gao H

更新日期：2020-03-14 00:00:00

abstract：BACKGROUND:Population stratification can cause spurious associations in a genome-wide association study (GWAS), and occurs when differences in allele frequencies of single nucleotide polymorphisms (SNPs) are due to ancestral differences between cases and controls rather than the trait of interest. Principal components ...

journal_title：BMC genetics

authors： Solovieff N,Hartley SW,Baldwin CT,Perls TT,Steinberg MH,Sebastiani P

更新日期：2010-12-09 00:00:00

abstract：BACKGROUND:The Gpnmb gene encodes a transmembrane protein whose function(s) remain largely unknown. Here, we assess if a mutant allele of Gpnmb confers susceptibility to glaucoma by altering immune functions. DBA/2J mice have a mutant Gpnmb gene and they develop a form of glaucoma preceded by a pigment dispersing iris ...

journal_title：BMC genetics

authors： Anderson MG,Nair KS,Amonoo LA,Mehalow A,Trantow CM,Masli S,John SW

更新日期：2008-04-10 00:00:00

abstract：:The purpose of these analyses was to determine if incorporating or adjusting for covariates in genetic analyses helped or hindered in genetic analyses, specifically heritability and linkage analyses. To study this question, two types of covariate models were used in the simulated Genetic Analysis Workshop 14 dataset i...

journal_title：BMC genetics

authors： Bailey JN

更新日期：2005-12-30 00:00:00

abstract：BACKGROUND:Despite several thousands of years of close contacts, there are genetic differences between the neighbouring countries of Finland and Sweden. Within Finland, signs of an east-west duality have been observed, whereas the population structure within Sweden has been suggested to be more subtle. With a fine-scal...

journal_title：BMC genetics

authors： Hannelius U,Salmela E,Lappalainen T,Guillot G,Lindgren CM,von Döbeln U,Lahermo P,Kere J

更新日期：2008-08-19 00:00:00

abstract：BACKGROUND:Despite the emergence of stereotactic body radiotherapy (SBRT) for treatment of medically inoperable early-stage non-small-cell lung cancer patients, the molecular effects of focal exposure of limited lung volumes to high-dose radiation have not been fully characterized. This study was designed to identify m...

journal_title：BMC genetics

authors： Kim BY,Jin H,Lee YJ,Kang GY,Cho J,Lee YS

更新日期：2016-01-27 00:00:00

abstract：BACKGROUND:The SnRKs (sucrose non-fermenting 1 related protein kinase) are a gene family coding for Ser/Thr protein kinases and play important roles in linking the tolerance and metabolic responses of plants to abiotic stresses. To date, no genome-wide characterization of the sucrose non-ferment 1 related protein kinas...

journal_title：BMC genetics

authors： Bai J,Mao J,Yang H,Khan A,Fan A,Liu S,Zhang J,Wang D,Gao H,Zhang J

更新日期：2017-05-15 00:00:00

abstract：BACKGROUND:The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior, particularly empathy and parenting. The goal of this study was to estimate the gender and population differences in polymorphisms of two oxytocin receptor gene SNPs, rs53576 and rs2254298, in four populations. R...

journal_title：BMC genetics

authors： Butovskaya PR,Lazebny OE,Sukhodolskaya EM,Vasiliev VA,Dronova DA,Fedenok JN,Rosa A,Peletskaya EN,Ryskov AP,Butovskaya ML

更新日期：2016-01-06 00:00:00

abstract：BACKGROUND:Field pea (Pisum sativum L.) is among the prominent crops in the world as food and feed. There are relatively few simple sequence repeat (SSR) markers developed from expressed sequence tags (ESTs) in P. sativum. RESULTS:In the present study, 15 new EST-SSR markers were developed from publicly available ESTs...

journal_title：BMC genetics

authors： Teshome A,Bryngelsson T,Dagne K,Geleta M

更新日期：2015-08-19 00:00:00

abstract：BACKGROUND:The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a...

journal_title：BMC genetics

authors： Yang WJ,Yan AZ,Xu YJ,Guo XY,Fu XG,Li D,Liao J,Zhang D,Lan FH

更新日期：2020-06-18 00:00:00

abstract：BACKGROUND:Arabian horses are commonly believed to be one of the oldest and the most popular horse breeds in the world, characterized by favourable stamina traits and exercise phenotypes. During intensive training, the rates of lactate production and utilization are critical to avoid muscle fatigue and a decrease in ex...

journal_title：BMC genetics

authors： Ropka-Molik K,Stefaniuk-Szmukier M,Szmatoła T,Piórkowska K,Bugno-Poniewierska M

更新日期：2019-09-11 00:00:00

abstract：BACKGROUND:Selecting chromosome substitution strains (CSSs, also called consomic strains/lines) used in the search for quantitative trait loci (QTLs) consistently requires the identification of the respective phenotypic trait of interest and is simply based on a significant difference between a consomic and host strain...

journal_title：BMC genetics

authors： Labots M,Laarakker MC,Ohl F,van Lith HA

更新日期：2016-06-29 00:00:00

abstract：BACKGROUND:Koala (Koa) is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inver...

journal_title：BMC genetics

authors： Katayama K,Miyamoto S,Furuno A,Akiyama K,Takahashi S,Suzuki H,Tsuji T,Kunieda T

更新日期：2009-09-22 00:00:00

abstract：BACKGROUND:Feed efficiency is one of the major components determining costs of animal production. Residual feed intake (RFI) is defined as the difference between the observed and the expected feed intake given a certain production. Residual feed intake 1 (RFI1) was calculated based on regression of individual daily fee...

journal_title：BMC genetics

authors： Do DN,Ostersen T,Strathe AB,Mark T,Jensen J,Kadarmideen HN

更新日期：2014-02-17 00:00:00

abstract：BACKGROUND:Meta-analysis is a popular methodology in several fields of medical research, including genetic association studies. However, the methods used for meta-analysis of association studies that report haplotypes have not been studied in detail. In this work, methods for performing meta-analysis of haplotype assoc...

journal_title：BMC genetics

authors： Bagos PG

更新日期：2011-01-19 00:00:00

abstract：BACKGROUND:There have been inconsistent results from case-control studies assessing the association of the PON1 Q192R polymorphism with coronary heart disease (CHD). Most studies have included predominantly men and the association in women is unclear. Since lipid levels vary between the sexes the antioxidant effect of ...

journal_title：BMC genetics

authors： Lawlor DA,Day IN,Gaunt TR,Hinks LJ,Briggs PJ,Kiessling M,Timpson N,Smith GD,Ebrahim S

更新日期：2004-06-23 00:00:00

abstract：BACKGROUND:Africa is home to numerous cattle breeds whose diversity has been shaped by subtle combinations of human and natural selection. African Sanga cattle are an intermediate type of cattle resulting from interbreeding between Bos taurus and Bos indicus subspecies. Recently, research has asserted the potential of ...

journal_title：BMC genetics

authors： Taye M,Kim J,Yoon SH,Lee W,Hanotte O,Dessie T,Kemp S,Mwai OA,Caetano-Anolles K,Cho S,Oh SJ,Lee HK,Kim H

更新日期：2017-02-09 00:00:00

abstract：BACKGROUND:Compared to model-based approaches, nonparametric methods for quantitative trait loci mapping are more robust to deviations in distributional assumptions. In this study, we modify a nonparametric regression method and the "contrast function"- based regression method to analyze total cholesterol level in the ...

journal_title：BMC genetics

authors： Ghosh S,Bertelsen S,Reich T

更新日期：2003-12-31 00:00:00

abstract：BACKGROUND:Boar taint is an unpleasant condition of pork, mainly due to the accumulation of androstenone and skatole in male pigs at onset of puberty. This condition is the cause of considerable economic losses in the pig industry and the most common practice to control it is to castrate male piglets. Because of the ec...

journal_title：BMC genetics

authors： Ramos AM,Duijvesteijn N,Knol EF,Merks JW,Bovenhuis H,Crooijmans RP,Groenen MA,Harlizius B

更新日期：2011-04-20 00:00:00

abstract：:Previous genome scan linkage analyses of the disease Kofendrerd Personality Disorder (KPD) with microsatellites led to detect some regions on chromosomes 1, 3, 5, and 9 that were identical for the three populations AI, KA, and DA but with large differences in significance levels. These differences in results may be ex...

journal_title：BMC genetics

authors： Dizier MH,Génin E,Babron MC,Bourgain C

更新日期：2005-12-30 00:00:00

abstract：BACKGROUND:Sesame (Sesamum indicum L.) is one of the four major oil crops in China. A sesame core collection (CC) was established in China in 2000, but no complete study on its genetic diversity has been carried out at either the phenotypic or molecular level. To provide technical guidance, a theoretical basis for furt...

journal_title：BMC genetics

authors： Zhang Y,Zhang X,Che Z,Wang L,Wei W,Li D

更新日期：2012-11-15 00:00:00

abstract：BACKGROUND:Relatively little information is available for sequence variation in the pig. We previously used a combination of short read (25 base pair) high-throughput sequencing and reduced genomic representation to discover > 60,000 single nucleotide polymorphisms (SNP) in cattle, but the current lack of complete geno...

journal_title：BMC genetics

authors： Wiedmann RT,Smith TP,Nonneman DJ

更新日期：2008-12-04 00:00:00

abstract：BACKGROUND:Japanese Black cattle are a beef breed whose meat is well known to excel in meat quality, especially in marbling, and whose effective population size is relatively low in Japan. Unlike dairy cattle, the accuracy of genomic evaluation (GE) for carcass traits in beef cattle, including this breed, has been poor...

journal_title：BMC genetics

authors： Ogawa S,Matsuda H,Taniguchi Y,Watanabe T,Nishimura S,Sugimoto Y,Iwaisaki H

更新日期：2014-02-03 00:00:00

abstract：BACKGROUND:Foxtail millet (Setaria italica) is a diploid C4 panicoid species. Because of its prominent drought resistance, small genome size, self-pollination, and short life cycle, foxtail millet has become an ideal model system for studying drought tolerance of crops. MicroRNAs (miRNAs) are endogenous, small RNAs tha...

journal_title：BMC genetics

authors： Wang Y,Li L,Tang S,Liu J,Zhang H,Zhi H,Jia G,Diao X

更新日期：2016-04-12 00:00:00

abstract：BACKGROUND:Etl4(lacZ) (Enhancer trap locus 4) and Skt(Gt) (Sickle tail) are lacZ reporter gene integrations into the same locus on mouse chromosome 2 targeting a gene that is expressed in the notochord of early embryos and in multiple epithelia during later development. Both insertions caused recessive mutations that r...

journal_title：BMC genetics

authors： Serth K,Beckers A,Schuster-Gossler K,Pavlova MN,Müller J,Paul MC,Reinhardt R,Gossler A

更新日期：2015-12-18 00:00:00

abstract：BACKGROUND:This study aimed to explore the molecular mechanism of estrogen-mediated neuroprotection in the relief of cerebral ischemic injury. The gene expression profiles were downloaded from Gene Expression Omnibus database, and differentially expressed genes (DEGs) were identified using limma package in R software. ...

journal_title：BMC genetics

authors： He J,Gao Y,Wu G,Lei X,Zhang Y,Pan W,Yu H

更新日期：2018-07-20 00:00:00

abstract：BACKGROUND:Epidemiological studies have indicated that obesity and low high-density lipoprotein (HDL) levels are strong cardiovascular risk factors, and that these traits are inversely correlated. Despite the belief that these traits are correlated in part due to pleiotropy, knowledge on specific genes commonly affecti...

journal_title：BMC genetics

authors： Arya R,Lehman D,Hunt KJ,Schneider J,Almasy L,Blangero J,Stern MP,Duggirala R,Framingham Heart Study.

更新日期：2003-12-31 00:00:00