解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1476-7
更新日期:2014-10-01 00:00:00
abstract::Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these ge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1464-y
更新日期:2014-10-01 00:00:00
abstract::Variability in the susceptibility to infectious disease and its clinical manifestation can be determined by variation in the environment and by genetic variation in the pathogen and the host. Despite several successes based on candidate gene studies, defining the host variation affecting infectious disease has not bee...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1457-x
更新日期:2014-10-01 00:00:00
abstract::Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to ide...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1448-y
更新日期:2014-09-01 00:00:00
abstract::Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of some genomic regions. We propose normative inversion of face shape, oppo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1455-z
更新日期:2014-09-01 00:00:00
abstract::Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection. In particular, genes encoding human leukocyte antigens (HLA) have various alleles, haplotypes, or specif...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1465-x
更新日期:2014-09-01 00:00:00
abstract::Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Viet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1430-8
更新日期:2014-07-01 00:00:00
abstract::Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1436-2
更新日期:2014-07-01 00:00:00
abstract::Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1421-9
更新日期:2014-07-01 00:00:00
abstract::The precise control of gene expression programs is crucial for the establishment of the diverse gene activity patterns required for the correct development, patterning and differentiation of the myriad of cell types within an organism. The crucial importance of non-coding regions of the genome in the control of gene r...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1424-6
更新日期:2014-07-01 00:00:00
abstract::Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to ...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-013-1411-3
更新日期:2014-06-01 00:00:00
abstract::Trisomy 21 (Down syndrome, DS) is the most common human genetic anomaly associated with heart defects. Based on evolutionary conservation, DS-associated heart defects have been modeled in mice. By generating and analyzing mouse mutants carrying different genomic rearrangements in human chromosome 21 (Hsa21) syntenic r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1407-z
更新日期:2014-06-01 00:00:00
abstract::Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1416-y
更新日期:2014-06-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1395-z
更新日期:2014-05-01 00:00:00
abstract::Databases of disease-associated or disease-causing mutations allow the study, not only of the molecular mechanisms underlying the primary lesions at the DNA level, but also of the functional consequences of mutation at the phenotypic level. The Human Gene Mutation Database (HGMD) and the bioinformatics analyses of its...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-013-1396-y
更新日期:2014-04-01 00:00:00
abstract::Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1380-6
更新日期:2014-03-01 00:00:00
abstract::Despite the family aggregation of severe teenage acne, the genetic basis of this common skin condition remains unclear. We conducted a genome-wide association study (GWAS) on severe teenage acne in 928 European Americans. The SNP rs4133274 on chromosome 8q24 (72 kb upstream of MYC) revealed the most significant associ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1374-4
更新日期:2014-03-01 00:00:00
abstract::Gene-gene and gene-environment interactions govern a substantial portion of the variation in complex traits and diseases. In convention, a set of either unrelated or family samples are used in detection of such interactions; even when both kinds of data are available, the unrelated and the family samples are analyzed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1361-9
更新日期:2014-02-01 00:00:00
abstract::Uterine fibroids (UFs) affect 77 % of women by menopause and account for $9.4 billion in yearly healthcare costs. We recently replicated findings from the first UF genome-wide association study (GWAS), conducted in the Japanese. Here we tested these GWAS-discovered SNPs for association with UF characteristics to furth...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1340-1
更新日期:2013-12-01 00:00:00
abstract::It is commonly acknowledged that estimates of heritability from classical twin studies have many potential shortcomings. Despite this, in the post-GWAS era, these heritability estimates have come to be a continual source of interest and controversy. While the heritability estimates of a quantitative trait are subject ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1334-z
更新日期:2013-12-01 00:00:00
abstract::Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR patients. In this s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1338-8
更新日期:2013-12-01 00:00:00
abstract::As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1335-y
更新日期:2013-11-01 00:00:00
abstract::Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1323-2
更新日期:2013-11-01 00:00:00
abstract::Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1326-z
更新日期:2013-11-01 00:00:00
abstract::Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1333-0
更新日期:2013-11-01 00:00:00
abstract::Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic fo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1322-3
更新日期:2013-10-01 00:00:00
abstract::Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1320-5
更新日期:2013-10-01 00:00:00
abstract::Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to con...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1289-0
更新日期:2013-07-01 00:00:00
abstract::Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-013-1298-z
更新日期:2013-07-01 00:00:00
abstract::Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1274-7
更新日期:2013-06-01 00:00:00
abstract::Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1264-9
更新日期:2013-04-01 00:00:00
abstract::Genetic factors play important roles in the development of tuberculosis (TB). SP110 is a promising candidate target for controlling TB infections. However, several studies associating SP110 single nucleotide polymorphisms (SNPs) with TB have yielded conflicting results. This may be partly resolved by studying other ge...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-012-1244-5
更新日期:2013-03-01 00:00:00
abstract::Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-012-1223-x
更新日期:2013-01-01 00:00:00
abstract::Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1184-0
更新日期:2012-11-01 00:00:00
abstract::After an association between genetic variants and a phenotype has been established, further study goals comprise the classification of patients according to disease risk or the estimation of disease probability. To accomplish this, different statistical methods are required, and specifically machine-learning approache...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1194-y
更新日期:2012-10-01 00:00:00
abstract::Heritability, the fraction of phenotypic variation explained by genetic variation, has been estimated for many phenotypes in a range of populations, organisms, and time points. The recent development of efficient genotyping and sequencing technology has led researchers to attempt to identify the genetic variants respo...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1199-6
更新日期:2012-10-01 00:00:00
abstract::High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences. One of its most prominent applications is the sequencing of whole genomes or targeted regions of the genome such as all exonic regions (i.e., the exome). Here, the objective is the identification of genetic variants such as single n...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1213-z
更新日期:2012-10-01 00:00:00
abstract::Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1179-x
更新日期:2012-09-01 00:00:00
abstract::This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1131-5
更新日期:2012-07-01 00:00:00
abstract::Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1140-z
更新日期:2012-07-01 00:00:00