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::Schwannomas are common peripheral nerve sheath tumors that can cause debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3688
更新日期:2016-11-01 00:00:00
abstract::High rates of APOBEC-signature mutations are found in many tumors, but factors affecting this mutation pattern are not well understood. Here we explored the contribution of two common germline variants in the APOBEC3 region. SNP rs1014971 was associated with bladder cancer risk, increased APOBEC3B expression, and enri...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3670
更新日期:2016-11-01 00:00:00
abstract::Intestinal microbiota is known to be important in health and disease. Its composition is influenced by both environmental and host factors. Few large-scale studies have evaluated the association between host genetic variation and the composition of microbiota. We recruited a cohort of 1,561 healthy individuals, of who...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3693
更新日期:2016-11-01 00:00:00
abstract::Long noncoding RNAs (lncRNAs) are prevalent genes with frequently precise regulation but mostly unknown functions. Here we demonstrate that lncRNAs guide the organismal DNA damage response. DNA damage activated transcription of the DINO (Damage Induced Noncoding) lncRNA via p53. DINO was required for p53-dependent gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3673
更新日期:2016-11-01 00:00:00
abstract::Maize production is threatened by drought stress worldwide. Identification of the genetic components underlying drought tolerance in maize is of great importance. Here we report a genome-wide association study (GWAS) of maize drought tolerance at the seedling stage that identified 83 genetic variants, which were resol...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3636
更新日期:2016-10-01 00:00:00
abstract::G-quadruplex (G4) structural motifs have been linked to transcription, replication and genome instability and are implicated in cancer and other diseases. However, it is crucial to demonstrate the bona fide formation of G4 structures within an endogenous chromatin context. Herein we address this through the developmen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3662
更新日期:2016-10-01 00:00:00
abstract::Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in riboso...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3661
更新日期:2016-10-01 00:00:00
abstract::After domestication, during a process of widespread range extension, barley adapted to a broad spectrum of agricultural environments. To explore how the barley genome responded to the environmental challenges it encountered, we sequenced the exomes of a collection of 267 georeferenced landraces and wild accessions. A ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3612
更新日期:2016-09-01 00:00:00
abstract::To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3621
更新日期:2016-09-01 00:00:00
abstract::Genome-wide association studies have identified several loci associated with pancreatic cancer risk; however, the mechanisms by which genetic factors influence the development of sporadic pancreatic cancer remain largely unknown. Here, by using genome-wide association analysis and functional characterization, we ident...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3568
更新日期:2016-07-01 00:00:00
abstract::Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3601
更新日期:2016-06-28 00:00:00
abstract::Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance understanding of the atherogenicity of lipid fractions. Using a large resource of whole-genome sequence data, we examined rare and low-frequency variants for association with non-HDL cholesterol, HDL cholesterol, LDL cholesterol, an...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3561
更新日期:2016-06-01 00:00:00
abstract::The ages of puberty, first sexual intercourse and first birth signify the onset of reproductive ability, behavior and success, respectively. In a genome-wide association study of 125,667 UK Biobank participants, we identify 38 loci associated (P < 5 × 10(-8)) with age at first sexual intercourse. These findings were t...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3551
更新日期:2016-06-01 00:00:00
abstract::To compare lung adenocarcinoma (ADC) and lung squamous cell carcinoma (SqCC) and to identify new drivers of lung carcinogenesis, we examined the exome sequences and copy number profiles of 660 lung ADC and 484 lung SqCC tumor-normal pairs. Recurrent alterations in lung SqCCs were more similar to those of other squamou...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3564
更新日期:2016-06-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human complex traits. However, the genes or functional DNA elements through which these variants exert their effects on the traits are often unknown. We propose a method (called SMR) that integrates summary-level data ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3538
更新日期:2016-05-01 00:00:00
abstract::Antibiotic resistance is an increasingly serious public health threat. Understanding pathways allowing bacteria to survive antibiotic stress may unveil new therapeutic targets. We explore the role of the bacterial epigenome in antibiotic stress survival using classical genetic tools and single-molecule real-time seque...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3530
更新日期:2016-05-01 00:00:00
abstract::Current efforts in cellular disease modeling and regenerative medicine are limited by the paucity of cell types that can be generated in the laboratory. A new study introduces a computational framework, Mogrify, that uses network biology to predict combinations of transcription factors necessary for direct conversion ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng.3516
更新日期:2016-03-01 00:00:00
abstract::Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3488
更新日期:2016-03-01 00:00:00
abstract::Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3502
更新日期:2016-03-01 00:00:00
abstract::Influenza A virus is characterized by high genetic diversity. However, most of what is known about influenza evolution has come from consensus sequences sampled at the epidemiological scale that only represent the dominant virus lineage within each infected host. Less is known about the extent of within-host virus div...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3479
更新日期:2016-02-01 00:00:00
abstract::The plant circadian clock is a complex network of genes crucial for plant survival. A new study finds that domestication gradually slowed down the circadian clock of tomato via selection on two major genes-one that delayed phasing of the clock with daylight, whereas the other induced a longer period. ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3476
更新日期:2016-01-01 00:00:00
abstract::Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3465
更新日期:2016-01-01 00:00:00
abstract::Small nucleolar RNAs (snoRNAs) are conserved noncoding RNAs best studied as ribonucleoprotein (RNP) guides in RNA modification. To explore their role in cancer, we compared 5,473 tumor-normal genome pairs to identify snoRNAs with frequent copy number loss. The SNORD50A-SNORD50B snoRNA locus was deleted in 10-40% of 12...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3452
更新日期:2016-01-01 00:00:00
abstract::The genome sequence assembly of the highly heterozygous Ananas comosus and its varieties is an impressive technical achievement. The sequence opens the door to a greater understanding of pineapple morphology and evolution. ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3450
更新日期:2015-12-01 00:00:00
abstract::Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3417
更新日期:2015-12-01 00:00:00
abstract::Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3444
更新日期:2015-12-01 00:00:00
abstract::Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3426
更新日期:2015-11-01 00:00:00
abstract::Although Burkitt lymphomas and follicular lymphomas both have features of germinal center B cells, they are biologically and clinically quite distinct. Here we performed whole-genome bisulfite, genome and transcriptome sequencing in 13 IG-MYC translocation-positive Burkitt lymphoma, nine BCL2 translocation-positive fo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3413
更新日期:2015-11-01 00:00:00
abstract::The Polycomb repressive complexes PRC1 and PRC2 maintain embryonic stem cell (ESC) pluripotency by silencing lineage-specifying developmental regulator genes. Emerging evidence suggests that Polycomb complexes act through controlling spatial genome organization. We show that PRC1 functions as a master regulator of mou...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3393
更新日期:2015-10-01 00:00:00
abstract::The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng.3411
更新日期:2015-10-01 00:00:00
abstract::No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3380
更新日期:2015-10-01 00:00:00
abstract::Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications. Within this network, we experimentally confirme...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3371
更新日期:2015-09-01 00:00:00
abstract::We report on whole-exome sequencing (WES) of 213 melanomas. Our analysis established NF1, encoding a negative regulator of RAS, as the third most frequently mutated gene in melanoma, after BRAF and NRAS. Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older pa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3361
更新日期:2015-09-01 00:00:00
abstract::Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3336
更新日期:2015-08-01 00:00:00
abstract::The deployment of heterosis in the form of hybrid rice varieties has boosted grain yield, but grain quality improvement still remains a challenge. Here we show that a quantitative trait locus for rice grain quality, qGW7, reflects allelic variation of GW7, a gene encoding a TONNEAU1-recruiting motif protein with simil...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3352
更新日期:2015-08-01 00:00:00
abstract::Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3340
更新日期:2015-08-01 00:00:00
abstract::Pituitary adenoma is one of the most common intracranial neoplasms, and its genetic basis remains largely unknown. To identify genetic susceptibility loci for sporadic pituitary adenoma, we performed a three-stage genome-wide association study (GWAS) in the Han Chinese population. We first analyzed genome-wide SNP dat...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3322
更新日期:2015-07-01 00:00:00
abstract::How the human brain rapidly builds up its lipid content during brain growth and maintains its lipids in adulthood has remained elusive. Two new studies show that inactivating mutations in MFSD2A, known to be expressed specifically at the blood-brain barrier, lead to microcephaly, thereby offering a simple and surprisi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3348
更新日期:2015-07-01 00:00:00
abstract::Global warming threatens many aspects of human life, for example, by reducing crop yields. Breeding heat-tolerant crops using genes conferring thermotolerance is a fundamental way to help deal with this challenge. Here we identify a major quantitative trait locus (QTL) for thermotolerance in African rice (Oryza glaber...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3305
更新日期:2015-07-01 00:00:00
abstract::Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associat...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3268
更新日期:2015-06-01 00:00:00