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::Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02248-x
更新日期:2021-01-12 00:00:00
abstract::Genetics-associated asthenoteratozoospermia is often seen in patients with multiple morphological abnormalities of the sperm flagella (MMAF). Although 24 causative genes have been identified, these explain only approximately half of patients with MMAF. Since sperm flagella and motile cilia (especially respiratory cili...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02241-4
更新日期:2021-01-03 00:00:00
abstract::COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02197-5
更新日期:2020-12-01 00:00:00
abstract::The homeodomain transcription factors (TFs) Pax6 (OMIM: 607108) and Prox1 (OMIM: 601546) critically regulate gene expression in lens development. While PAX6 mutations in humans can cause cataract, aniridia, microphthalmia, and anophthalmia, among other defects, Prox1 deletion in mice causes severe lens abnormalities, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02195-7
更新日期:2020-12-01 00:00:00
abstract::Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02236-1
更新日期:2020-11-19 00:00:00
abstract::The development of next-generation sequencing technologies has opened-up some new possibilities to explore the contribution of genetic variants to human diseases and in particular that of rare variants. Statistical methods have been developed to test for association with rare variants that require the definition of te...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02190-y
更新日期:2020-11-01 00:00:00
abstract::Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesiz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02172-0
更新日期:2020-10-01 00:00:00
abstract::Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 614826), have been m...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02156-0
更新日期:2020-08-01 00:00:00
abstract::Extensive studies have been conducted on the analysis of genome function, especially on the expression quantitative trait loci (eQTL). These studies offered promising results for characterization of the functional sequencing variation and understanding of the basic processes of gene regulation. Parent of origin effect...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02162-2
更新日期:2020-08-01 00:00:00
abstract::Genome-wide association studies (GWAS) have been successful in identifying and confirming novel genetic variants that are associated with diverse HIV phenotypes. However, these studies have predominantly focused on European cohorts. HLA molecules have been consistently associated with HIV outcomes, some of which have ...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02177-9
更新日期:2020-06-01 00:00:00
abstract::Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02131-9
更新日期:2020-06-01 00:00:00
abstract::Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02135-5
更新日期:2020-05-01 00:00:00
abstract::Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02143-5
更新日期:2020-05-01 00:00:00
abstract::We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02121-x
更新日期:2020-04-01 00:00:00
abstract::Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing loss have been reported to have been missed by newborn hearing screens. The aim of this study was to evaluate the efficacy of concurrent hear...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-020-02118-6
更新日期:2020-04-01 00:00:00
abstract::Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-02031-7
更新日期:2020-03-01 00:00:00
abstract::Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02067-9
更新日期:2020-03-01 00:00:00
abstract::Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X synd...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02104-7
更新日期:2020-02-01 00:00:00
abstract::Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02113-x
更新日期:2020-01-16 00:00:00
abstract::Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Aus...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02062-0
更新日期:2019-12-01 00:00:00
abstract::Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02049-x
更新日期:2019-10-01 00:00:00
abstract::In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02053-1
更新日期:2019-10-01 00:00:00
abstract::High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02039-z
更新日期:2019-10-01 00:00:00
abstract::The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-02048-y
更新日期:2019-10-01 00:00:00
abstract::As new genes for A/M are identified in the genomic era, the number of syndromes associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the clinical presentation and molecular genetic etiology of previously characterized pathways involved in A/M, including the Sex-determining region Y-...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1949-1
更新日期:2019-09-01 00:00:00
abstract::Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1935-7
更新日期:2019-09-01 00:00:00
abstract::Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia,...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-01995-w
更新日期:2019-09-01 00:00:00
abstract::Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02030-8
更新日期:2019-07-01 00:00:00
abstract::Neural tube defects (NTD) result from complex mechanisms between genes, nutrition and environment. The identification of genetic predictors by genome exome sequencing and their influence on genome methylation need further consideration. Gene variants related to 1-CM metabolism (1-CM) could influence the methylation of...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02015-7
更新日期:2019-07-01 00:00:00
abstract::Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02024-6
更新日期:2019-07-01 00:00:00
abstract::Air pollution is recognized as causal factor for cardiovascular disease (CVD) and is associated with multiple CVD risk factors. Substantial research effort has been invested in understanding the linkages between genetic variation and CVD risk, resulting in over 50 CVD-associated genetic loci. More recently, gene-air p...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-02004-w
更新日期:2019-06-01 00:00:00
abstract::Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-01976-z
更新日期:2019-05-01 00:00:00
abstract::Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-01993-y
更新日期:2019-04-01 00:00:00
abstract::The author engages in further debate between numerous signatories of a letter who disputes that the author has put forward that the anticipated benefits of a personalised program for cancer prevention and screening are unwarranted. In the event that a cancer screening program is an effective means of mortality reducti...
journal_title:Human genetics
pub_type: 信件
doi:10.1007/s00439-019-01981-2
更新日期:2019-03-01 00:00:00
abstract:: ...
journal_title:Human genetics
pub_type: 信件
doi:10.1007/s00439-019-01984-z
更新日期:2019-03-01 00:00:00
abstract::Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-019-01972-3
更新日期:2019-02-01 00:00:00
abstract::ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1963-3
更新日期:2019-01-01 00:00:00
abstract::Despite the recent discover of genome-editing methods, today we can say these approaches have firmly entered our life. Two approaches-knocking out malfunctioning gene allele or correcting the mutation with precise knock-in-can be used in hereditary monogenic diseases treatment. The latter approach is relatively ineffe...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1953-5
更新日期:2019-01-01 00:00:00
abstract::NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the "NALCN channelosome", consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1929-5
更新日期:2018-09-01 00:00:00
abstract::With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1920-1
更新日期:2018-08-01 00:00:00