Abstract:
:In the past decade, numerous studies have made connections between sequence variants in human genomes and predisposition to complex diseases. However, most of these variants lie outside of the charted regions of the human genome whose function we understand; that is, the sequences that encode proteins. Consequently, the general concept of a mechanism that translates these variants into predisposition to diseases has been lacking, potentially calling into question the validity of these studies. Here we make a connection between the growing class of apparently functional RNAs that do not encode proteins and whose function we do not yet understand (the so-called 'dark matter' RNAs) and the disease-associated variants. We review advances made in a different genomic mapping effort - unbiased profiling of all RNA transcribed from the human genome - and provide arguments that the disease-associated variants exert their effects via perturbation of regulatory properties of non-coding RNAs existing in mammalian cells.
journal_name
BMC Medjournal_title
BMC medicineauthors
St Laurent G,Vyatkin Y,Kapranov Pdoi
10.1186/1741-7015-12-97subject
Has Abstractpub_date
2014-06-12 00:00:00pages
97issn
1741-7015pii
1741-7015-12-97journal_volume
12pub_type
杂志文章相关文献
BMC Medicine文献大全abstract:BACKGROUND:When an outbreak of a novel pathogen occurs, some of the most pressing questions from a public-health point of view relate to its transmissibility, and the probabilities of different clinical outcomes following infection, to allow an informed response. Estimates of these quantities are often based on househo...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/1741-7015-10-117
更新日期:2012-10-09 00:00:00
abstract::A series of primarily laboratory-based studies found attention bias modification in socially anxious participants to lead to reduced anxiety. It is argued that the failure to replicate the positive results of attention bias modification in the study of Carlbring et al. may be due to reasons other than the application ...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/1741-7015-10-63
更新日期:2012-06-25 00:00:00
abstract:BACKGROUND:Clinicians have known for centuries that there is substantial variability between patients in their response to medications-some individuals exhibit a miraculous recovery while others fail to respond at all. Still others experience dangerous side effects. The hunt for the factors responsible for this variati...
journal_title:BMC medicine
pub_type: 社论
doi:10.1186/s12916-016-0622-6
更新日期:2016-05-04 00:00:00
abstract::Acute kidney injury (AKI) is independently associated with increased morbidity and mortality. Ischemia is the leading cause of AKI, and short of supportive measures, no currently available therapy can effectively treat or prevent ischemic AKI. This paper discusses recent developments in the understanding of ischemic A...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/1741-7015-9-11
更新日期:2011-02-02 00:00:00
abstract::The original article [1] contained an error in the presentation of Figure 1; this error has now been rectified and Figure 1 is now presented correctly. ...
journal_title:BMC medicine
pub_type: 杂志文章,已发布勘误
doi:10.1186/s12916-018-1232-2
更新日期:2018-12-28 00:00:00
abstract:BACKGROUND:Multiple treatments are frequently available for a given condition, and clinicians and patients need a comprehensive, up-to-date synthesis of evidence for all competing treatments. We aimed to quantify the waste of research related to the failure of systematic reviews to provide a complete and up-to-date evi...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-016-0555-0
更新日期:2016-01-20 00:00:00
abstract:BACKGROUND:Several accomplishments have been achieved in triple-negative breast cancer (TNBC) research over the last year. The phase III IMpassion130 trial comparing chemotherapy plus atezolizumab versus chemotherapy plus placebo brought breast cancer into the immunotherapy era. Nevertheless, despite encouraging result...
journal_title:BMC medicine
pub_type: 杂志文章,评审
doi:10.1186/s12916-019-1326-5
更新日期:2019-05-09 00:00:00
abstract:BACKGROUND:The use of early morning sputum samples (EMS) to diagnose tuberculosis (TB) can result in treatment delay given the need for the patient to return to the clinic with the EMS, increasing the chance of patients being lost during their diagnostic workup. However, there is little evidence to support the superior...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-017-0947-9
更新日期:2017-10-27 00:00:00
abstract:BACKGROUND:Although neutrophils have been linked to the progression of cancer, uncertainty exists around their association with cancer outcomes, depending on the site, outcome and treatments considered. We aimed to evaluate the strength and validity of evidence on the association between either the neutrophil to lympho...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-020-01817-1
更新日期:2020-11-20 00:00:00
abstract:BACKGROUND:The Diagnostic and Statistical Manual fifth edition (DSM-5) provides new criteria for delirium diagnosis. We examined delirium diagnosis using these new criteria compared with the Diagnostic and Statistical Manual fourth edition (DSM-IV) in a large dataset of patients assessed for delirium and related presen...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-014-0164-8
更新日期:2014-09-30 00:00:00
abstract:BACKGROUND:Pancreatic cancer (PaC) remains extremely lethal worldwide even after resection. PaC resection rates are low, making prognostic studies in resected PaC difficult. This large international population-based study aimed at exploring factors associated with survival in patients with resected TNM stage I-II PaC r...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-019-1304-y
更新日期:2019-03-25 00:00:00
abstract::Breast cancer is the most common cause of cancer and cancer death worldwide. Although most patients present with localized breast cancer and may be rendered disease-free with local therapy, distant recurrence is common and is the primary cause of death from the disease. Adjuvant systemic therapies are effective in red...
journal_title:BMC medicine
pub_type: 杂志文章,评审
doi:10.1186/s12916-015-0439-8
更新日期:2015-08-17 00:00:00
abstract:BACKGROUND:Comorbidity between depressive and anxiety disorders is common. A hypothesis of the network perspective on psychopathology is that comorbidity arises due to the interplay of symptoms shared by both disorders, with overlapping symptoms acting as so-called bridges, funneling symptom activation between symptom ...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-020-01738-z
更新日期:2020-09-29 00:00:00
abstract:BACKGROUND:Clinical pathways (CPs) are used to improve the outcomes of acute stroke, but their use in stroke care is questionable, because the evidence on their effectiveness is still inconclusive. The objective of this study was to evaluate whether CPs improve the outcomes and the quality of care provided to patients ...
journal_title:BMC medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1186/1741-7015-10-71
更新日期:2012-07-10 00:00:00
abstract::Psychiatric nosology is widely criticized, but solutions are proving elusive. Planned revisions of diagnostic criteria will not resolve heterogeneity, comorbidity, fuzzy boundaries between normal and pathological, and lack of specific biomarkers. Concern about these difficulties reflects a narrow model that assumes mo...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/1741-7015-10-5
更新日期:2012-01-13 00:00:00
abstract:BACKGROUND:Polymorphism in antigens is a common mechanism for immune evasion used by many important pathogens, and presents major challenges in vaccine development. In malaria, many key immune targets and vaccine candidates show substantial polymorphism. However, knowledge on antigenic diversity of key antigens, the im...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-014-0183-5
更新日期:2014-10-16 00:00:00
abstract:BACKGROUND:Hyperlactataemia (HL) is a biomarker of disease severity that predicts mortality in patients with sepsis and malaria. Lactate clearance (LC) during resuscitation has been shown to be a prognostic factor of survival in critically ill adults, but little data exist for African children living in malaria-endemic...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-018-1014-x
更新日期:2018-03-09 00:00:00
abstract::Wheat, once thought to be a critical ingredient in a healthy diet, has become a major threat, according to public opinion. The term non-celiac gluten sensitivity has been widely adopted to describe a clinical entity characterized by symptoms induced by gluten without the diagnostic criteria found in other gluten-relat...
journal_title:BMC medicine
pub_type: 评论,杂志文章
doi:10.1186/1741-7015-12-86
更新日期:2014-05-23 00:00:00
abstract:BACKGROUND:Health-related research funders, regulators and journals expect that de-identified individual-level health data be shared widely, with as few restrictions as possible; yet, in reality, the volume of shared data remains low. MAIN BODY:Health researchers and other data producers are reluctant to share their d...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-019-1315-8
更新日期:2019-04-17 00:00:00
abstract:BACKGROUND:Alopecia areata (AA) is one of the most common autoimmune diseases and targets the hair follicles, with high impact on the quality of life and self-esteem of patients due to hair loss. Clinical management and outcomes are challenged by current limited immunosuppressive and immunomodulating regimens. METHODS...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-015-0331-6
更新日期:2015-04-20 00:00:00
abstract::Although prostate-specific antigen (PSA) screening has improved the detection of prostate cancer, allowing for stage migration to less advanced disease, the precise mortality benefit of early detection is unclear. This is in part due to a discrepancy between the two large randomized controlled trials comparing PSA scr...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-015-0296-5
更新日期:2015-03-24 00:00:00
abstract:BACKGROUND:The peer review process is a cornerstone of biomedical research. We aimed to evaluate the impact of interventions to improve the quality of peer review for biomedical publications. METHODS:We performed a systematic review and meta-analysis. We searched CENTRAL, MEDLINE (PubMed), Embase, Cochrane Database of...
journal_title:BMC medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1186/s12916-016-0631-5
更新日期:2016-06-10 00:00:00
abstract:BACKGROUND:Israeli citizens have been exposed to intense and ongoing terrorism since September 2000. We previously studied the mental health impact of terrorism on the Israeli population (Bleich et al., 2002), however the long-term impact of ongoing terrorism has not yet been examined. The present study evaluated the p...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/1741-7015-4-21
更新日期:2006-08-27 00:00:00
abstract::The lack of formal training programs for peer reviewers places the scientific quality of biomedical publications at risk, as the introduction of 'hidden' bias may not be easily recognized by the reader. The exponential increase in the number of manuscripts submitted for publication worldwide, estimated in the millions...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-014-0179-1
更新日期:2014-09-26 00:00:00
abstract::There has been increasing interest in the role of malaria drugs in preventing malaria transmission from humans to mosquitoes, which would help augment malaria control and elimination strategies. Nevertheless, only one stage in the malaria parasite life cycle, the gametocyte, is infectious to mosquitoes. The Worldwide ...
journal_title:BMC medicine
pub_type: 社论
doi:10.1186/s12916-016-0641-3
更新日期:2016-06-18 00:00:00
abstract::The internet has opened up vast possibilities for research. An increasing number of studies are being conducted using the internet as both a source of data and a venue for research. Use of the internet in research has created many challenges, not just for those conducting and reviewing the studies, but also for editor...
journal_title:BMC medicine
pub_type: 社论
doi:10.1186/s12916-014-0124-3
更新日期:2014-07-15 00:00:00
abstract::Clinical pathologies draw us to envisage disease as either an independent entity or a diverse set of traits governed by common physiopathological mechanisms, prompted by environmental assaults throughout life. Autoimmune diseases are not an exception, given they represent a diverse collection of diseases in terms of t...
journal_title:BMC medicine
pub_type: 杂志文章,评审
doi:10.1186/1741-7015-11-197
更新日期:2013-09-04 00:00:00
abstract:BACKGROUND:Mucin 4 (MUC4) plays an important role in protecting and lubricating the epithelial surface of reproductive tracts, but its role in the pathogenesis of endometriosis is largely unknown. METHODS:To correlate MUC4 polymorphism with the risk of endometriosis and endometriosis-related infertility, we performed ...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/1741-7015-9-19
更新日期:2011-02-24 00:00:00
abstract:BACKGROUND:Depression in tuberculosis increases the risk for adverse health outcomes. However, little is known about comorbid depression and tuberculosis in the general population. Thus, we assessed the association between depression and tuberculosis, and the decrements in health status associated with this comorbidity...
journal_title:BMC medicine
pub_type: 杂志文章
doi:10.1186/s12916-017-0975-5
更新日期:2017-11-28 00:00:00
abstract::The microbes colonizing the infant gastrointestinal tract have been implicated in later-life disease states such as allergies and obesity. Recently, the medical research community has begun to realize that very early colonization events may be most impactful on future health, with the presence of key taxa required for...
journal_title:BMC medicine
pub_type: 杂志文章,评审
doi:10.1186/s12916-017-0802-z
更新日期:2017-02-13 00:00:00