Abstract:
:Several genetic loci appear to be involved in susceptibility to autoimmune disease. Some loci are disease specific, whereas others appear to exert a general effect on the autoimmune disease process. Despite a large number of studies of many different diseases, consistent associations with multiple autoimmune disorders have been restricted to three gene regions: the human leukocyte antigen (HLA) class II region on chromosome 6p21, the gene encoding cytotoxic T lymphocyte-associated 4 (CTLA-4) on chromosome 2q33, and the PTPN22 gene encoding lymphoid tyrosine phosphatase (LYP) on chromosome 1p13. Each of these loci is likely to encode molecules that are crucial in the immune cascade and are actively involved in T-cell activation. Moreover, gene polymorphisms that affect function might contribute to the triggering of autoimmune disease by as-yet-unknown mechanisms. This review summarises recent developments and current understanding of the way in which molecules encoded by these susceptibility loci contribute to T-cell activation, and hypothesises how aberrant function of these molecules might trigger autoimmunity.
journal_name
Expert Rev Mol Medjournal_title
Expert reviews in molecular medicineauthors
Brand O,Gough S,Heward Jdoi
10.1017/S1462399405009981keywords:
subject
Has Abstractpub_date
2005-10-17 00:00:00pages
1-15issue
23issn
1462-3994pii
S1462399405009981journal_volume
7pub_type
杂志文章,评审abstract::Endothelial hyperpermeability is a significant problem in vascular inflammation associated with trauma, ischaemia-reperfusion injury, sepsis, adult respiratory distress syndrome, diabetes, thrombosis and cancer. An important mechanism underlying this process is increased paracellular leakage of plasma fluid and protei...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399409001112
更新日期:2009-06-30 00:00:00
abstract::Familial Alzheimer's disease (FAD) accounts for 5-10% of deaths from Alzheimer's disease (AD), and approximately 50% of these cases have been definitely linked to missense mutations in three genes, encoding the amyloid precursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2). Of these, the vast majority of F...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399402005008
更新日期:2002-08-22 00:00:00
abstract::Imaging has become a crucial tool in oncology throughout the course of disease detection and management, and is an integral part of clinical trials. Anatomical and functional imaging led the way, providing valuable information used in the diagnosis of disease, including data regarding the size and location of the tumo...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399410001511
更新日期:2010-07-15 00:00:00
abstract::Resveratrol (RSV) is a natural polyphenol produced by plants and is proposed to have multiple beneficial effects on health. In recent years, the interest in this molecule has increased nearly exponentially following the major findings that RSV (I) is chemo-preventive in some cancer models, (II) is cardio-protective an...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2013.11
更新日期:2013-09-23 00:00:00
abstract::Invariant natural killer T (iNKT) cells are innate lymphocytes whose functions are regulated by self and foreign glycolipid antigens presented by the antigen-presenting molecule CD1d. Activation of iNKT cells in vivo results in rapid release of copious amounts of effector cytokines and chemokines with which they regul...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399408000732
更新日期:2008-07-07 00:00:00
abstract::The incretin hormones glucagon-like peptide 1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) are released from enteroendocrine cells in the intestinal epithelium in response to nutrient ingestion. The actions of GLP-1 and GIP - not only on local gut physiology but also on glucose homeostasis, appetite ...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S146239940900132X
更新日期:2010-01-05 00:00:00
abstract::Humans and other vertebrates exhibit left-right (LR) asymmetric arrangement of the internal organs, and failure to establish normal LR asymmetry leads to internal laterality disorders, including situs inversus and heterotaxy. Situs inversus is complete mirror-imaged arrangement of the internal organs along LR axis, wh...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2014.22
更新日期:2015-01-27 00:00:00
abstract::Memory is the process by which organisms are able to record their experiences, and use this information to adapt their responses to the environment. As such, it is vital for survival. In recent years, the development of spatially and temporally selective techniques for the regulation of gene expression has allowed the...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399403006707
更新日期:2003-10-07 00:00:00
abstract::Atherosclerosis is a pathological process that takes place in the major arteries and is the underlying cause of heart attacks, stroke and peripheral artery disease. The earliest detectable lesions, called fatty streaks, contain macrophage foam cells that are derived from recruited monocytes. More-advanced atherosclero...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章
doi:10.1017/S1462399401003696
更新日期:2001-11-05 00:00:00
abstract::Common to all forms of chronic kidney disease is the progressive scarring of the tubulo-interstitial space, associated with the acquisition and accumulation of activated myofibroblasts. Many of these myofibroblasts are generated when tubular epithelial cells progressively lose their epithelial characteristics (cell-ce...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399410001481
更新日期:2010-05-27 00:00:00
abstract::Human papillomaviruses (HPVs) are ubiquitous DNA viruses that infect cutaneous and mucosal epithelia. A subset of HPVs infects the female genital tract, to induce cervical lesions that can progress to malignancy in some women. DNA from HPVs can be found in >94% of cervical carcinomas (CaCx) worldwide; this strong asso...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章
doi:10.1017/S1462399498000210
更新日期:1998-07-03 00:00:00
abstract::It was suggested half a century ago that electrical impulses from the lateral hypothalamic area stimulate breathing. It is now emerging that these effects may be mediated, at least in part, by neurons containing orexin neuropeptides (also known as hypocretins). These cells promote wakefulness and consciousness, and th...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399408000823
更新日期:2008-10-02 00:00:00
abstract::The identification of multipotent adipose-derived stromal cells (ASC) has raised hope that tissue regeneration approaches established with bone-marrow-derived stromal cells (BMSC) can be reproduced with a cell-type that is far more accessible in large quantities. Recent detailed comparisons, however, revealed subtle f...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2014.9
更新日期:2014-05-09 00:00:00
abstract::The use of mouse models in medical research has greatly contributed to our understanding of the development of type 2 diabetes mellitus and the mechanisms of disease progression in the context of insulin resistance and β-cell dysfunction. Maintenance of glucose homeostasis involves a complex interplay of many genes an...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399410001729
更新日期:2011-01-06 00:00:00
abstract::Prader-Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of expression of paternally inherited genes known to be imprinted and located in the chromosome 15q11-q13 region. PWS is considered the most common syndromal cause of life-threatening obesity and is estimated at 1 in 10,000 to 20,000 in...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399405009531
更新日期:2005-07-25 00:00:00
abstract::Resistance to anti-cancer drugs (drug resistance) can be defined in the laboratory by the amount of anti-cancer drug that is required to produce a given level of cell death (drug response). Clinical drug resistance can be defined either as a lack of reduction of the size of a tumour following chemotherapy or as the oc...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章
doi:10.1017/S1462399499001099X
更新日期:1999-10-25 00:00:00
abstract::Many viruses, with distinct replication strategies, activate DNA-damage response pathways, including the lentivirus human immunodeficiency virus (HIV) and the DNA viruses Epstein-Barr virus (EBV), herpes simplex virus 1, adenovirus and SV40. DNA-damage response pathways involving DNA-dependent protein kinase, ataxia-t...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399406010544
更新日期:2006-03-03 00:00:00
abstract::The major histocompatibility complex (MHC) harbours genes whose primary function in regulating immune responsiveness to infection is to present foreign antigens to cytotoxic T lymphocytes (CTLs) and T helper cells. In the case of infection by human immunodeficiency virus (HIV), defining the optimal HIV epitopes that a...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399403005957
更新日期:2003-02-24 00:00:00
abstract::Glioblastoma multiforme, because of its invasive nature, can be considered a disease of the entire brain. Despite recent advances in surgery, radiotherapy and chemotherapy, current treatment regimens have only a marginal impact on patient survival. A crucial challenge is to deliver drugs effectively to invasive glioma...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399411001888
更新日期:2011-05-13 00:00:00
abstract::Muscular dystrophies are a group of diseases characterised by the primary wasting of skeletal muscle, which compromises patient mobility and in the most severe cases originate a complete paralysis and premature death. Existing evidence implicates calcium dysregulation as an underlying crucial event in the pathophysiol...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2014.17
更新日期:2014-10-08 00:00:00
abstract::Experimental and human studies have shown that proteinuria contributes to the progression of renal disease. Overexposure to filtered proteins promotes the expression and release of chemokines by tubular epithelial cells, thus leading to inflammatory cell recruitment and renal impairment. This review focuses on recent ...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2014.3
更新日期:2014-02-17 00:00:00
abstract::Angptl2 is a multifaceted protein, displaying both physiological and pathological functions, in which scientific and clinical interest is growing exponentially within the past few years. Its physiological functions are not well understood, but angptl2 was first acknowledged for its pro-angiogenic and antiapoptotic cap...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2014.19
更新日期:2014-11-24 00:00:00
abstract::Gap junctions allow the exchange of ions and small molecules between adjacent cells through intercellular channels formed by connexin proteins, which can also form functional hemichannels in nonjunctional membranes. Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399409001276
更新日期:2009-11-19 00:00:00
abstract::The protozoan parasite Entamoeba histolytica is the causative agent of amoebic dysentery. It is prevalent in developing countries that cannot prevent its fecal-oral spread and ranks second in worldwide causes of morbidity by parasitic infection. Improvements in sanitation would help curb disease spread. However, a lac...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399405009622
更新日期:2005-07-18 00:00:00
abstract::Polydactyly is one of the most common inherited limb abnormalities, characterised by supernumerary fingers or toes. It results from disturbances in the normal programme of the anterior-posterior axis of the developing limb, with diverse aetiology and variable inter- and intra-familial clinical features. Polydactyly ca...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2015.18
更新日期:2015-10-30 00:00:00
abstract::Advances in molecular biology and immunology have renewed interest in the development of vaccines for the treatment or prevention of cancer. Research over the past 10 years has focused on the identification of suitable tumour antigens to use as targets for a variety of vaccine strategies. Carcinoembryonic antigen (CEA...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章
doi:10.1017/S146239940000168X
更新日期:2000-04-19 00:00:00
abstract::Antiphospholipid (aPL) antibodies (Abs) are associated with thrombosis and pregnancy loss in antiphospholipid syndrome (APS), a disorder initially characterised in patients with systemic lupus erythematosus (SLE) but now known to occur in the absence of other autoimmune disease. There is strong evidence that aPL Abs a...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399407000506
更新日期:2007-11-13 00:00:00
abstract::Engineered tissue derived from ocular surface stem cells (SCs) are a cutting edge biotechnology for repair and restoration of severely damaged eyes as a result of ocular surface dysfunction because of SC failure. Ex-vivo SC expansion techniques have advanced significantly since the first patients were treated in the l...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2013.5
更新日期:2013-06-25 00:00:00
abstract::Acute kidney injury (AKI) is a serious clinical condition with no effective treatment. Tubular cells are key targets in AKI. Tubular cells and, specifically, proximal tubular cells are extremely rich in mitochondria and mitochondrial changes had long been known to be a feature of AKI. However, only recent advances in ...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/erm.2014.14
更新日期:2014-08-08 00:00:00
abstract::Ebola virus (EBOV) gained public notoriety in the last decade largely as a consequence of the highly publicized isolation of a new EBOV species in a suburb of Washington, DC, in 1989, together with the dramatic clinical presentation of EBOV infection and high case-fatality rate in Africa (near 90% in some outbreaks), ...
journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
doi:10.1017/S1462399404008300
更新日期:2004-09-21 00:00:00