Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

abstract：:Since the discovery of noncoding small RNAs such as microRNAs (miRNAs), and their roles as potential tumour suppressors or oncogenes, post-transcriptional and translational control of gene expression have become increasingly important in cancer research. Given that over a third of coding genes, as estimated by computa...

journal_title：Expert reviews in molecular medicine

authors： Song B,Ju J

更新日期：2010-10-14 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

authors： Angunawela RI,Mehta JS,Daniels JT

更新日期：2013-06-25 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

authors： Chen Q,Schubert D

更新日期：2002-08-22 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

authors： Williams RH,Burdakov D

更新日期：2008-10-02 00:00:00

abstract：:Asthma, allergic rhinitis and atopic dermatitis are allergic immune disorders characterised by a predominance of T helper 2 (Th2) cells, the resulting elevation of allergen-specific IgE, and mast-cell- and basophil-associated inflammation. The cytokine environment at the site of the initial antigen stimulation determi...

journal_title：Expert reviews in molecular medicine

authors： Inoue H,Kubo M

更新日期：2004-10-22 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

authors： Mehra NK,Kaur G

更新日期：2003-02-24 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

authors： Deng H,Xia H,Deng S

更新日期：2015-01-27 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

authors： Links M,Brown R

更新日期：1999-10-25 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

authors： Dunning J,During MJ

更新日期：2003-10-07 00:00:00

abstract：:Autoimmune diseases of the central nervous system (CNS) involve the migration of abnormal numbers of self-directed leukocytes across the blood-brain barrier that normally separates the CNS from the immune system. The cardinal lesion associated with neuroinflammatory diseases is the perivascular infiltrate, which compr...

journal_title：Expert reviews in molecular medicine

authors： McCandless EE,Klein RS

更新日期：2007-07-19 00:00:00

abstract：:Carcinoma of the stomach is one of the most prevalent cancer types in the world today. Only a limited number of biomarkers are available for detection and prognostic evaluation of gastric cancer. New advances in identifying molecular biomarkers are essential. Two major forms of gastric cancer are distinguished accordi...

journal_title：Expert reviews in molecular medicine

authors： Wu CW,Chi CW,Lin WC

更新日期：2002-03-21 00:00:00

abstract：:Appropriately functioning adipose tissue is essential for human health, a fact most clearly illustrated by individuals with lipodystrophy, who have impaired adipose development and often suffer severe metabolic disease as a result. Humans with obesity display a similar array of metabolic problems. This reflects failur...

journal_title：Expert reviews in molecular medicine

authors： Rochford JJ

更新日期：2010-08-02 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

authors： Deng H,Tan T,Yuan L

更新日期：2015-10-30 00:00:00

abstract：:Transthyretin (TTR) is a transport protein for thyroid hormones and vitamin A and might have an important role in the nervous system. However, TTR can undergo a conformational change and form amyloid fibrils, in both acquired and hereditary forms of systemic amyloidosis. More than 80 TTR mutations have been associated...

journal_title：Expert reviews in molecular medicine

authors： Saraiva MJ

更新日期：2002-05-14 00:00:00

abstract：:The human brain is a highly complex organ with remarkable energy demands. Although it represents only 2% of the total body weight, it accounts for 20% of all oxygen consumption, reflecting its high rate of metabolic activity. Mitochondria have a crucial role in the supply of energy to the brain. Consequently, their de...

journal_title：Expert reviews in molecular medicine

authors： de Castro IP,Martins LM,Tufi R

更新日期：2010-04-19 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

authors： Bittel DC,Butler MG

更新日期：2005-07-25 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

authors： Laughlin RC,Temesvari LA

更新日期：2005-07-18 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

authors： Seaman ME,Contino G,Bardeesy N,Kelly KA

更新日期：2010-07-15 00:00:00

abstract：:Angiogenesis, the formation of new blood vessels from the pre-existing vasculature, is an integral part of physiological processes such as embryonic development, the female reproductive cycle and wound healing. Angiogenesis is also central to a variety of pathologies including cancer, where it is recognised as being c...

journal_title：Expert reviews in molecular medicine

authors： Lafleur MA,Handsley MM,Edwards DR

更新日期：2003-09-22 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

authors： Lucas AD,Greaves DR

更新日期：2001-11-05 00:00:00

abstract：:Infantile haemangioma is the most common tumour of infancy, yet the origin of these lesions remains controversial and the predictable life cycle is poorly understood. Much new information on infantile haemangiomas has emerged over the past decade, but experts continue to debate fundamental features, including cell of ...

journal_title：Expert reviews in molecular medicine

authors： Ritter MR,Butschek RA,Friedlander M,Friedlander SF

更新日期：2007-11-29 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

authors： Parker HE,Reimann F,Gribble FM

更新日期：2010-01-05 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

authors： Man S

更新日期：1998-07-03 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

authors： Lee AW,Cox RD

更新日期：2011-01-06 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

authors： Sinclair A,Yarranton S,Schelcher C

更新日期：2006-03-03 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

authors： Agarwal S,Sane R,Oberoi R,Ohlfest JR,Elmquist WF

更新日期：2011-05-13 00:00:00

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...

journal_title：Expert reviews in molecular medicine

authors： Brand O,Gough S,Heward J

更新日期：2005-10-17 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

authors： Hörig H,Medina FA,Conkright WA,Kaufman HL

更新日期：2000-04-19 00:00:00

abstract：:Limb-girdle muscular dystrophy type 2A (LGMD2A) is a form of muscular dystrophy caused by mutations in calpain 3 (CAPN3). Several studies have implicated Ca2+ dysregulation as an underlying event in several muscular dystrophies, including LGMD2A. In this study we used mouse and human myotube cultures, and muscle biops...

journal_title：Expert reviews in molecular medicine

authors： Toral-Ojeda I,Aldanondo G,Lasa-Elgarresta J,Lasa-Fernández H,Fernández-Torrón R,López de Munain A,Vallejo-Illarramendi A

更新日期：2016-04-08 00:00:00

abstract：:Spinal cord injury is one of the most devastating conditions that affects the central nervous system. It can lead to permanent disability and there are around two million people affected worldwide. After injury, accumulation of myelin debris and formation of an inhibitory glial scar at the site of injury leads to a ph...

journal_title：Expert reviews in molecular medicine

authors： Afshari FT,Kappagantula S,Fawcett JW

更新日期：2009-12-08 00:00:00