Connexin-26 mutations in deafness and skin disease.

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：: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

authors： Florence WC,Bhat RK,Joyce S

更新日期：2008-07-07 00:00:00

abstract：:The mammalian target of rapamycin mTOR is a central element in an evolutionary conserved signalling pathway that regulates cell growth, survival and proliferation, orchestrating signals originating from growth factors, nutrients or particular stress stimuli. Two important modulators of mTOR activity are the AKT and ER...

journal_title：Expert reviews in molecular medicine

authors： Drakos E,Rassidakis GZ,Medeiros LJ

更新日期：2008-02-04 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：: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

authors： Vallejo-Illarramendi A,Toral-Ojeda I,Aldanondo G,López de Munain A

更新日期：2014-10-08 00:00:00

abstract：:Ectopic pregnancy is defined as a pregnancy implanted outside the uterus, and >98% implant in the Fallopian tube. It has a major clinical and socioeconomic impact worldwide. The diagnosis of ectopic pregnancy is often difficult and resource intensive owing to a lack of accurate biomarkers, and there is a need for impr...

journal_title：Expert reviews in molecular medicine

authors： Horne AW,Critchley HO

更新日期：2012-03-02 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：: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：:Genomic imprinting is an epigenetic marking of genes in the parental germline that ensures the stable transmission of monoallelic gene expression patterns in a parent-of-origin-specific manner. Epigenetic marking systems are thus able to regulate gene activity independently of the underlying DNA sequence. Several impr...

journal_title：Expert reviews in molecular medicine

authors： Uribe-Lewis S,Woodfine K,Stojic L,Murrell A

更新日期：2011-01-25 00:00:00

abstract：:Antisense oligonucleotides as a therapeutic platform have been slow to progress since the approval of the first antisense drug in 1998. Recently, there have been several examples of convincing antisense interventions in animal models and promising clinical trial data. This review considers the factors determining the ...

journal_title：Expert reviews in molecular medicine

authors： White PJ,Anastasopoulos F,Pouton CW,Boyd BJ

更新日期：2009-03-23 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：: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：: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

authors： Thorin-Trescases N,Thorin E

更新日期：2014-11-24 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：: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：: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：: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：:Muscle fibres are very specialised cells with a complex structure that requires a high level of organisation of the constituent proteins. For muscle contraction to function properly, there is a need for not only sarcomeres, the contractile structures of the muscle fibre, but also costameres. These are supramolecular s...

journal_title：Expert reviews in molecular medicine

authors： Jaka O,Casas-Fraile L,López de Munain A,Sáenz A

更新日期：2015-06-19 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：: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

authors： Tábara LC,Poveda J,Martin-Cleary C,Selgas R,Ortiz A,Sanchez-Niño MD

更新日期：2014-08-08 00:00:00

abstract：:The human animal type melanoma (ATM) is a rare subtype of melanoma characterised by the proliferation of pigmented dermal epithelioid and spindled melanocytes. However, this variant of melanoma is still lacking a precise nosography definition and classification for the difficulty to be distinguished from other more co...

journal_title：Expert reviews in molecular medicine

authors： Stucci LS,Palmirotta R,Lovero D,Silvestris E,Cafforio P,Felici C,Todisco A,Nacchiero E,Pezzuto F,Tucci M,Silvestris F

更新日期：2018-09-12 00:00:00

abstract：:Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females. XCI skewing has been also linked to abnormal X-linked gene expression ...

journal_title：Expert reviews in molecular medicine

authors： Godler DE,Inaba Y,Schwartz CE,Bui QM,Shi EZ,Li X,Herlihy AS,Skinner C,Hagerman RJ,Francis D,Amor DJ,Metcalfe SA,Hopper JL,Slater HR

更新日期：2015-07-01 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：: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

authors： Widlund AL,Baur JA,Vang O

更新日期：2013-09-23 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

authors： Moreno JA,Moreno S,Rubio-Navarro A,Gómez-Guerrero C,Ortiz A,Egido J

更新日期：2014-02-17 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：: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

authors： Kumar P,Shen Q,Pivetti CD,Lee ES,Wu MH,Yuan SY

更新日期：2009-06-30 00:00:00

abstract：:Multiple sclerosis (MS) is an autoimmune disease with an important genetic component. The strongest genetic association is with the major histocompatibility complex (MHC) region. Several MHC alleles predispose to the disease, the most prominent of which are certain alleles in the HLA-DR2 haplotype. Functional and stru...

journal_title：Expert reviews in molecular medicine

authors： Holmes S,Friese MA,Siebold C,Jones EY,Bell J,Fugger L

更新日期：2005-02-14 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：: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