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：: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：: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：: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：: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：:The HEDGEHOG-GLI (HH-GLI) signalling is a key pathway critical in embryonic development, stem cell biology and tissue homeostasis. In recent years, aberrant activation of HH-GLI signalling has been linked to several types of cancer, including those of the skin, brain, lungs, prostate, gastrointestinal tract and blood....

journal_title：Expert reviews in molecular medicine

authors： Pandolfi S,Stecca B

更新日期：2015-02-09 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：: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：: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：: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 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

authors： Ruetze M,Richter W

更新日期：2014-05-09 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：: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：: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：: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：: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：: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：: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：:The pituitary tumor-transforming gene (PTTG1) encodes a multifunctional protein (PTTG) that is overexpressed in numerous tumours, including pituitary, thyroid, breast and ovarian carcinomas. PTTG induces cellular transformation in vitro and tumourigenesis in vivo, and several mechanisms by which PTTG contributes to tu...

journal_title：Expert reviews in molecular medicine

authors： Smith VE,Franklyn JA,McCabe CJ

更新日期：2010-12-03 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：: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：: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：: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

authors： Burns WC,Thomas MC

更新日期：2010-05-27 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：: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：: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

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

authors： Lee JR,White TW

更新日期：2009-11-19 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：: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：: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：: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：: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：: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

authors： Pierangeli SS,Vega-Ostertag ME,González EB

更新日期：2007-11-13 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：:Epithelial ovarian cancer comprises several subtypes of tumours that exhibit diverse histopathological features. The intriguing assumption by many epithelial ovarian cancers of specialised features of nonovarian tissue lineages has promoted considerable debate as to whether these tumours arise from the deceptively sim...

journal_title：Expert reviews in molecular medicine

authors： Naora H

更新日期：2007-05-04 00:00:00

abstract：:Innate immune receptors play a key role in the early recognition of invading bacterial pathogens and initiate the crucial innate immune response. The diverse macrophage receptors recognise Gram-positive and Gram-negative bacteria via conserved structures on the bacterial surface and facilitate phagocytosis and/or sign...

journal_title：Expert reviews in molecular medicine

authors： Plüddemann A,Mukhopadhyay S,Gordon S

更新日期：2006-11-22 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：: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：: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