Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.

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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：:Infants born with severe combined immune deficiencies are prone to life-threatening infections and, without treatment, do not survive beyond the first year of life. Haematopoietic stem cell transplantation from a fully matched donor offers the possibility of cure. In the absence of a suitable matched donor, haploident...

journal_title：Expert reviews in molecular medicine

authors： Qasim W,Gaspar HB,Thrasher AJ

更新日期：2004-07-02 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

authors： Ruetze M,Richter W

更新日期：2014-05-09 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：: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：: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：: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：: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 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：: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：: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：:Human tumours emerge as the result of multiple genetic and epigenetic aberrations that allow the proto-cancer cell to escape normal social control. Many signal transduction pathways become constitutively active during this process, and one whose importance is increasingly being appreciated involves phosphoinositide 3-...

journal_title：Expert reviews in molecular medicine

authors： Stokoe D

更新日期：2005-06-06 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：: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：: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：: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：: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