Advances in the molecular genetics of non-syndromic polydactyly.

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：: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：: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：: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：: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

authors： Geisbert TW,Hensley LE

更新日期：2004-09-21 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 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：: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：: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 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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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 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：: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：: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：: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：: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：: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：: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：: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：: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