Gene therapy for severe combined immune deficiency.

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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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 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：: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：: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 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：: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：: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