Genetic basis of human left-right asymmetry disorders.

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, whereas heterotaxy is abnormal arrangement of the internal thoraco-abdominal organs across LR axis of the body, most of which are associated with complex cardiovascular malformations. Both disorders are genetically heterogeneous with reduced penetrance, presumably because of monogenic, polygenic or multifactorial causes. Research in genetics of LR asymmetry disorders has been extremely prolific over the past 17 years, and a series of loci and disease genes involved in situs inversus and heterotaxy have been described. The review highlights the classification, chromosomal abnormalities, pathogenic genes and the possible mechanism of human LR asymmetry disorders.

journal_name

Expert Rev Mol Med

authors

Deng H,Xia H,Deng S

doi

10.1017/erm.2014.22

subject

Has Abstract

pub_date

2015-01-27 00:00:00

pages

e19

issn

1462-3994

pii

S1462399414000222

journal_volume

16

pub_type

杂志文章,评审
  • Costamere proteins and their involvement in myopathic processes.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2015.9

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

    更新日期:2015-06-19 00:00:00

  • Mitochondria-targeted therapies for acute kidney injury.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2014.14

    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

  • Ebola virus: new insights into disease aetiopathology and possible therapeutic interventions.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399404008300

    authors: Geisbert TW,Hensley LE

    更新日期:2004-09-21 00:00:00

  • Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2015.11

    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

  • Gene therapy for severe combined immune deficiency.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399404007884

    authors: Qasim W,Gaspar HB,Thrasher AJ

    更新日期:2004-07-02 00:00:00

  • Role of chemokines in proteinuric kidney disorders.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2014.3

    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

  • Molecular imaging agents: impact on diagnosis and therapeutics in oncology.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399410001511

    authors: Seaman ME,Contino G,Bardeesy N,Kelly KA

    更新日期:2010-07-15 00:00:00

  • Strategies for cancer therapy using carcinoembryonic antigen vaccines.

    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

    pub_type: 杂志文章

    doi:10.1017/S146239940000168X

    authors: Hörig H,Medina FA,Conkright WA,Kaufman HL

    更新日期:2000-04-19 00:00:00

  • Molecular mechanisms controlling human adipose tissue development: insights from monogenic lipodystrophies.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399410001547

    authors: Rochford JJ

    更新日期:2010-08-02 00:00:00

  • The molecular mediators of type 2 epithelial to mesenchymal transition (EMT) and their role in renal pathophysiology.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399410001481

    authors: Burns WC,Thomas MC

    更新日期:2010-05-27 00:00:00

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

    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

    pub_type: 杂志文章

    doi:10.1017/erm.2016.9

    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

  • Atherosclerosis: role of chemokines and macrophages.

    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

    pub_type: 杂志文章

    doi:10.1017/S1462399401003696

    authors: Lucas AD,Greaves DR

    更新日期:2001-11-05 00:00:00

  • Molecular mechanisms of endothelial hyperpermeability: implications in inflammation.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399409001112

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

    更新日期:2009-06-30 00:00:00

  • Overcoming biological barriers to in vivo efficacy of antisense oligonucleotides.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399409001021

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

    更新日期:2009-03-23 00:00:00

  • New targeted therapies for treatment of thrombosis in antiphospholipid syndrome.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399407000506

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

    更新日期:2007-11-13 00:00:00

  • HLA , CTLA-4 and PTPN22 : the shared genetic master-key to autoimmunity?

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399405009981

    authors: Brand O,Gough S,Heward J

    更新日期:2005-10-17 00:00:00

  • Dysregulation of calcium homeostasis in muscular dystrophies.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2014.17

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

    更新日期:2014-10-08 00:00:00

  • Molecular mechanisms of genomic imprinting and clinical implications for cancer.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399410001717

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

    更新日期:2011-01-25 00:00:00

  • Pathogenesis of infantile haemangioma: new molecular and cellular insights.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S146239940700052X

    authors: Ritter MR,Butschek RA,Friedlander M,Friedlander SF

    更新日期:2007-11-29 00:00:00

  • Impact of miRNAs in gastrointestinal cancer diagnosis and prognosis.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399410001663

    authors: Song B,Ju J

    更新日期:2010-10-14 00:00:00

  • Metalloproteinases and their inhibitors in angiogenesis.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399403006628

    authors: Lafleur MA,Handsley MM,Edwards DR

    更新日期:2003-09-22 00:00:00

  • Hypothalamic orexins/hypocretins as regulators of breathing.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399408000823

    authors: Williams RH,Burdakov D

    更新日期:2008-10-02 00:00:00

  • The interaction of macrophage receptors with bacterial ligands.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399406000159

    authors: Plüddemann A,Mukhopadhyay S,Gordon S

    更新日期:2006-11-22 00:00:00

  • Cellular and molecular mechanisms that underlie Entamoeba histolytica pathogenesis: prospects for intervention.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399405009622

    authors: Laughlin RC,Temesvari LA

    更新日期:2005-07-18 00:00:00

  • DNA-damage response pathways triggered by viral replication.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399406010544

    authors: Sinclair A,Yarranton S,Schelcher C

    更新日期:2006-03-03 00:00:00

  • Connexin-26 mutations in deafness and skin disease.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399409001276

    authors: Lee JR,White TW

    更新日期:2009-11-19 00:00:00

  • Advances in the molecular genetics of non-syndromic polydactyly.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2015.18

    authors: Deng H,Tan T,Yuan L

    更新日期:2015-10-30 00:00:00

  • Mechanisms of disease: the endocrinology of ectopic pregnancy.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/erm.2011.2

    authors: Horne AW,Critchley HO

    更新日期:2012-03-02 00:00:00

  • MHC-based vaccination approaches: progress and perspectives.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399403005957

    authors: Mehra NK,Kaur G

    更新日期:2003-02-24 00:00:00

  • Pituitary tumor-transforming gene and its binding factor in endocrine cancer.

    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

    pub_type: 杂志文章,评审

    doi:10.1017/S1462399410001699

    authors: Smith VE,Franklyn JA,McCabe CJ

    更新日期:2010-12-03 00:00:00