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  • 1
    In: The New England Journal of Medicine, 2011, Vol.364(16), pp.1533-1543
    Description: A ciliopathy is a disease in which a hairlike cellular organelle called the cilium is dysfunctional. Most proteins altered in these single-gene disorders function at the level of the cilium–centrosome complex. This review considers the role of the cilium in disease. Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases characterized by dysfunction of a hairlike cellular organelle called the cilium. Most of the proteins that are altered in these single-gene disorders function at the level of the cilium–centrosome complex, which represents nature's universal system for cellular detection and management of external signals. Cilia are microtubule-based structures found on almost all vertebrate cells. They originate from a basal body, a modified centrosome, which is . . .
    Keywords: Medicine;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
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  • 2
    Article
    Article
    Language: English
    In: The Lancet, 2010, Vol.375(9722), pp.1287-1295
    Description: Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects—eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly 15% of adults with the disease. Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust diagnostic examples of personalised medicine because the mutation conveys an almost 100% risk of developing the disease by a defined age. Whereas single-gene diseases are rare disorders, polygenic risk alleles arise in common adult-onset diseases. In this Review, I will discuss prominent renal single-gene kidney disorders, and polygenic risk alleles of common disorders. I delineate how emerging techniques of total exome capture and large-scale sequencing will assist molecular genetic diagnosis, prognosis, and specific treatment, and lead to an improved elucidation of disease mechanisms, thus enabling development of new targeted drugs.
    Keywords: Medicine
    ISSN: 0140-6736
    E-ISSN: 1474-547X
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  • 3
    Language: English
    In: The Lancet, 21 December 2013, Vol.382(9910), pp.2093-2093
    Description: To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(13)60224-X Byline: Stefan Zschiedrich, Tobias B Huber, Friedhelm Hildebrandt, Michael J Mihatsch, Thorsten Wiech Author Affiliation: (a) University Hospital Freiburg, Renal Devision, Department of Medicine, Freiburg, Germany (b) Division of Nephrology, Boston Children's Hospital, Boston, MA, USA (c) Institute for Pathology, Basel, Switzerland (d) Department of Pathology, University Hospital Eppendorf, Hamburg, Germany
    Keywords: Medicine
    ISSN: 0140-6736
    E-ISSN: 1474-547X
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  • 4
    Language: English
    In: Neuron, 20 August 2014, Vol.83(4), pp.805-822
    Description: Mutations of are associated with nephronophthisis and Bardet-Biedl syndrome, as well as schizophrenia; however, the function of SDCCAG8 remains largely unknown. Here, we show that SDCCAG8 regulates centrosomal accumulation of pericentriolar material and neuronal polarization and migration in the developing mouse cortex. expression is selectively elevated in newborn neurons prior to their commencement of radial locomotion, and suppression of this expression by short-hairpin RNAs or a loss-of-function allele impairs centrosomal recruitment of γ-tubulin and pericentrin, interferes with microtubule organization, decouples the centrosome and the nucleus, and disrupts neuronal migration. Moreover, SDCCAG8 interacts and cotraffics with pericentriolar material 1 (PCM1), a centriolar satellite protein crucial for targeting proteins to the centrosome. Expression of SDCCAG8 carrying a human mutation causes neuronal migration defects. These results reveal a critical role for SDCCAG8 in controlling centrosomal properties and function, and provide insights into the basis of neurological defects linked to mutations. Mutations of are linked with nephronophthisis and Bardet-Biedl syndrome, as well as schizophrenia and mental retardation. Insolera et al. demonstrate that SDCCAG8 regulates centrosomal properties and cortical neuronal migration.
    Keywords: Biology ; Anatomy & Physiology
    ISSN: 0896-6273
    E-ISSN: 1097-4199
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  • 5
    Language: English
    In: Kidney International, 01 December 2012, Vol.82(11), pp.1239-1240
    Keywords: Medicine
    ISSN: 0085-2538
    E-ISSN: 1523-1755
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  • 6
    Article
    Article
    Language: English
    In: Seminars in Nephrology, November 2016, Vol.36(6), pp.472-474
    Keywords: Recessive Mutations ; Adck4 ; Coq6 ; Arhgdia ; Kank ; Myo1e
    ISSN: 0270-9295
    E-ISSN: 1558-4488
    Source: ScienceDirect Journals (Elsevier)
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  • 7
    In: Nature Reviews Nephrology, 2015
    Keywords: Humans–Genetics ; Kidney Diseases–Genetics;
    ISSN: 1759-5061
    E-ISSN: 1759507X
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  • 8
    Language: English
    In: Science (New York, N.Y.), 24 February 2012, Vol.335(6071), pp.966-9
    Description: Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the two genes is mediated by a conserved regulatory element in the noncoding intergenic region. Coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements.
    Keywords: Evolution, Molecular ; Gene Expression Regulation ; Genetic Loci ; Regulatory Sequences, Nucleic Acid ; Cerebellar Diseases -- Genetics ; Cilia -- Ultrastructure ; Eye Abnormalities -- Genetics ; Kidney Diseases, Cystic -- Genetics ; Membrane Proteins -- Genetics
    ISSN: 00368075
    E-ISSN: 1095-9203
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  • 9
    In: The New England Journal of Medicine, 2012, Vol.366(16), pp.1508-1514
    Description: Integrin α 3 is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α 3 gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis. Three patients with homozygous mutations in the integrin α3 gene, a transmembrane integrin receptor subunit, were found to have disrupted basement-membrane structures causing congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. Epithelial–mesenchymal interactions are important in the development and tissue homeostasis of many multicompartment organs, such as the kidneys, lungs, and skin.1 Adhesion of epithelial cells to basement membranes provides the structural and functional integrity of the organs. Cues from the extracellular environment that are transduced to the cell and vice versa regulate adhesion, which is partially dependent on integrins.2 Mutations in integrin genes are associated with various human disorders, including epidermolysis bullosa with pyloric atresia, congenital muscular dystrophy, leukocyte adhesion deficiency, and Glanzmann's thrombasthenia.3,4 Integrin α3, which forms heterodimers with integrin β1, is widely expressed . . .
    Keywords: Medicine;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
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  • 10
    Language: English
    In: The New England Journal of Medicine, April 19, 2012, Vol.366(16), p.1508(7)
    Description: The article discusses the association of integrin-[alpha]3 transmembrane integrin receptor (ITAG3) mutations with kidney, lung, and skin disease. The cases of 3 patients are highlighted to arrive at a better understanding of ITAG3 mutations and how indispensible it is.
    Keywords: Cell Interactions -- Research ; Comorbidity -- Causes Of ; Comorbidity -- Genetic Aspects ; Comorbidity -- Case Studies ; Gene Mutation -- Research ; Integrins -- Research ; Integrins -- Health Aspects ; Interstitial Lung Diseases -- Causes Of ; Interstitial Lung Diseases -- Genetic Aspects ; Nephrotic Syndrome -- Causes Of ; Nephrotic Syndrome -- Genetic Aspects ; Skin Aging -- Genetic Aspects
    ISSN: 0028-4793
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