Browsing by Subject "genetics"
Now showing items 1-20 of 87
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A ligand-independent integrin β1 mechanosensory complex guides spindle orientation
(2016)Control of spindle orientation is a fundamental process for embryonic development, morphogenesis and tissue homeostasis, while defects are associated with tumorigenesis and other diseases. Force sensing is one of the ...
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Addressing the Functional Determinants of FAK during Ciliogenesis in Multiciliated Cells
(2017)We previously identified focal adhesion kinase (FAK) as an important regulator of ciliogenesis in multiciliated cells. FAK and other focal adhesion (FA) proteins associate with the basal bodies and their striated rootlets ...
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Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies
(2014)The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the ...
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Architectural insight into inovirus-associated vectors (IAVs) and development of IAV-based vaccines inducing humoral and cellular responses: Implications in HIV-1 vaccines
(2014)Inovirus-associated vectors (IAVs) are engineered, non-lytic, filamentous bacteriophages that are assembled primarily from thousands of copies of the major coat protein gp8 and just five copies of each of the four minor ...
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Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report
(2015)Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...
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The bacterial metabolite 2-aminoacetophenone promotes association of pathogenic bacteria with flies
(2014)Bacteria contaminate insects and secrete metabolites that may affect insect behaviour and potentially fitness through unknown mechanisms. Here we show that the 'grape-like' odorant 2-aminoacetophenone (2AA), secreted by ...
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Balanced translocations for the analysis of imprinted regions of the mouse genome.
(2001)Experimental studies that investigate the functional and mechanistic properties of an imprinted locus require material in which the two parental chromosome homologs can be easily distinguished. The use of animals with ...
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BioTextQuest+: A knowledge integration platform for literature mining and concept discovery
(2014)The iterative process of finding relevant information in biomedical literature and performing bioinformatics analyses might result in an endless loop for an inexperienced user, considering the exponential growth of scientific ...
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Black cohosh (Cimicifuga racemosa L.) protects against menadione-induced DNA damage through scavenging of reactive oxygen species: Bioassay-directed isolation and characterization of active principles
(2002)The roots/rhizomes of Cimicifuga racemosa L. (Nutt.) (black cohosh) have traditionally been used to treat menopausal symptoms through an unknown mechanism of action. In an effort to determine if black cohosh had additional ...
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Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life
(2015)Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the ...
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Cellular HIV-1 DNA levels in drug sensitive strains are equivalent to those in drug resistant strains in newly-diagnosed patients in Europe
(2010)Background HIV-1 genotypic drug resistance is an important threat to the success of antiretroviral therapy and transmitted resistance has reached 9% prevalence in Europe. Studies have demonstrated that HIV-1 DNA load in ...
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Challenge of Drosophila melanogaster with Cryptococcus neoformans and role of the innate immune response
(2004)We found that the ingestion of Cryptococcus neoformans by Drosophila melanogaster resulted in the death of the fly but that the ingestion of Saccharomyces cerevisiae or the nonpathogenic Cryptococcus kuetzingii or Cryptococcus ...
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Clinical aspects of cystinuria
(1997)
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Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure
(2015)BACKGROUND/AIMS: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement ...
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COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis
(2015)
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Comparative developmental anatomy of the murine and human definitive placentae
(2002)The placenta of eutherian mammals is a remarkable biological structure. It is composed of both zygote-derived and maternal cells, and mediates the complex interactions between the mother and the fetus that are necessary ...
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A computationally fast measure of epistasis for 2 SNPs and a categorical phenotype.
(2010)Complex diseases may be caused by interactions or combined effects between multiple genetic and environmental factors. One of the main limitations of testing for interaction between genetic loci in large whole genome studies ...
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The cypriot and Iranian National Mutation Frequency Databases.
(2006)The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
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Cystic diseases of the kidney molecular biology and genetics
(2010)Context.-Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing Xlinked, autosomal dominant, and autosomal recessive inheritance. ...