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Keyword: genetics
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Biochem Soc Trans (2019) 47 (2): 559-569.
Published: 08 March 2019
... changes in DNA sequencing technology have allowed us to survey the complexities that constitute the cancer genome, while advances in genetic engineering are allowing us to functionally interrogate these alterations. These approaches are providing new insights into how mutations influence cancer biology...
Biochem Soc Trans (2016) 44 (2): 659-661.
Published: 11 April 2016
...John Hardy For each of the neurodegenerative syndromes, we now know many pathogenic and/or causative genetic risk loci. Here, I suggest that this wealth of knowledge now allows us to start to understand what are the specific vulnerabilities of different neuronal types and to suggest that each...
Biochem Soc Trans (2015) 43 (5): 913-919.
Published: 09 October 2015
...Donatella Peca; Renato Cutrera; Andrea Masotti; Renata Boldrini; Olivier Danhaive Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in...
Biochem Soc Trans (2015) 43 (4): 586-592.
Published: 03 August 2015
... with particular attention to TSPO genetics, cellular heterogeneity of TSPO in brain tissue and TSPO distribution in blood and plasma that need to be considered in the quantification of PET data to avoid spurious results as well as ineffective development and use of these radiotracers. 1 To whom...
Biochem Soc Trans (2009) 37 (4): 838-842.
Published: 22 July 2009
... both gene-driven (reverse genetics) and phenotype-driven (forward genetics) approaches. A high-efficiency ENU approach results in approx. 25 functional mutations per genome; most of these will result in hypomorphic alleles. Our group has recently begun using ENU mutagenesis as a tool for understanding...
Biochem Soc Trans (2009) 37 (1): 97-101.
Published: 20 January 2009
...Michaela Wagner; Silvia Berkner; Malgorzata Ajon; Arnold J.M. Driessen; Georg Lipps; Sonja-Verena Albers Although Sulfolobus species are among the best studied archaeal micro-organisms, the development and availability of genetic tools has lagged behind. In the present paper, we discuss the latest...
Biochem Soc Trans (2008) 36 (3): 306-311.
Published: 21 May 2008
...Anna L. Gloyn; Nicholas D. Tribble; Martijn van de Bunt; Amy Barrett; Paul R.V. Johnson There are well-documented examples in the literature of where determining the genetic aetiology of a disorder has provided insights into important regulatory pathways and protein interactions, and, more recently...
Biochem Soc Trans (2005) 33 (4): 586-590.
Published: 01 August 2005
... surviving neurons. Although heritability studies have shown evidence of familial aggregation, twin studies have provided limited support for a genetic aetiology. Nevertheless, classical linkage methods have nominated 11 regions of the genome and pathogenic mutations have been identified in several genes...
Biochem Soc Trans (2005) 33 (1): 306-310.
Published: 01 February 2005
... and molecular genetic characteristics that are ideal for its glucose sensor function and allow it to control glycolytic flux of the β-cells as indicated by control-, elasticity- and response-coefficients close to or larger than 1.0. GK operates in tandem with the K + and Ca 2+ channels of the β-cell...
Biochem Soc Trans (2003) 31 (2): 444-446.
Published: 01 April 2003
... genetics lymphocyte mitochondria mutation Abbreviations used: MELAS, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; mtDNA, mitochondrial DNA. H um an A ge in g: Fr om th e Be nc h to th e Cl in ic Human Ageing: From the Bench to the Clinic The Biochemical Society...
Biochem Soc Trans (2000) 28 (2): 215-219.
Published: 01 February 2000
... pathology indicates that absent or shallow invasion of foetal trophoblasts into maternal arteries is a feature of true PE. The objective of this study was to determine the genetic factors influencing PE. A large number of mother-father-baby trios were collected in which the first pregnancy was complicated...