Results 171 to 180 of about 61,326 (219)
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
FEBS Open Bio, EarlyView.Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
FEBS Open Bio, EarlyView.The brown marmorated stink bug, Halyomorpha halys, mainly secretes 4‐oxo‐(E)‐2‐hexenal, (E)‐2‐decenal, dodecane and tridecane, a mixture representative of that released by many heteropterans. We demonstrated that H. halys can synthesise these secretory components de novo using dietary glucose.
Haruna Fujimori, Koji Noge
wiley +1 more source
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When is a Behavioural Phenotype Not a Phenotype?
Developmental Medicine & Child Neurology, 1994No ...
Einfeld, Stewart L., Hall, Wayne
openaire +4 more sources
Current Opinion in Internal Medicine, 2007
Asthma is a heterogeneous disorder presenting with many phenotypes. Precise phenotypic definition has eluded the medical research community for years, despite recognition of different disease subtypes. Improved phenotypic characterization and knowledge of underlying pathobiology is necessary for linkage of specific genotypes with clinical disease ...
James, Kiley +2 more
openaire +2 more sources
Asthma is a heterogeneous disorder presenting with many phenotypes. Precise phenotypic definition has eluded the medical research community for years, despite recognition of different disease subtypes. Improved phenotypic characterization and knowledge of underlying pathobiology is necessary for linkage of specific genotypes with clinical disease ...
James, Kiley +2 more
openaire +2 more sources
Cancer and Metastasis Reviews, 1990
The expression of the invasive (I+ or I-) phenotypes determines cancer metastasis (M+ or M- phenotype). The invasive (I+ or I-) phenotypes can be divided according to time and site of expression into subphenotypes, which can be assessed separately. At various sites along the metastatic pathway the expression of the I phenotypes can be accompanied by ...
M M, Mareel +2 more
openaire +2 more sources
The expression of the invasive (I+ or I-) phenotypes determines cancer metastasis (M+ or M- phenotype). The invasive (I+ or I-) phenotypes can be divided according to time and site of expression into subphenotypes, which can be assessed separately. At various sites along the metastatic pathway the expression of the I phenotypes can be accompanied by ...
M M, Mareel +2 more
openaire +2 more sources
Annals of Otology, Rhinology & Laryngology, 2001
We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age over
Leenheer, E. de +4 more
openaire +3 more sources
We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age over
Leenheer, E. de +4 more
openaire +3 more sources
2020
Clinical presentation of Klinefelter’s syndrome is highly heterogeneous, explaining why the disease is often undiagnosed. Klinefelter patients have traditionally been described as tall, with gynecomastia, small and firm testicles. Beyond this classical phenotype, less distinct phenotypes have been described with less evident features.
De Vincentis S., Rochira V.
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Clinical presentation of Klinefelter’s syndrome is highly heterogeneous, explaining why the disease is often undiagnosed. Klinefelter patients have traditionally been described as tall, with gynecomastia, small and firm testicles. Beyond this classical phenotype, less distinct phenotypes have been described with less evident features.
De Vincentis S., Rochira V.
openaire +1 more source
Neurology, 1996
To the Editor: The editorial by Rosenberg [1] is a superb analysis of the current genotype situation in the field of the hereditary ataxias. Rosenberg is quite right in his comments that the genotype has great importance in clarifying the issue of correlation …
R D, Currier, S H, Subramony
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To the Editor: The editorial by Rosenberg [1] is a superb analysis of the current genotype situation in the field of the hereditary ataxias. Rosenberg is quite right in his comments that the genotype has great importance in clarifying the issue of correlation …
R D, Currier, S H, Subramony
openaire +2 more sources
Genetically altered mice: phenotypes, no phenotypes, and Faux phenotypes
Genetica, 2004'Phenotype' means different things, but whatever the measure, phenotype can be profoundly influenced by genetic, environmental and infectious variables. The laboratory mouse is a complex multisystemic organism which, despite its genetically inbred nature, as highly variable pathophysiologic characteristics. Mouse strains have background characteristics
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2008
Definition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the ...
Mary K, Wojczynski, Hemant K, Tiwari
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Definition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the ...
Mary K, Wojczynski, Hemant K, Tiwari
openaire +2 more sources