Results 271 to 280 of about 142,141 (314)

Dominant effector genetics in mammalian cells

Nature Genetics, 2001
We have expressed libraries of peptides in mammalian cells to select for trans-dominant effects on intracellular signaling systems. As an example-and to reveal pharmacologically relevant points in pathways that lead to Taxol resistance-we selected for peptide motifs that confer resistance to Taxol-induced cell death.
X, Xu, C, Leo, Y, Jang, E, Chan, D, Padilla, B C, Huang, T, Lin, T, Gururaja, Y, Hitoshi, J B, Lorens, D C, Anderson, B, Sikic, Y, Luo, D G, Payan, G P, Nolan   +14 more
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The dominance of traits in genetic analysis

Journal of the History of Biology, 1991
In the modern interpretation of Mendelism, facts are being transformed into factors at a rapid rate. If one factor will not explain the facts, then two are invoked; if two prove insufficient, three will sometimes work out. The superior jugglery sometimes necessary to account for the results may blind us, if taken too naively, to the common-place that ...
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Dominant Spinocerebellar Ataxia: Genetic Counseling

Journal of Neurogenetics, 1983
Dominantly inherited spinocerebellar ataxia (OPCA 1) poses a particular problem for genetic counseling due to late age of onset. Liability for disease using observed age of onset can be combined with HLA linkage data to provide revised estimates of risk for affection.
J F, Jackson, R D, Currier, N E, Morton
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Genetics of Dominant Ataxias

2015
Dominant ataxias represent a clinically and genetically heterogeneous group of hereditary disorders comprising autosomal dominant spinocerebellar ataxias (ADCAs, SCAs) and episodic ataxias (EAs). From the clinical point of view, patients with ADCA exhibit a progressive cerebellar syndrome, either isolated or in combination with extra-cerebellar ...
Manto, Mario, Marmolino, Daniele
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Genetic heterogeneity of autosomal dominant hypercholesterolemia

Clinical Genetics, 2007
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of plasmatic low‐density lipoprotein cholesterol associated with high risk of premature cardiovascular complications. More than 1000 mutations in the LDLR gene and 9 in the APOB gene have been implicated.
M, Varret, M, Abifadel, J-P, Rabès, C, Boileau   +3 more
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Genetic Heterogeneity of Autosomal Dominant Hypercholesterolemia in Mexico

Archives of Medical Research, 2006
Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are relatively common lipid disorders caused by mutations of the low-density lipoprotein receptor (LDLR) and apolipoprotein B (apoB) genes, respectively. A third locus on chromosome 1p34.1-p32 was recently linked to FH and the responsible gene has been identified ...
Ludivina, Robles-Osorio, Alejandra, Huerta-Zepeda, Ma Luisa, Ordóñez, Samuel, Canizales-Quinteros, Andrea, Díaz-Villaseñor, Ruth, Gutiérrez-Aguilar, Laura, Riba, Adriana, Huertas-Vázquez, Maribel, Rodríguez-Torres, Rita A, Gómez-Díaz, Saul, Salinas, Laura, Ongay-Larios, Guadalupe, Codiz-Huerta, Minerva, Mora-Cabrera, Roopa, Mehta, Francisco J, Gómez Pérez, Juan A, Rull, Jean-Pierre, Rabès, Ma Teresa, Tusié-Luna, Socorro, Durán-Vargas, Carlos A, Aguilar-Salinas   +20 more
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The contribution of genetic factors to ocular dominance

Behavior Genetics, 1982
Ocular dominance was measured in 561 mother-father-first-born offspring triads. Some evidence was found for an effect of parental mating pattern on offspring eye dominance. Effects were strongest when a regression analysis, against the number of left-eyed parents, was conducted.
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Clinical and genetic characterization of an autosomal dominant nephropathy

American Journal of Medical Genetics, 2001
Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of Jewish ancestry in which 15 members (both male and female) have suffered from chronic renal failure.
R, Parvari, A, Shnaider, A, Basok, L, Katchko, Z, Borochovich, A, Kanis, D, Landau   +6 more
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Molecular Genetic Analysis in Autosomal Dominant Keratoconus

Cornea, 1992
Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophoto-keratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inheritance. Affected individuals displayed variable topographic
Y S, Rabinowitz, I H, Maumenee, M K, Lundergan, E, Puffenberger, D, Zhu, S, Antonarakis, C A, Francomano   +6 more
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Genetic evaluation methods for populations with dominance and inbreeding

Theoretical and Applied Genetics, 1993
The effect of inbreeding on mean and genetic covariance matrix for a quantitative trait in a population with additive and dominance effects is shown. This genetic covariance matrix is a function of five relationship matrices and five genetic parameters describing the population.
de Boer, I.J.M., Hoeschele, I.
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