Results 271 to 280 of about 145,057 (324)

The genetics of autosomal dominant familial hypercholesterolemia

Journal of the American Association of Nurse Practitioners, 2023
ABSTRACT Familial hypercholesterolemia (FH) is one of the most common genetic conditions. Affected individuals are unable to metabolize cholesterol due to inherited changes in the low-density lipoprotein (LDL) receptor, which impairs the ability to metabolize cholesterol, resulting in extremely high levels of cholesterol that leads to ...
Sharon Anderson, Christina Botti
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Dominance and Genetic Drift

Crop Science, 2003
Many public sector maize recurrent selection programs have been designed based on additive genetic expectations. Populations have been managed as large metapopulations with the assumption that population size must be very large because inbreeding due to finite size causes a linear reduction in genetic variance; we show that in BS13(S)C0 such ...
Jode W. Edwards, Kendall R. Lamkey
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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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The genetics of dominant osteopetrosis

Drug Discovery Today: Disease Mechanisms, 2005
Autosomal dominant osteopetroses (ADO) are classically divided into two types, ADOI and ADOII, which are differentiated according to the main sites of osteosclerosis localization. For ADOI this is the cranial vault and, for ADOII, the spine, pelvis and skull base.
Frattini A., Vezzoni P., Villa A.
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Genetic Basis of Dominant Dystonia

1997
Publisher Summary Dominant dystonia is caused by mutations of the cyclohydrolase I (GCH) gene and is because of resultant partial striatal DA deficiency in the nigrostriatal DA neurons. Dopamine (DA) is synthesized from tyrosine via dopa by tyrosine hydroxylase (TH) and aromatic amino acid decarboxylase.
T. Nagatsu, H. Ichinose
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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 Genetics of a Dominant Inhibitor of the Lutheran Antigens

Vox Sanguinis, 1973
Abstract. A family is reported in which the phenotype Lu(a‐b‐) is present in three generations. The family shows that the inhibitor, known to be dominant in effect, which prevents the proper expression of Lub, prevents also that of Lua. It further shows that the inhibitor locus is not part of the Lutheran locus.
V, Taliano, R M, Guévin, P, Tippett
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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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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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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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