Results 261 to 270 of about 252,745 (293)
Some of the next articles are maybe not open access.
Gene dosage and susceptibility to insulin‐dependent diabetes
Annals of Human Genetics, 1980Summary1. All members of 33 families in which two or more sibs have insulin‐dependent diabetes mellitus (IDDM) were HLA‐typed. The results strongly support the hypothesis that, closely linked to the HLA region, there is a locus (S) for susceptibility to IDDM.
R S, Spielman, L, Baker, C M, Zmijewski
openaire +2 more sources
CNS myelination and PLP gene dosage
Pharmacogenomics, 2001The phenomenon of gene dosage effects demonstrates that the mechanisms of some genetic diseases are best recognised at the genomic level. Classical gene mutation screening approaches utilising PCR are unsuccessful in unravelling the basis of disease because the gene sequence is unaltered and only the copy number is different.
K, Woodward, S, Malcolm
openaire +2 more sources
Gene dosage effect in human triploid fibroblasts
Human Genetics, 1976The activity of 13 cytoplasmic enzymes has been determined in fibroblast extracts from 9 triploid and 13 control lines. The results show a high activity for 2 X-linked enzymes, glucose 6-phosphate dehydrogenase and phosphoglycerate kinase. These data, together with cytogenetic observations, support the contention that 2 X chromosomes were active in the
C, Junien +6 more
openaire +2 more sources
Chromosome 18 gene dosage map 2.0
Human Genetics, 2018In 2009, we described the first generation of the chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each phenotype associated region. The goal of these annotated genetic maps is to provide clinicians with a tool to appreciate the potential clinical impact of a chromosome 18 deletion or duplication. These maps are
Jannine D. Cody +6 more
openaire +2 more sources
Dosage balance in gene regulation: biological implications
Trends in Genetics, 2005Classical studies in genetics involving aneuploidy and ploidy comparisons and sex-determination mechanisms indicated a balance phenomenon such that changes of individual chromosomal dosage altered the phenotype more dramatically than changes in ploidy.
James A, Birchler +3 more
openaire +2 more sources
Yeast histone genes show dosage compensation
Cell, 1981The copy number of yeast histone genes was increased by inserting an extra H2A,H2B gene pair into the haploid genome by the technique of yeast transformation. The presence of this extra gene copy has no detectable effect on cell growth. The steady-state levels of histone H2A,H2B mRNAs are not elevated in transformed strains, and they correspond to the ...
M A, Osley, L M, Hereford
openaire +2 more sources
Cooperation to amplify gene-dosage-imbalance effects
Trends in Molecular Medicine, 2006Trisomy 21, also known as Down syndrome (DS), is a complex developmental disorder that affects many organs, including the brain, heart, skeleton and immune system. A working hypothesis for understanding the consequences of trisomy 21 is that the overexpression of certain genes on chromosome 21, alone or in cooperation, is responsible for the clinical ...
Susana, de la Luna, Xavier, Estivill
openaire +2 more sources
Gene dosage balance: deletions, duplications and dominance
Trends in Genetics, 2005The number of known human genes whose heterozygous null alleles lead to disease (i.e. haploinsufficient genes) is increasing. A recent update shows that they encode preferentially structural proteins, transcription regulators, signal transduction elements and various binding factors [1].
openaire +2 more sources
Dosage of the Sts gene in the mouse.
American journal of human genetics, 1986In this study we compared steroid sulfatase levels in XO, XX, and XY mice and carried out a clonal analysis in fibroblast cell cultures from mice heterozygous for the steroid sulfatase deficiency gene and heterozygous at the X-linked electrophoretic phosphoglycerate kinase locus.
E, Keitges, S M, Gartler
openaire +1 more source
Dosage effects of Waxy gene on the structures and properties of corn starch
Carbohydrate Polymers, 2016Xuehong Li, Jay-Lin Jane
exaly