Results 351 to 360 of about 7,162,706 (382)

Gene dosage effect in human triploid fibroblasts

Human Genetics, 1976
The 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
Meinenhofer Mc, N. Ravise, Rubinson H, Joëlle Boué, André Boué, Jean-Claude Dreyfus, Claudine Junien   +6 more
openaire   +3 more sources

Phospholamban Gene Dosage Effects in the Mammalian Heart

Circulation Research, 1996
Abstract Phospholamban ablation has been shown to result in significant increases in cardiac contractile parameters and loss of β-adrenergic stimulation. To determine whether partial reduction in phospholamban levels is also associated with enhancement of cardiac performance and to further examine the sensitivity of the ...
Thomas Doetschman, Kobra Haghighi, Beata M. Wolska, R. John Solaro, Ingrid L. Grupp, Judy M. Harrer, Gunter Grupp, Evangelia G. Kranias, Donald G. Ferguson, Wusheng Luo, Jay Patrick Slack   +10 more
openaire   +3 more sources

Dosage balance in gene regulation: biological implications

Trends in Genetics, 2005
Classical 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.
Reiner A. Veitia, James A. Birchler, Nicole C. Riddle, Donald L. Auger   +3 more
openaire   +3 more sources

Gene dosage effect in human trisomy 16

Nature, 1975
AFTER the discovery of autosomal trisomies in man, the activity of various enzymes in trisomic cells was measured in the belief that proportionality between gene dose and enzyme activity would help in identifying genes carried by trisomic chromosomes1–5.
F. Giannelli, B. Marimo
openaire   +3 more sources

Gene dosage in mice—BAC to the future

Nature Genetics, 1999
Despite remarkable strides in the human genome project, the task of understanding the function of each gene remains formidable. So, there is an urgent need for methodologies that illuminate gene function in mammals. One such tool is described on page 327 of this issue by Xiangdong Yang and colleagues1.
Susan Magdaleno, Tom Curran
openaire   +2 more sources

Gene dosage balance: deletions, duplications and dominance

Trends in Genetics, 2005
The 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   +3 more sources

Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation

Seminars in Immunopathology, 2018
Mélanie Souyris, J. E. Mejía, Julie Chaumeil, J. Guéry   +3 more
semanticscholar   +1 more source

Gene expression analysis identifies global gene dosage sensitivity in cancer

Nature Genetics, 2015
R. Fehrmann, J. Karjalainen, M. Krajewska, H. Westra, D. Maloney, A. Simeonov, T. Pers, J. Hirschhorn, R. Jansen, E. Schultes, Herman H. H. B. M. van Haagen, E. de Vries, G. T. te Meerman, C. Wijmenga, M. V. van Vugt, L. Franke   +15 more
semanticscholar   +1 more source

A Paper‐Based Wearable Photodetector for Simultaneous UV Intensity and Dosage Measurement

Advanced Functional Materials, 2021
Xiaosheng Fang
exaly  

Global miRNA dosage control of embryonic germ layer specification

Nature, 2021
Xuehui Lyu, Ge Gao, Mehdi Pirouz
exaly