Results 221 to 230 of about 488,818 (245)

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].
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Dominant maternal interactions with Drosophila segmentation genes

Roux's Archives of Developmental Biology, 1988
A systematic search for X chromosome loci showing a dominant maternal interaction with the segmentation genes Krüppel, hunchback, knirps and hairy was performed using deficiencies spanning 65% of the X chromosome. No interaction with the knirps gene was observed, but five regions of the X chromosome showed a maternal dominant interaction with the ...
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Connexin 26 gene linked to a dominant deafness

Nature, 1998
A high proportion of all cases of congenital deafness is causedby mutations in a gene coding for a gap-junction protein,connexin 26. The deafness associated with this gene, Cx26, is the autosomal recessive form, DFNB1(refs 1–3); its involvement in autosomal dominant forms of deafness has remained controversial4.
Denoyelle, Françoise, Lina-Granade, Genevieve, Plauchu, Henri, Bruzzone, Roberto, Chaïb, Hassan, Levi-Acobas, Fabienne, Weil, Dominique, Petit, Christine   +7 more
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Hypospadias in successive generations ‐ possible dominant gene inheritance

Clinical Genetics, 1976
Two families were ascertained with multiple cases of hypospadias. In one family, four generations were reported to be affected and this was proven in three generations. In the second family, a father and two sons were affected. We suggest that dominant gene inheritance may be responsible for a small number of hypospadias cases.
R B, Lowry, M R, Kliman
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Dominant genes for colorectal cancer are not rare

Annals of Human Genetics, 1992
SummaryThe genetic basis for colorectal cancer was investigated by complex segregation analysis of a published series of consecutive pedigrees ascertained through patients undergoing treatment for colorectal cancer. Analysis favoured a dominant gene or genes with a frequency of 0·006 with a lifetime penetrance of 0·63.
Houlston, R. S., Collins, Andrew, Slack, J., Morton, N. E.   +3 more
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Ribozyme Gene Therapy for Autosomal Dominant Retinal Disease

cclm, 2000
Abstract Gene delivery to cells of the retina, particularly to photoreceptor cells, has broad potential both for answering basic questions of retinal biology and for more applied therapeutic purposes. The use of ribozymes as therapy for autosomal dominant retinal diseases is a promising technique, and the theoretical and practical basis ...
W W, Hauswirth, M M, LaVail, J G, Flannery, A S, Lewin   +3 more
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V_H‐Gene Family Dominance in Ageing Mice

Scandinavian Journal of Immunology, 1994
The cellular composition and Vn‐gene family repertoire were compared in different B‐cell compartments from young adult (8–12 weeks) and old (18–24 months) C57BL/6 and BALB/c mice. Ageing mice were found to have a higher frequency of peripheral mature B cells utilizing genes from a single VH‐gene family.
A C, Viale, J A, Chies, F, Huetz, E, Malenchere, M, Weksler, A A, Freitas, A, Coutinho   +6 more
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Functional dominance among Hox genes: repression dominates activation in the regulation of dpp

Development, 1998
ABSTRACT Here we investigate the mechanisms by which Hox genes compete for the control of positional identity. Functional dominance is often observed where different Hox genes are co-expressed, and frequently the more posteriorly expressed Hox gene is the one that prevails, a phenomenon known as posterior prevalence.
Capovilla, Maria, Botas, J
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Gene therapeutic approaches for dominant retinopathies.

Current gene therapy, 2011
Over the past two decades, significant progress has been made in defining the molecular pathogenesis of hereditary retinal degenerations. Many of these are characterised by immense genetic heterogeneity. For example, in retinitis pigmentosa (RP), the most common form of this group of disorders, over 50 disease causing genes have been implicated, 20 of ...
G Jane, Farrar, Arpad, Palfi, Mary, O'Reilly   +2 more
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Functional inactivation of genes by dominant negative mutations

Nature, 1987
Molecular biologists are increasingly faced with the problem of assigning a function to genes that have been cloned. A new approach to this problem involves the manipulation of the cloned gene to create what are known as 'dominant negative' mutations.
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