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Genetic mechanisms for dominant VH gene expression. The VHB512 gene
The Journal of Immunology, 1992Abstract A total of 37 mAb with reactivity for dextran B512 have been studied; 30 of them were products of independent rearrangements and 21 made use of the same VH gene, the VHB512 gene. These results unambiguously established that the immune response to dextran in the high responder mouse strain C57BL/6 was restricted.
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Gene-Based Therapies for Dominant Retinopathies
Current Gene Therapy, 2010Over 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, approximately 50 disease causing genes have been ...
G. Jane Farrar +3 more
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Severe Renal Dysgenesis Produced by a Dominant Gene
Archives of Pediatrics & Adolescent Medicine, 1976A woman with the autosomal dominant syndrome of preauricular pits, cervical fistulae, and partial deafness gave birth to two children with preauricular pits and severe renal dysgenesis. The facies had some features of the Potter facies of renal agenesis. One child died soon after birth because of pneumothorax and immature development of the lungs.
N, Fitch, H, Srolovitz
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Gene Augmentation for Autosomal Dominant CRX-Associated Retinopathies
2023The cone-rod homeobox (CRX) protein is a key transcription factor essential for photoreceptor function and survival. Mutations in human CRX gene are linked to a wide spectrum of blinding diseases ranging from mild macular dystrophy to severe Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP).
Chi, Sun, Shiming, Chen
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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].
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Dominant maternal interactions with Drosophila segmentation genes
Roux's Archives of Developmental Biology, 1988A 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, 1998A 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 +7 more
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Hypospadias in successive generations ‐ possible dominant gene inheritance
Clinical Genetics, 1976Two 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, 1992SummaryThe 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. +3 more
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Ribozyme Gene Therapy for Autosomal Dominant Retinal Disease
cclm, 2000Abstract 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 +3 more
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