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Your search keyword '"Gene mutations -- Physiological aspects -- Research -- Genetic aspects"' showing total 3 results
Start Over Descriptor "Gene mutations -- Physiological aspects -- Research -- Genetic aspects" Journal journal of medical genetics
3 results on '"Gene mutations -- Physiological aspects -- Research -- Genetic aspects"'

1. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. (Original Article)

Author

Jezewski, P.A., Vieira, A.R., Nishimura, C., Ludwig, B., Johnson, M., O'Brien, S.E., Daack-Hirsch, S., Schultz, R.E., Weber, A., Nepomucena, B., Romitti, P.A., Christensen, K., Orioli, I.M., Castilla, E.E., Machida, J., Natsume, N., and Murray, J.C.

Subjects
Physiological aspects, Research, Genetic aspects, Cleft palate -- Genetic aspects -- Research, Gene mutation -- Physiological aspects -- Research -- Genetic aspects, Human population genetics -- Research -- Genetic aspects -- Physiological aspects, Cleft lip -- Genetic aspects -- Research, Gene mutations -- Physiological aspects -- Research -- Genetic aspects
Abstract

MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human [ink age and [...]

Published
2003

2. Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability. (Letter to JMG)

Author

Shin, J-H., Shin, Y-K., Ku, J-L., Jeong, S-Y., Hong, S-H., Park, S-Y., Kim, W-H., and Park, J-G.

Subjects
Diseases, Physiological aspects, Research, Genetic aspects, Risk factors, Gene mutation -- Physiological aspects -- Research -- Genetic aspects, Hair follicles -- Diseases -- Genetic aspects -- Research -- Physiological aspects, Colorectal cancer -- Genetic aspects -- Risk factors -- Research, Genetic disorders -- Research -- Genetic aspects -- Risk factors, Gene mutations -- Physiological aspects -- Research -- Genetic aspects
Abstract

Birt-Hogg-Dube (BHD) syndrome, an inherited autosomal genodermatosis characterised by benign turnouts of the hair follicle, is associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. (1) The novel causative gene, [...]

Published
2003

3. Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay. (Letter to JMG)

Author

Baralle, M., Baralle, D., Conti, L. De, Mattocks, C., Whittaker, J., Knezevich, A., Ffrench-Constant, C., and Baralle, F.E.

Subjects
Physiological aspects, Research, Genetic aspects, Neurofibromatosis -- Genetic aspects -- Research, Gene mutation -- Physiological aspects -- Research -- Genetic aspects, Gene mutations -- Physiological aspects -- Research -- Genetic aspects
Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disease. In recent studies on the neurofibromatosis type 1 (NF1) gene neurofibromin, splicing abnormalities were seen in 30-50% of cases [...]

Published
2003

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