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Your search keyword '"Murray, J.C."' showing total 27 results
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27 results on '"Murray, J.C."'

1. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

Author

Osoegawa, K., Vessere, G.M., Utami, K.H., Mansilla, M.A., Johnson, M.K., Riley, B.M., L'Heureux, J., Pfundt, R., Staaf, J., van der Vliet, W.A., Lidral, A.C., Schoenmakers, E.F.P.M., Borg, A., Schutte, B.C., Lammer, E.J., Murray, J.C., and de Jong, P.J.

Subjects
Cleft lip -- Genetic aspects, Cleft palate -- Genetic aspects, DNA microarrays -- Usage, DNA microarrays -- Research, Health
Published
2008

2. TBX22 mutations are a frequent cause of cleft palate

Author

Marcano, A.C.B., Doudney, K., Braybrook, C., Squires, R., Patton, M.A., Lees, M.M., Richieri-Costa, A., Lidral, A.C., Murray, J.C., Moore, George Edward, and Stanier, P.

Abstract

J Med Genet 2004;41:68-74. doi: 10.1136/jmg.2003.010868 Cleft lip and/or cleft palate is among the most frequent birth defect seen in humans, with a reported prevalence of 1 in 700 births [...]

Published
2004

3. 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

4. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. (Letter to JMG)

Author

Watanabe, Y., Benson, D.W., Yano, S., Akagi, T., Yoshino, M., and Murray, J.C.

Subjects
Research, Genetic aspects, Health aspects, Medical genetics -- Research -- Health aspects, Heart diseases -- Genetic aspects -- Research, Gene mutation -- Health aspects -- Research -- Genetic aspects, Familial diseases -- Genetic aspects -- Research, Genetic disorders -- Research -- Genetic aspects, Gene mutations -- Health aspects -- Research -- Genetic aspects
Abstract

Recently, heterozygous mutations of human NKX2.5 were identified in patients with congenital heart disease. (1 2) The most common phenotypes were progressive atriaventricular conduction delays (AV block) and secundum atrial [...]

Published
2002

5. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. (Original Article)

Author

Barrow, L.L., Bokhoven, H. van, Daack-Hirsch, S., Andersen, T., Beersum, S.E.C. van, Gorlin, R., and Murray, J.C.

Subjects
Research, Birth defects -- Research, Genetic disorders -- Research, EEC syndrome -- Research
Abstract

EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygaus p63 mutations [...]

Published
2002

6. Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4

Author

Stadler, H.S., Padanilam, B.J., Buetow,K., Murray, J.C., and Solursh, M.

Subjects
Homeobox genes -- Identification and classification, Science and technology
Abstract

A homeoboxgene that had only 57%-65% amino acid identity with previously identified homeodomains was isolated when a degenerate oligonucleotide probe based on the conserved third helix of homeobox genes was used to screen a human craniofacialcDNA library. The gene, called H6, was mapped to the 4p16.1 region of human chromosome 4. Identity comparisons showed closest identity of H6 to the Nk class of homeobox genes in Drosophila melanogaster. The findings suggest a rolefor homeobox genes in mammalian development.

Published
1992

7. Cellular distribution of nonionic micelles

Author

Moghimi, S.M., Hunter, A.C., Murray, J.C., and Szewczyk, A.

Abstract

IN THEIR REPORT 'MICELLAR NANOCONTAINERS distribute to defined cytoplasmic organelles' (25 April, p. 615), R. Savic et al. studied the intracellular distribution of endocytosed poly[(caprolactone).sub.23]-poly[(ethylene oxide).sub.45] (PCL-PEO) micelles in PC12 [...]

Published
2004

12. TGFA is a genetic modifier of Van der Woude Syndrome

Author

Zucchero, T.M., Schutte, B.C., Daack-Hirsch, S., and Murray, J.C.

Subjects
Cleft lip -- Genetic aspects, Cleft palate -- Genetic aspects, Human genetics -- Research, Genetic disorders -- Research, Biological sciences
Published
2001

16. Mutations in MSX1 are associated with Non-Syndromic Orofacial Clefting

Author

Jezewski, P., Vieira, A., Schultz, R., Machida, J., Suzuki, Y., Ludwig, B., Daack-Hirsch, S., O'Brien, S., Nishimura, C., Johnson, M., and Murray, J.C.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Cleft palate -- Genetic aspects, Cleft lip -- Genetic aspects, Birth defects -- Genetic aspects, Biological sciences
Published
2001

27. PITX2 Expression and Activity in a Tooth Epithelial Cell Line

Author

Hjalt, T.A., Sutherland, L.B., Seminal, E.V., Murray, J.C., Snead, M.L., and Amendt, B.A.

Subjects
Genetic transcription -- Analysis, Epithelial cells -- Research, Cell interaction -- Genetic aspects, Teeth -- Genetic aspects, Biological sciences
Abstract

Pitx2 is the earliest known transcription factor that is selectively expressed in the oral ectoderm. Expression was detected as early as day 8.5 in the mouse stomatodeal ectoderm and is maintained through formation of preameloblasts. We are using a cell line (LS-8) derived from the mouse enamel organ epithelia to study PITX2 transcriptional activity and factors involved in tooth development. Our studies with a bicoid TK promoter revealed a 3-fold increase in basal transcription when transfected in the LS-8 cells compared to COS cells. Furthermore, transfection of a PITX2 expression plasmid into LS-8 cells results in a 3-fold activation of the bicoid TK promoter compared to PITX2 transfected COS cells. These data indicate that the LS-8 cell line contains addition factors that stimulate PITX2 transactivation activity. We have tentatively identified PITX2 interacting factors in LS-8 nuclear extracts by EMSA and GST-PITX2 pull down assays. LS-8 cells express Pitx2 endogenously albeit at low levels as determined by RT-PCR, Western blot and immunostaining assays. Pitx2 is nuclear localized in these cells and we demonstrate that PITX2 is phosphorylated by a kinase activity associated with LS-8 nuclear extracts.

Published
2000

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