Search Results - "Callen, D F"

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene by BELL, R, BRICE, G, MORTIMER, P, JEFFERY, S, CHILD, A. H, MURDAY, V. A, MANSOUR, S, SANDY, C. J, COLLIN, J. R. O, BRADY, A. F, CALLEN, D. F, BURNAND, K

“…Lymphoedema-distichiasis (LD) is a dominantly inherited form of primary lymphoedema with onset of lower limb swelling at puberty or later. There is variable…”
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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis by Hoff, William van't, Bates, Gillian P, Antignac, Corinne, Jean, Geneviève, Forestier, Lionel, Gribouval, Olivier, Whitmore, Scott A, Town, Margaret, Broyer, Michel, Cherqui, Stèphanie, Attard, Marlene, Callen, David F

“…Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal…”
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Mutant p53 drives invasion in breast tumors through up-regulation of miR-155 by Neilsen, P M, Noll, J E, Mattiske, S, Bracken, C P, Gregory, P A, Schulz, R B, Lim, S P, Kumar, R, Suetani, R J, Goodall, G J, Callen, D F

“…Loss of p53 function is a critical event during tumorigenesis, with half of all cancers harboring mutations within the TP53 gene. Such events frequently result…”
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CARD15/NOD2 Risk Alleles in the Development of Crohn's Disease in the Australian Population by Cavanaugh, J. A., Adams, K. E., Quak, E. J., Bryce, M. E., O'Callaghan, N. J., Rodgers, H. J., Magarry, G. R., Butler, W. J., Eaden, J. A., Roberts‐Thomson, I. C., Pavli, P., Wilson, S. R., Callen, D. F.

“…Summary We have previously reported strong evidence for linkage between IBD1 and Crohn's disease (CD) in Australian Crohn's disease families. Three risk…”
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Mutant p53 upregulates alpha-1 antitrypsin expression and promotes invasion in lung cancer by Shakya, R, Tarulli, G A, Sheng, L, Lokman, N A, Ricciardelli, C, Pishas, K I, Selinger, C I, Kohonen-Corish, M R J, Cooper, W A, Turner, A G, Neilsen, P M, Callen, D F

“…Missense mutations in the TP53 tumor-suppressor gene inactivate its antitumorigenic properties and endow the incipient cells with newly acquired oncogenic…”
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Expression of ZNF652, a novel zinc finger protein, in vulvar carcinomas and its relation to prognosis by Holm, R, Knopp, S, Kumar, R, Lee, J, Nesland, J M, Tropè, C, Callen, D F

“…To determine the levels of expression of ZNF652 and its relevance to prognosis in vulvar squamous cell carcinomas. 22 cases of vulvar intraepithelial neoplasia…”
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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA by Kruyt, Frank A.E, Buchwald, Manuel, Lightfoot, Jeff, Joenje, Hans, Strunk, Mark H.P, Cheng, Ngan C, Pronk, Jan C, Gille, Johan J.P, Pals, Gerard, Arwert, Fré, Alon, Noa, Savoia, Anna, Parker, Linda, Carreau, Madeleine, van Berkel, Carola G.M, Rooimans, Martin A, Wijker, Mario, Lo Ten Foe, Jerome R, Bosnoyan-Collins, Lucine, Callen, David F

“…Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone…”
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Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11 by Noll, J E, Jeffery, J, Al-Ejeh, F, Kumar, R, Khanna, K K, Callen, D F, Neilsen, P M

“…Mutations of p53 in cancer can result in a gain of function associated with tumour progression and metastasis. We show that inducible expression of several p53…”
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Incidence and origin of null alleles in the (AC)n microsatellite markers by CALLEN, D. F, THOMPSON, A. D, YANG SHEN, PHILLIPS, H. A, RICHARDS, R. I, MULLEY, J. C, SUTHERLAND, G. R

“…Twenty-three (AC)n repeat markers from chromosome 16 were typed in the parents of the 40 CEPH (Centre d'Etude du Polymorphisme Humain) families. Where parents…”
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A familial cryptic subtelomeric deletion 12p with variable phenotypic effect by Baker, E, Hinton, L, Callen, DF, Haan, EA, Dobbie, A, Sutherland, GR

“…A 15‐year‐old‐boy and his mother, both carrying a cryptic deletion within 12p13.33, are described. The proband has a mild phenotype with moderate mental…”
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Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16 by CAVANAUGH, J. A., CALLEN, D. F., WILSON, S. R., STANFORD, P. M., SRAML, M. E., GORSKA, M., CRAWFORD, J., WHITMORE, S. A., SHLEGEL, C., FOOTE, S., KOHONEN-CORISH, M., PAVLI, P.

“…A number of localizations for the putative susceptibility gene(s) have been identified for both Crohn's disease and ulcerative colitis. In a genome wide scan,…”
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Chromosomal origin of small ring marker chromosomes in man : characterization by molecular genetics by CALLEN, D. F, EYRE, H. J, RINGENBERGS, M. L, FREEMANTLE, C. J, WOODROFFE, P, HAAN, E. A

“…Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing…”
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Localization of Human Cadherin Genes to Chromosome Regions Exhibiting Cancer-Related Loss of Heterozygosity by Kremmidiotis, Gabriel, Baker, Elizabeth, Crawford, Joanna, Eyre, Helen J., Nahmias, Joseph, Callen, David F.

“…This report presents the chromosomal localization of cadherin genes. Cadherins are cellular adhesion molecules. Since disturbance of intracellular adhesion is…”
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Implications of FRA16A Structure for the Mechanism of Chromosomal Fragile Site Genesis by Nancarrow, J. K., Kremer, E., Holman, K., Eyre, H., Doggett, N. A., Le Paslier, D., Callen, D. F., Sutherland, G. R., Richards, R. I.

“…Fragile sites are chemically induced nonstaining gaps in chromosomes. Different fragile sites vary in frequency in the population and in the chemistry of their…”
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A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction by Callen, D F, Eyre, H, McDonnell, S, Schuffenhauer, S, Bhalla, K

“…Detailed fluorescence in situ hybridisation analysis of a previously described translocation revealed it to be a more complex rearrangement consisting of both…”
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Genetic association of 11β-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks by WATSON, B. JR, BERGMAN, S. M, MYRACLE, A, CALLEN, D. F, ACTON, R. T, WARNOCK, D. G

“…11 beta-Hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) specifically modulates access of the mineralocorticoid aldosterone to the kidney mineralocorticoid…”
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The Batten Disease Gene Product (CLN3p) Is a Golgi Integral Membrane Protein by Kremmidiotis, Gabriel, Lensink, Ingrid L., Bilton, Rebecca L., Woollatt, Erica, Chataway, Timothy K., Sutherland, Grant R., Callen, David F.

“…Batten disease (juvenile neuronal ceroid lipofuscinosis) is a recessive neurodegenerative disorder of childhood. The gene, CLN3, was recently identified and…”
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Integration of cytogenetic landmarks into the draft sequence of the human genome by Trask, B. J, BAC Resource Consortium, The, Cheung, V. G, Nowak, N, Jang, W, Kirsch, I. R, Zhao, S, Chen, X.-N, Furey, T. S, Kim, U.-J, Kuo, W.-L, Olivier, M, Conroy, J, Kasprzyk, A, Massa, H, Yonescu, R, Sait, S, Thoreen, C, Snijders, A, Lemyre, E, Bailey, J. A, Bruzel, A, Burrill, W. D, Clegg, S. M, Collins, S, Dhami, P, Friedman, C, Han, C. S, Herrick, S, Lee, J, Ligon, A. H, Lowry, S, Morley, M, Narasimhan, S, Osoegawa, K, Peng, Z, Plajzer-Frick, I, Quade, B. J, Scott, D, Sirotkin, K, Thorpe, A. A, Gray, J. W, Hudson, J, Pinkel, D, Ried, T, Rowen, L, Shen-Ong, G. L, Strausberg, R. L, Birney, E, Callen, D. F, Cheng, J.-F, Cox, D. R, Doggett, N. A, Carter, N. P, Eichler, E. E, Haussler, D, Korenberg, J. R, Morton, C. C, Albertson, D, Schuler, G, de Jong, P. J

“…We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross…”
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Molecular cloning and physical and genetic mapping of a novel human Na +/H + exchanger (NHE5/SLC9A5) to chromosome 16q22.1 by Klanke, Charles A., Su, Yan Ru, Callen, David F., Wang, Zhuo, Meneton, Pierre, Baird, Nancy, Kandasamy, Ramani A., Orlowski, John, Otterud, Brith E., Leppert, Mark, Shull, Gary E., Menon, Anil G.

“…A human genomic clone for a novel fifth member of the Na +/H + exchanger (NHE) family, NHE5 (gene symbol SLC9A5), has been isolated and partially sequenced…”
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Localization of the human multiple drug resistance gene, MDR1, to 7q21.1 by CALLEN, D. F, BAKER, E, SIMMERS, R. N, SESHADRI, R, RONINSON, I. B

“…Multiple drug resistance has been shown to be associated with amplification/increased expression of a gene designated MDR. The localization of one member of…”
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