Search Results - "Alam, N.A."

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer by Alam, N.A., Olpin, S., Leigh, I.M.

“…Summary Germline heterozygous loss‐of‐function mutations of fumarate hydratase (FH) predispose to the autosomal dominant syndrome of multiple cutaneous and…”
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Localization of a Gene ( MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43 by Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E.M., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S., Dalziel, K., Calonje, E., Anderson, J., August, P.J., Davies, M.G., Felix, R., Munro, C.S., Murdoch, M., Rendall, J., Kennedy, S., Leigh, I.M., Kelsell, D.P., Tomlinson, I.P.M., Houlston, R.S.

“…Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide…”
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Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations by Pollard, P.J., Brière, J.J., Alam, N.A., Barwell, J., Barclay, E., Wortham, N.C., Hunt, T., Mitchell, M., Olpin, S., Moat, S.J., Hargreaves, I.P., Heales, S.J., Chung, Y.L., Griffiths, J.R., Dalgleish, A., McGrath, J.A., Gleeson, M.J., Hodgson, S.V., Poulsom, R., Rustin, P., Tomlinson, I.P.M.

“…The nuclear-encoded Krebs cycle enzymes, fumarate hydratase (FH) and succinate dehydrogenase (SDHB, -C and -D), act as tumour suppressors. Germline mutations…”
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Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency by Alam, N.A., Rowan, A.J., Wortham, N.C., Pollard, P.J., Mitchell, M., Tyrer, J.P., Barclay, E., Calonje, E., Manek, S., Adams, S.J., Bowers, P.W., Burrows, N.P., Charles-Holmes, R., Cook, L.J., Daly, B.M., Ford, G.P., Fuller, L.C., Hadfield-Jones, S.E., Hardwick, N., Highet, A.S., Keefe, M., MacDonald-Hull, S.P., Potts, E.D.A., Crone, M., Wilkinson, S., Camacho-Martinez, F., Jablonska, S., Ratnavel, R., MacDonald, A., Mann, R.J., Grice, K., Guillet, G., Lewis-Jones, M.S., McGrath, H., Seukeran, D.C., Morrison, P.J., Fleming, S., Rahman, S., Kelsell, D., Leigh, I., Olpin, S., Tomlinson, I.P.M.

“…Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility…”
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Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability by Alam, N.A., Gorman, P., Jaeger, E.E.M., Kelsell, D., Leigh, I.M., Ratnavel, R., Murdoch, M.E., Houlston, R.S., Aaltonen, L.A., Roylance, R.R., Tomlinson, I.P.M.

“…Exonuclease 1 ( EXO1) is a candidate gene for colorectal tumor susceptibility because it is believed to play a role in mismatch repair. There have been several…”
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