Search Results - "Vulliamy, T J"

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 by Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I.

“…Hoyeraal‐Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly,…”
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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions by Heiss, Nina S, Knight, Stuart W, Vulliamy, Tom J, Klauck, Sabine M, Wiemann, Stefan, Mason, Philip J, Poustka, Annemarie, Dokal, Inderjeet

“…X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted…”
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Identification of novel DKC1 mutations in patients with dyskeratosis congenita : implications for pathophysiology and diagnosis by KNIGHT, Stuart W, VULLIAMY, Tom J, MORGAN, Ben, DEVRIENDT, Koen, MASON, Philip J, DOKAL, Inderjeet

“…Dyskeratosis congenita (DC) is characterised by the failure of those tissues that are rapidly dividing in the adult, particularly the skin and haemopoietic…”
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Glucose-6-phosphate dehydrogenase deficiency by Mehta, Atul, Mason, Philip J., Vulliamy, Tom J.

“…Glucose-6-phosphate dehydrogenase (G6PD) is expressed in all tissues, where it catalyses the first step in the pentose phosphate pathway. G6PD deficiency is…”
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Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier by Vulliamy, T.J., Knight, S.W., Heiss, N.S., Smith, O.P., Poustka, A., Dokal, I., Mason, P.J.

“…X-linked dyskeratosis congenita (DC) is a bone marrow failure syndrome caused by mutations in the DKC1 gene located at Xq28. By 20 years of age, most affected…”
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Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections by Roos, Dirk, van Zwieten, Rob, Wijnen, Juul T., Gómez-Gallego, Felix, de Boer, Martin, Stevens, David, Pronk-Admiraal, Claudia J., de Rijk, Thea, van Noorden, Cornelis J.F., Weening, Ron S., Vulliamy, Tom J., Ploem, J. Eduard, Mason, Philip J., Bautista, José M., Khan, P. Meera, Beutler, Ernest

“…We have investigated the blood cells from a woman with a low degree of chronic nonspherocytic hemolytic anemia and frequent bacterial infections accompanied by…”
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Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex by Vulliamy, T.J., Dokal, I.

“…Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk of malignancy and other somatic…”
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Diverse Point Mutations in the Human Glucose-6-phosphate Dehydrogenase Gene Cause Enzyme Deficiency and Mild or Severe Hemolytic Anemia by Vulliamy, T. J., D'Urso, M., Battistuzzi, G., Estrada, M., Foulkes, N. S., Martini, G., Calabro, V., Poggi, V., Giordano, R., Town, M., Luzzatto, L., Persico, M. G.

“…Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is a common genetic abnormality affecting an estimated 400 million people worldwide. Clinical…”
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Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme by NAYLOR, C. E, ROWLAND, P, BASAK, A. K, GOVER, S, MASON, P. J, BAUTISTA, J. M, VULLIAMY, T. J, LUZZATTO, L, ADAMS, M. J

“…Human glucose 6-phosphate dehydrogenase (G6PD) has a particularly large number of variants resulting from point mutations; some 60 mutations have been…”
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Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu Archipelago (southwestern Pacific) by GANCZAKOWSKI, M, TOWN, M, BOWDEN, D. K, VULLIAMY, T. J, KANEKO, A, CLEGG, J. B, WEATHERALL, D. J, LUZZATTO, L

“…In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we…”
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X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene by Knight, S.W., Heiss, N.S., Vulliamy, T.J., Greschner, S., Stavrides, G., Pai, G.S., Lestringant, G., Varma, N., Mason, P.J., Dokal, I., Poustka, A.

“…Dyskeratosis congenita is a rare inherited bone marrow–failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia…”
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Skewed X-inactivation in carriers of X-linked dyskeratosis congenita by VULLIAMY, T. J, KNIGHT, S. W, DOKAL, I, MASON, P. J

“…A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with bone marrow failure, has been mapped to chromosome Xq28, but autosomal…”
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1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis by Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, D'Urso, M, Poustka, A, Mason, P J, Dokal, I

“…Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal…”
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Polymorphic Sites in the African Population Detected by Sequence Analysis of the Glucose-6-Phosphate Dehydrogenase Gene Outline the Evolution of the Variants A and A by Vulliamy, T. J., Othman, A., Town, M., Nathwani, A., Falusi, A. G., Mason, P. J., Luzzatto, L.

“…The human X chromosome-linked gene encoding glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) is known to be highly polymorphic from the biochemical…”
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A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala→Gly), is the major polymorphic variant in tribal populations in India by KAEDA, J. S, CHHOTRAY, G. P, MASON, P. J, RANJIT, M. R, BAUTISTA, J. M, REDDY, P. H, STEVENS, D, NAIDU, J. M, BRITT, R. P, VULLIAMY, T. J, LUZZATTO, L

“…Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is usually found at high frequencies in areas of the world where malaria has been endemic. The frequency…”
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Organization of the Human Protein 4.1 Genomic Locus: New Insights into the Tissue-Specific Alternative Splicing of the Pre-mRNA by Baklouti, Faouzi, Huang, Shu-Ching, Vulliamy, Tom J., Delaunay, Jean, Benz, Edward J.

“…Protein 4.1 is a globular 80-kDa component of the erythrocyte membrane skeleton that enhances spectrin–actin interaction via its internal 10-kDa domain…”
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G6PD haplotypes spanning Xq28 from F8C to red/green color vision by Filosa, S, Calabrò, V, Lania, G, Vulliamy, T J, Brancati, C, Tagarelli, A, Luzzatto, L, Martini, G

“…The most telomeric region of the human X chromosome within band Xq28 consists of a gene-rich region of about 3 Mb which contains the genes for coagulation…”
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Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia by Vulliamy, Tom J., Kaeda, Jaspal S., Ait‐Chafa, Dahlila, Mangerini, Rosa, Roper, David, Barbot, Jose, Mehta, Athul B., Athanassiou‐Metaxa, Luzzatto, Lucio, Mason, Philip J.

“…We have determined the causative mutation in 12 cases of glucose‐6‐phosphate dehydrogenase deficiency associated with chronic non‐spherocytic haemolytic…”
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G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews by OPPENHEIM, A, JURY, C. L, RUND, D, VULLIAMY, T. J, LUZZATTO, L

“…The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency…”
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G6PD canton a common deficient variant in South East Asia caused by a 459 arg→leu mutation by STEVENS, D. J, WANACHIWANAWIN, W, MASON, P. J, VULLIAMY, T. J, LUZZATTO, L

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