Wyniki wyszukiwania

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Characterisation of hypoxanthine-guanine phosphoribosyltransferase-deficient [HGPRT-] neuroblastoma: models for Lesch-Nyhan syndrome

100%

Ma M. H. Y., Stacey N. C., Korenevsky A. V., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

2

Catecholamine content of neuroblastoma: modelling Lesch-Nyhan syndrome [LNS]

88%

Korenevsky A. V., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

3

Hypoxanthine guanine phosphoribosyltransferase [HPRT] deficiency in Japanese and Korean

75%

Yamada Y., Goto H., Nomura N., Kitoh H., Ogasawara N.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

4

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Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

75%

Popowska E., Sulek A., Kubalska J., Pronicka E., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.

Journal of Applied Genetics

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1998

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tom 39

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nr 1

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.

5

Enzyme activities of purine metabolism in neurological disorders

75%

Tozzi M. G., Pesi R., Camici M., Jacomelli G., Peruzzi L., Micheli V.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

6

Enhanced adhesion of neuroblastoma models of Lesch-Nyhan syndrome [LNS] and human skin fibroblast from LNS patients

63%

Stacey N. C., Ma M. H. Y., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

7

25 years of enzymatic diagnosis of Lesch-Nyhan syndrome in Poland

63%

Jezewska M. M.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

8

Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from HGPRT - deficient transgenic mice

63%

Pelled D., Sperling O., Zoref-Shani E.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

9

Abnormal intracellular signalling in skin fibroblasts from LNS patients and HGPRT-deficient neuroblastoma

63%

Hussain S. P., Alexander N., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

10

Morphogenesis of B103 neuroblastoma and B103-4C its mutant derivative: modelling Lesch-Nyhan syndrome

63%

Ma M. H. Y., Stacey N. C., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

|

1999

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tom 04

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nr 3

11

Purine and pyrimidine levels in cultured skin fibroblasts from control and Lesch-Nyhan patients

51%

Hussain S. P., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

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1999

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tom 04

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nr 3

12

Morphological abnormalities of HGPRT-deficient mouse N2a neuroblastoma: implications for neuronal development in Lesch Nyhan syndrome

45%

Stacey N. C., Ma M. H. Y., Duley J. A., Connolly G. P.

Cellular and Molecular Biology Letters

|

1999

|

tom 04

|

nr 3

Ograniczanie wyników

Characterisation of hypoxanthine-guanine phosphoribosyltransferase-deficient [HGPRT-] neuroblastoma: models for Lesch-Nyhan syndrome

Catecholamine content of neuroblastoma: modelling Lesch-Nyhan syndrome [LNS]

Hypoxanthine guanine phosphoribosyltransferase [HPRT] deficiency in Japanese and Korean

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

Enzyme activities of purine metabolism in neurological disorders

Enhanced adhesion of neuroblastoma models of Lesch-Nyhan syndrome [LNS] and human skin fibroblast from LNS patients

25 years of enzymatic diagnosis of Lesch-Nyhan syndrome in Poland

Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from HGPRT - deficient transgenic mice

Abnormal intracellular signalling in skin fibroblasts from LNS patients and HGPRT-deficient neuroblastoma

Morphogenesis of B103 neuroblastoma and B103-4C its mutant derivative: modelling Lesch-Nyhan syndrome

Purine and pyrimidine levels in cultured skin fibroblasts from control and Lesch-Nyhan patients

Morphological abnormalities of HGPRT-deficient mouse N2a neuroblastoma: implications for neuronal development in Lesch Nyhan syndrome