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Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits

Autor: M S, Moshier, T P, York, J L, Silberg, S H, Elsea

Publikováno v: Journal of intellectual disability research : JIDR. 56(10)

Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25,000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negativ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1c4f71530a1aef5e1beedfa40d485094
https://pubmed.ncbi.nlm.nih.gov/22672270

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Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs

Autor: M C, Frühwald, M S, O'Dorisio, Z, Dai, L J, Rush, R, Krahe, D J, Smiraglia, T, Pietsch, S H, Elsea, C, Plass

Publikováno v: Genes, chromosomescancer. 30(1)

Deletions of 17p have been consistently reported in up to 50% of medulloblastomas (MBs), and the major breakpoint interval has been localized to chromosome segment 17p11.2. Based on several reports linking aberrant DNA methylation and chromosomal dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1eb3f848447f109a9209592ff443c84f
https://pubmed.ncbi.nlm.nih.gov/11107174

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HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers

Autor: S H, Elsea, V, Leykam

Publikováno v: Blood. 95(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::89d85ebad57bd7b2bf848c8c50fe542e
https://pubmed.ncbi.nlm.nih.gov/10787240

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Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome

Autor: S H, Elsea, K, Mykytyn, K, Ferrell, K L, Coulter, P, Das, W, Dubiel, P I, Patel, J E, Metherall

Publikováno v: American journal of medical genetics. 87(4)

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with an interstitial deletion of chromosome band 17p11.2. The critical region is extremely gene-rich and spans approximately 1.5-2.0 Mb of DNA. Here

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::16fb71a1c2acb035075d1223d262700c
https://pubmed.ncbi.nlm.nih.gov/10588842

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Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1--q11.2 with somatic cell hybrids and in situ hybridization

Autor: S H, Elsea, I B, Clark, R C, Juyal, D J, Meyer, D I, Meyer, P I, Patel

Publikováno v: Cytogenetics and cell genetics. 84(1-2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35ab12a5279ff33ccd07c89412172707
https://pubmed.ncbi.nlm.nih.gov/10343100

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Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment

Autor: D, Sun, M, McDonnell, X S, Chen, M M, Lakkis, H, Li, S N, Isaacs, S H, Elsea, P I, Patel, C D, Funk

Publikováno v: The Journal of biological chemistry. 273(50)

Expressed sequence tag information was used to clone the full-length sequence for a new human lipoxygenase from the B cell line CCL-156. A related mouse sequence with 83% nucleotide identity to the human sequence was also cloned. The human lipoxygena

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::66e261059a7057c02f91568d7ec1acbd
https://pubmed.ncbi.nlm.nih.gov/9837935

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Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity

Autor: S H, Elsea, E, Fritz, R, Schoener-Scott, M S, Meyn, P I, Patel

Publikováno v: American journal of medical genetics. 75(1)

Smith-Magenis syndrome (SMS) is caused by an interstitial deletion of chromosome band 17p11.2 averaging 4-5 Mb. This deletion is likely to contain a large number of genes, each of which could potentially contribute toward the clinical phenotype. We r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::98b051ec58d6d2746bc1f0154e47beb9
https://pubmed.ncbi.nlm.nih.gov/9450867

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A mutation in yeast TOP2 homologous to a quinolone-resistant mutation in bacteria. Mutation of the amino acid homologous to Ser83 of Escherichia coli gyrA alters sensitivity to eukaryotic topoisomerase inhibitors

Autor: Y, Hsiung, S H, Elsea, N, Osheroff, J L, Nitiss

Publikováno v: The Journal of biological chemistry. 270(35)

In prokaryotic type II topoisomerases (DNA gyrases), mutations that result in resistance to quinolones frequently occur at Ser83 or Ser84 of the gyrA subunit. Mutations to Trp, Ala, and Leu have been identified, all of which confer high levels of qui

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2cd56f5e831571aa6e817df15afd8dff
https://pubmed.ncbi.nlm.nih.gov/7657608

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A yeast type II topoisomerase selected for resistance to quinolones. Mutation of histidine 1012 to tyrosine confers resistance to nonintercalative drugs but hypersensitivity to ellipticine

Autor: S H, Elsea, Y, Hsiung, J L, Nitiss, N, Osheroff

Publikováno v: The Journal of biological chemistry. 270(4)

A mutant yeast type II topoisomerase was generated by in vitro mutagenesis followed by selection in vivo for resistance to the quinolone CP-115,953. The resulting mutant enzyme had a single point mutation which converted His1012 to Tyr (top2H1012Y).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6c2965534e229d6bc36a5453a597ebda
https://pubmed.ncbi.nlm.nih.gov/7829529

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