Zobrazeno 1 - 10
of 29
pro vyhledávání: '"S D Pena"'
Autor:
T. Schober, T. Magg, M. Laschinger, M. Rohlfs, N. D. Linhares, J. Puchalka, T. Weisser, K. Fehlner, J. Mautner, C. Walz, K. Hussein, G. Jaeger, B. Kammer, I. Schmid, M. Bahia, S. D. Pena, U. Behrends, B. H. Belohradsky, C. Klein, F. Hauck
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
CARMIL2 (Rltpr) is involved in T-cell function. Here, the authors identify human CARMIL2-deficiency as an autosomal recessive primary immunodeficiency disorder characterized by EBV+smooth muscle tumours, CD28 co-signalling deficiency and impaired cyt
Externí odkaz:
https://doaj.org/article/e9f075515e8e4545955a0e18ed4bdd76
Autor:
Janick Selves, S D Pena, C Bavoux, Conceição R. S. Machado, J. S. Hoffmann, Christophe Cazaux, F. Lemee, Rosine Guimbaud, A. Bieth, Marie-Jeanne Pillaire
Publikováno v:
Oncogene. 26(23)
The low-fidelity DNA polymerases thought to be specialized in DNA damage processing are frequently misregulated in cancers. We show here that DNA polymerase kappa (polkappa), prone to replicate across oxidative and aromatic adducts and known to funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f48dca31425c922014d0d6f24744029
https://pubmed.ncbi.nlm.nih.gov/17099721
https://pubmed.ncbi.nlm.nih.gov/17099721
Publikováno v:
Journal of medical genetics. 36(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d07c4864e270932ca16f293a077581dc
https://pubmed.ncbi.nlm.nih.gov/10874644
https://pubmed.ncbi.nlm.nih.gov/10874644
Publikováno v:
Human biology. 71(2)
We investigated 245 white Brazilians for the presence of the 9-bp deletion in the intergenic COII/tRNALys region of the mitochondrial DNA (mtDNA) and found the deletion in 21 individuals (8.6% of the sample). Because white Brazilians are believed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d39592058c651ebe4856fc60caae3e1e
https://pubmed.ncbi.nlm.nih.gov/10222646
https://pubmed.ncbi.nlm.nih.gov/10222646
Publikováno v:
The Journal of parasitology. 84(6)
Another approach for the identification of genes that code for antigenic products is described using an antigenic sequence tag (AST) strategy. A Schistosoma mansoni adult worm cDNA library was screened with affinity chromatography-purified immunoglob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3fb83af7d42d1c2d5ef45e7b1384877b
https://pubmed.ncbi.nlm.nih.gov/9920341
https://pubmed.ncbi.nlm.nih.gov/9920341
Characterization and mapping of four novel human expressed polymorphic trinucleotide microsatellites
Publikováno v:
Gene. 223(1-2)
Recently, several important human genetic diseases have been shown to be due to pathological expansion of expressed trinucleotide microsatellites. Discovery of other such 'expansion diseases' will depend on characterization of more expressed loci con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::31bc3ca983e1a69a9b7bc7c10c4f5f4e
https://pubmed.ncbi.nlm.nih.gov/9858768
https://pubmed.ncbi.nlm.nih.gov/9858768
Publikováno v:
Human heredity. 49(1)
Although the deletion of one of the 9-bp repeats in region V of mitochondrial DNA is very common in Asians, Asian-derived populations and Africans, the triplication of the 9-bp segment was described only a few times, mostly on individuals from Asian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f4c14fe289b81ddb6ab3cfe696ae6be
https://pubmed.ncbi.nlm.nih.gov/9858860
https://pubmed.ncbi.nlm.nih.gov/9858860
Publikováno v:
The Journal of parasitology. 83(4)
Genomic DNA was extracted from Schistosoma mansoni adult worms and deliberately degraded by sonication. Samples with varying average molecular weight were subjected to RAPD (randomly amplified polymorphic DNA) analysis using the primer 3307 (5'-AGTGC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41c73a28b4896dfc136c1b0ae2361f0c
https://pubmed.ncbi.nlm.nih.gov/9267422
https://pubmed.ncbi.nlm.nih.gov/9267422
Autor:
L K, Jannotti-Passos, T H, Vidigal, E, Dias-Neto, S D, Pena, A J, Simpson, W O, Dutra, C P, Souza, J F, Carvalho-Parra
Publikováno v:
The Journal of parasitology. 83(3)
Schistosoma infection in Biomphalaria glabrata can be detected by either exposing snails to light to induce cercarial shedding or by squeezing them between glass slides to detect parasites in the digestive gland and other regions. The methods availab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a9b4ad30da6c924b2f02daa0826533ca
https://pubmed.ncbi.nlm.nih.gov/9194818
https://pubmed.ncbi.nlm.nih.gov/9194818
Autor:
N O, Bianchi, G, Bailliet, C M, Bravi, R F, Carnese, F, Rothhammer, V L, Martínez-Marignac, S D, Pena
Publikováno v:
American journal of physical anthropology. 102(1)
We analysed the frequency of six Y-specific polymorphisms in 105 Amerindian males from seven different populations, 42 Caucasian males, and a small number of males of African, Chinese, and Melanesian origin. The combination of three of the six polymo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::26d54ee986dec18efde624800b4c5d4b
https://pubmed.ncbi.nlm.nih.gov/9034040
https://pubmed.ncbi.nlm.nih.gov/9034040