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Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

Autor: Marc Billaud, Massimo Santoro, G De Vita, C. Bidaud, O. Geneste, Charles H.C.M. Buys, Sophie Tartare-Deckert, Robert M.W. Hofstra, Gilbert M. Lenoir

Publikováno v: Human molecular genetics. 8(11)

The RET gene codes for a transmembrane tyrosine kinase which is a subunit of a multimeric complex that acts as a receptor for four structurally related molecules: the glial cell line-derived neurotrophic factor (GDNF), neurturin, artemin and persephi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3138551638383aa78177d603af34265b
https://pubmed.ncbi.nlm.nih.gov/10484767

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Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease

Autor: T Atti, Patrick Edery, Marc Billaud, Arnold Munnich, Anna Pelet, O Geneste, Chappuis S, Stanislas Lyonnet, Gilbert M. Lenoir, A Pasini

Publikováno v: Scopus-Elsevier

Hirschsprung's disease (HSCR) is a common congenital malformation characterized by the absence of intramural ganglion cells of the hindgut. Recently, mutations of the RET tyrosine kinase receptor have been identified in 50 and 15-20% of familial and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab42a1e263f5160b952aee60fa28990
https://pubmed.ncbi.nlm.nih.gov/9502784

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Characterization of two nuclear proteins that interact with cytochrome P-450 1A2 mRNA. Regulation of RNA binding and possible role in the expression of the Cyp1a2 gene

Autor: F, Raffalli-Mathieu, O, Geneste, M A, Lang

Publikováno v: European journal of biochemistry. 245(1)

Regulation of the expression of the cytochrome P-450 la2 gene (cyp1a2) occurs mainly at the transcriptional level, but the molecular events involved in the induction process are partly unknown. Some reports have proposed involvement of post-transcrip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e7baccca1d3a9784868c5b6afc2a0a46
https://pubmed.ncbi.nlm.nih.gov/9128719

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Distinct biological properties of two RET isoforms activated by MEN 2A and MEN 2B mutations

Autor: I Schuffenecker, José Luis Urdiales, Marc Billaud, van Grunsven La, Mireille Rossel, Masahide Takahashi, Gilbert M. Lenoir, Rudkin Bb, Laurence Fournier, A Pasini, O Geneste, Chappuis S

Publikováno v: Oncogene. 14(3)

Germline mutations of the RET proto-oncogene, which codes for a receptor tyrosine kinase, cause multiple endocrine neoplasia type 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). MEN 2 mutations have been shown to result i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::658cb079e858d29711ca9b1dc0932903
https://pubmed.ncbi.nlm.nih.gov/9018112

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[Neural crest and multiple endocrinopathies]

Autor: A, Pasini, F M, Michiels, S, Chappuis-Flament, O, Geneste, M, Rossel, L, Fournier, J, Feunteun, G, Lenoir, I, Schuffenecker, M, Billaud

Publikováno v: Comptes rendus des seances de la Societe de biologie et de ses filiales. 190(5-6)

Multiple endocrine neoplasia type 2 (MEN 2) is a cancer syndrome which comprises three related disorders, MEN type 2A (MEN 2A), type 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC), MEN 2A is characterized by the association of MTC, a tum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d1fbac18193c9db344a595982b7394d4
https://pubmed.ncbi.nlm.nih.gov/9074721

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Analysis of DNA adducts in smokers' lung and urothelium by 32P-postlabelling: metabolic phenotype dependence and comparisons with other exposure markers

Autor: H, Bartsch, M, Castegnaro, A M, Camus, A, Schouft, O, Geneste, M, Rojas, K, Alexandrov

Publikováno v: IARC scientific publications. (124)

Carcinogen-DNA adduct levels in lung parenchyma (surgical specimens) and urothelial (exfoliated) cells of smokers, ex-smokers and non-smokers were investigated. DNA adducts were analysed by 32P-postlabelling and levels were compared with tissue-speci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::860dbd97ae33773a5fa980c09198d31a
https://pubmed.ncbi.nlm.nih.gov/8225503

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An improved fluorometric assay for dosimetry of benzo(a)pyrene diol-epoxide-DNA adducts in smokers' lung: comparisons with total bulky adducts and aryl hydrocarbon hydroxylase activity

Autor: K, Alexandrov, M, Rojas, O, Geneste, M, Castegnaro, A M, Camus, S, Petruzzelli, C, Giuntini, H, Bartsch

Publikováno v: Cancer research. 52(22)

An improved high-performance liquid chromatography/fluorometric assay has been established to quantitate the benzo(a)pyrene (BP) tetrols released after acid hydrolysis of lung DNA from lung cancer patients, so that the formation of benzo(a)pyrene dio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::05a8630e0899fd30324cd49a2b0cfefb
https://pubmed.ncbi.nlm.nih.gov/1423269

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