Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Colette Valentin"'
Autor:
Jean Kister, Colette Valentin, Henri Wajcman, Frédéric Galactéros, Michel Cohen-Solal, Claude Préhu, Danielle Promé, Dora Bachir, Claude Poyart, Josiane Bardakdjian-Michau
Publikováno v:
British Journal of Haematology. 103:950-956
A Guinean woman, heterozygous for haemoglobin (Hb) S, was studied because of episodes of marked anaemia, repeated typical metaphyseal painful crises and haemosiderosis. Her sickling syndrome resulted from the association of Hb S trait with a severe p
Autor:
Karen Brødum-Nielsen, Constantin T. Craescu, Henrik Birgens, Michel Cohen-Solal, Colette Valentin
Publikováno v:
Human Mutation. 12:280-287
Phosphoglycerate kinase (PGK) is a X-linked enzyme that plays a key role in the glycolytic pathway. Twelve different variants have already been reported. We describe a new PGK variant, PGK Herlev (Asp 285-->Val), in a 69-year-old Danish patient with
Autor:
Jean Rosa, Raymonde Rosa, Frédéric Galactéros, Virginie Joulin, Michel Cohen-Solal, Valérie Lemarchandel, Colette Valentin
Publikováno v:
Scopus-Elsevier
Erythrocyte bisphosphoglycerate mutase (BPGM) deficiency is a rare disease associated with a decrease in 2,3-diphosphoglycerate concentration. A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown t
Autor:
Raymonde Rosa, Yves Blouquit, M.C. Garel, Michel Cohen-Solal, Philippe Leboulch, Judit Castella-Escola, Colette Valentin, Fernando Climent-Romeo, David M. Ojcius, Virginie Joulin
Publikováno v:
Gene. 91:225-232
The human muscle-specific phosphoglycerate mutase encoding gene (PGAM-M) has been cloned from a genomic cosmid library and sequenced. The sequence corresponding to the coding region was evaluated and revised by sequencing of the protein itself, fully
Autor:
Colette Valentin, Susan R. Hollán, Marget Horányi, Michel Cohen-Solal, Marianne Inselt-Kovács, Lynne E. Maquat
Publikováno v:
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie. 323(3)
We describe here a new stop mutation at triosephosphate isomerase (TPI) position 145 in a Hungarian family for which the first mutation (240 Phe → Leu) was published earlier. The entire genomic TPI locus (exons, introns and promoter) was sequenced
Publikováno v:
British journal of haematology. 92(4)
A survey of PK-deficient patients by molecular biology techniques has been performed in France in 26 unrelated families, in which at least one mutation has been characterized. The patients, of European or North African origin, exhibited approximative
Autor:
Marie Geneviève Mattei, Colette Valentin, Judit Castella-Escola, Michel Cohen-Solal, David M. Ojcius, E. Passage
Publikováno v:
Human Genetics. 84
A 2.3-kb-long probe derived from the 5' flanking region, the first exon and part of the first intron of the human muscle-specific phosphoglycerate mutase gene (PGAM-M) (EC 5.4.2.1) was used to map the gene by "in situ" chromosomal hybridization. The
Publikováno v:
Human Genetics. 38:209-215
A new case of a defect in red cell pyrimidine 5'-nucleotide (P5N) activity was found in a large family from Guadeloupe in the West Indies. The propositus presented a characteristic hemolytic anemia with red cell basophilic stippling, an increased GSH
Autor:
Jean Rosa, Anne-Marie Duprat, Colette Valentin, Paul-Henri Romeo, Michelle Flavin, Michel Cohen-Solal
Publikováno v:
Gene. 42:159-168
A cDNA library of erythrocyte mRNAs was established from immature red blood cells of the adult amphibian, Pleurodeles waltlii (urodele; salamander). The cDNA clones corresponding to the four adult globin chains were first identified and characterized
Autor:
Jean-Philippe Rosa, M.C. Garel, M.L. North, Michel Cohen-Solal, Joëlle Thillet, Yves Blouquit, Colette Valentin, K. Albrecht-Ellmer
Publikováno v:
FEBS Letters. 90:286-288