Search Results - "Lapouméroulie, C"

A novel mechanism for thalassaemia intermedia by Badens, C, Mattei, MG, Imbert, AM, Lapouméroulie, C, Martini, N, Michel, G, Lena-Russo, D

“…Thalassaemia intermedia is a moderate form of thalassaemia resulting from various genetic defects. We report an undescribed mechanism leading to this…”
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Clinical and molecular findings of chronic granulomatous disease in Oman: family studies by Al-Zadjali, S., Al-Tamemi, S., Elnour, I., AlKindi, S., Lapoumeroulie, C., Al-Maamari, S., Pathare, A., Dennison, D., Krishnamoorthy, R.

“…Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the…”
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Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections by Neonato, M G, Lu, C Y, Guilloud-Bataille, M, Lapouméroulie, C, Nabeel-Jassim, H, Dabit, D, Girot, R, Krishnamoorthy, R, Feingold, J, Besmond, C, Elion, J

“…Mannose-binding protein (MBP) is a serum lectin that participates in the innate immune response. MBP deficiency may constitute a risk factor in the development…”
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Cross-species characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene reveals multiple levels of regulation by Vuillaumier, S, Dixmeras, I, Messaï, H, Lapouméroulie, C, Lallemand, D, Gekas, J, Chehab, F F, Perret, C, Elion, J, Denamur, E

“…The cystic fibrosis transmembrane conductance regulator (CFTR) gene is highly conserved within vertebrate species. Its pattern of expression in vivo seems to…”
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Haemoglobin D-Ouled Rabah among the Mozabites: A Relevant Variant to Trace the Origin of Berber-Speaking Populations by Merghoub, T., Sanchez-Mazas, A., Tamouza, R., Lu, C.Y., Bouzid, K., Ardjoun, F.Z., Labie, D., Lapouméroulie, C., Elion, J.

“…We have studied haemoglobin (Hb) variants and blood groups (ABO, RH, and Kell) in 598 children from the Berber population of the Mzab. Hb D-Ouled Rabah,…”
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CFTR regions containing duodenum specific DNase I hypersensitive sites drive expression in intestinal crypt cells but not in fibroblasts by Dixméras, I, Lapouméroulie, C, Tallec, L P, Bens, M, Elion, J, Vandewalle, A, Denamur, E

“…We have investigated CFTR specific intestinal expression by transfection assays in mouse cultured fibroblasts and transimmortalized intestinal crypt m-ICc12…”
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Molecular basis of α-thalassemia in Sicily by FICHERA, M, SPALLETTA, A, FIORENZA, F, LOMBARDO, T, SCHILIRO, G, TAMOUZA, R, LAPOUMKROULIE, C, LABIE, D, RAGUSA, A

“…To evaluate the allelic frequency and genetic diversity of alpha-thalassemia defects in Sicily, both epidemiological and patient-oriented studies were carried…”
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Hydroxyurea downregulates endothelin-1 gene expression and upregulates ICAM-1 gene expression in cultured human endothelial cells by Brun, M, Bourdoulous, S, Couraud, P O, Elion, J, Krishnamoorthy, R, Lapoumeroulie, C

“…The clinical efficacy of oral hydroxyurea (HU) in adults and children with sickle cell anemia (SCA) cannot solely be explained by its ability to enhance fetal…”
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Mannose-binding lectin alleles in sub-Saharan Africans and relation with susceptibility to infections by MOMBO, L. E, LU, C. Y, OSSARI, S, BEDJABAGA, I, SICA, L, KRISHNAMOORTHY, R, LAPOUMEROULIE, C

“…Mannose-binding lectin (MBL) plays an important role in the early stages of primary infections and during the decay of maternal antibodies in infants. Various…”
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Genetic variations in human fetal globin gene microsatellites and their functional relevance by LAPOUMEROULIE, C, CASTIGLIA, L, RUBERTO, C, FICHERA, M, AMATA, S, LABIE, D, RAGUSA, A

“…Short tandem repeats are abundantly present within the genome. They are commonly used as polymorphic markers but their potential functional role is poorly…”
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Atypical beta(s) haplotypes are generated by diverse genetic mechanisms by Zago, M A, Silva, Jr, W A, Dalle, B, Gualandro, S, Hutz, M H, Lapoumeroulie, C, Tavella, M H, Araujo, A G, Krieger, J E, Elion, J, Krishnamoorthy, R

“…The majority of the chromosomes with the beta(S) gene have one of the five common haplotypes, designated as Benin, Bantu, Senegal, Cameroon, and Arab-Indian…”
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Hydroxyurée et drépanocytose : rôle des protéines d’adhérence by Odièvre, M.-H., Lapouméroulie, C., Elion, J.

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A novel sickle cell mutation by yet another origin in Africa : the Cameroon type by LAPOUMEROULIE, C, DUNDA, O, DUCROCQ, R, TRABUCHET, G, MONY-LOBE, M, BODO, J. M, CARNEVALE, P, LABIE, D, ELION, J, KRISHNAMOORTHY, R

“…The sickle cell mutation (beta s) arose as at least three independent events in Africa and once in Asia, being termed the Senegal, Benin, Bantu and Indian…”
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Homozygous deletional alpha + thalassaemia associated with unequal expression of the two remaining alpha 1 genes (alpha 1A and alpha 1Q) by Pagnier, J, Elion, J, Lapouméroulie, C, Vigneron, C, Labie, D

“…A Cambodian family presenting several haemoglobinopathies, Hb E, Hb Q and alpha + thalassaemia, has been investigated. DNA analysis showed that the…”
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DNA Sequence Variation in a Negative Control Region 5’ to the β-Globin Gene Correlates With the Phenotypic Expression of the βs Mutation by Elion, Jacques, Berg, Patricia E., Lapoumeroulie, Claudine, Trabuchet, Guy, Mittelman, Moshe, Krishnamoorthy, Rajagopal, Schechter, Alan N., Labie, Dominique

“…The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular hemoglobin S (Hb S) polymerization, which in turn is dependent…”
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Effect of hydroxyurea on adhesion proteins in sickle cell anemia by Odièvre, M-H, Lapouméroulie, C, Elion, J

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Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients by LABIE, D, PAGNIE, J, LAPOUMEROULIE, C, DUNDA-BELKOHDJA, O, CHARDIN, P, BELDJORD, C, WAJCMAN, H, FABRY, M. E, NAGEL, R. L

“…We have studied 42 homozygous beta-thalassemia patients from Algeria and 34 sickle cell anemia patients from Senegal and Benin, determining the relationship…”
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Anthropogenetical analysis of abnormal human alpha-globin gene cluster arrangement on chromosome 16 by Turcinov, D, Krishnamoorthy, R, Janićijević, B, Marković, I, Mustać, M, Lapoumeroulie, C, Chaventré, A, Rudan, P

“…An earlier study of human globin gene polymorphism in two Adriatic islands of Olib and Silba showed an abnormal arrangement of alpha-globin genes in two…”
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Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients by PERICHON, B, RAGUSA, A, LAPOUMEROULIE, C, ROMAND, A, MOI, P, IKUTA, T, LABIE, D, ELION, J, RAJAGOPAL KRISHNAMOORTHY

“…Sequence polymorphisms within the 5'HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of…”
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Atypical βs haplotypes are generated by diverse genetic mechanisms by Zago, M.A., Silva, W.A., Dalle, B., Gualandro, S., Hutz, M.H., Lapoumeroulie, C., Tavella, M.H., Araujo, A.G., Krieger, J.E., Elion, J., Krishnamoorthy, R.

“…The majority of the chromosomes with the βS gene have one of the five common haplotypes, designated as Benin, Bantu, Senegal, Cameroon, and Arab‐Indian…”
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