Search Results - "Merello, E"

Contribution of VANGL2 mutations to isolated neural tube defects by Kibar, Z, Salem, S, Bosoi, CM, Pauwels, E, De Marco, P, Merello, E, Bassuk, AG, Capra, V, Gros, P

“…Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Contribution of VANGL2 mutations to isolated neural tube defects…”
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Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations by Merello, E., Mascelli, S., Raso, A., Piatelli, G., Consales, A., Cama, A., Kibar, Z., Capra, V., Marco, Patrizia De

“…Background Neural Tube Defects (NTD) are a common class of birth defects that occur in approximately 1 in 1000 live births. Both genetic and nongenetic factors…”
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Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population by De Marco, Patrizia, Calevo, Maria Grazia, Moroni, Anna, Arata, Lorenza, Merello, Elisa, Finnell, Richard H, Zhu, Huiping, Andreussi, Luciano, Cama, Armando, Capra, Valeria

“…Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many…”
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Induction of macrophage glutamine: fructose-6-phosphate amidotransferase expression by hypoxia and by picolinic acid by Manzari, B, Kudlow, J E, Fardin, P, Merello, E, Ottaviano, C, Puppo, M, Eva, A, Varesio, L

“…We studied the expression of glutamine: fructose-6-phosphate amidotransferase (GFAT), the rate limiting enzyme in the hexosamine biosynthetic pathway…”
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Successful isolation and long-term establishment of a cell line with stem cell-like features from an anaplastic medulloblastoma by Raso, A., Negri, F., Gregorio, A., Nozza, P., Mascelli, S., De Marco, P., Merello, E., Milanaccio, C., Ravegnani, M., Cama, A., Garrè, M. L., Capra, V.

“…Aims: Herein we report on the successful isolation and establishment of a novel, long‐term, primary, neurosphere‐like cell line called 1603‐MED from a…”
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Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk by De Marco, Patrizia, Merello, Elisa, Calevo, Maria Grazia, Mascelli, Samantha, Raso, Alessandro, Cama, Armando, Capra, Valeria

“…Genetic variants of enzymes involved in the folate pathway might be expected to have an impact on neural tube defect (NTD) risk. Given its key role in folate…”
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Mutations in VANGL1 Associated with Neural-Tube Defects by Kibar, Zoha, Torban, Elena, McDearmid, Jonathan R, Reynolds, Annie, Berghout, Joanne, Mathieu, Melissa, Kirillova, Irena, De Marco, Patrizia, Merello, Elisa, Hayes, Julie M, Wallingford, John B, Drapeau, Pierre, Capra, Valeria, Gros, Philippe

“…Despite the frequency of neural-tube defects, little is known about their cause. In this study, the authors implicate the gene VANGL1 in three children with…”
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Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans by Seo, Jung Hwa, Zilber, Yulia, Babayeva, Sima, Liu, JiaJia, Kyriakopoulos, Paulina, De Marco, Patrizia, Merello, Elisa, Capra, Valeria, Gros, Philippe, Torban, Elena

“…Neural tube defects (NTDs) are a heterogeneous group of common severe congenital anomalies which affect 1-2 infants per 1000 births. Most genetic and/or…”
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Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans by Seo, Jung Hwa, Zilber, Yulia, Babayeva, Sima, Liu, JiaJia, Kyriakopoulos, Paulina, De Marco, Patrizia, Merello, Elisa, Capra, Valeria, Gros, Philippe, Torban, Elena

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Polymorphisms in genes involved in folate metabolism as risk factors for NTDs by De Marco, P, Calevo, M G, Moroni, A, Arata, L, Merello, E, Cama, A, Finnell, R H, Andreussi, L, Capra, V

“…Moderate hyperhomocysteinemia in pregnant women has been associated with an increased risk of neural tube defects (NTDs). Periconceptional supplementation with…”
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Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway by Allache, R., Lachance, S., Guyot, M. C., De Marco, P., Merello, E., Justice, M. J., Capra, V., Kibar, Z.

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Hypoxia transcriptionally induces macrophage-inflammatory protein-3α/CCL-20 in primary human mononuclear phagocytes through nuclear factor (NF)-κB by Battaglia, Florinda, Delfino, Silvana, Merello, Elisa, Puppo, Maura, Piva, Roberto, Varesio, Luigi, Bosco, Maria Carla

“…Hypoxia, a condition of low oxygen tension, occurring in many pathological processes, modifies the mononuclear phagocyte transcriptional profile. Here, we…”
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Reduced folate carrier polymorphism (80A→G) and neural tube defects by DE MARCO, Patrizia, GRAZIA CALEVO, Maria, MORONI, Anna, MERELLO, Elisa, RASO, Alessandro, FINNELL, Richard H, HUIPING ZHU, ANDREUSSI, Luciano, CAMA, Armando, CAPRA, Valeria

“…Transport of folates in mammalian cells occurs by a carrier-mediated mechanism. The human folate carrier (RFC-1) gene has been isolated and characterized…”
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Methylenetetrahydrofolate-dehydrogenase 1958G→A polymorphism is a genetic determinant of NTD risk for Italian mothers by De Marco, P, Calevo, M Grazia, Merello, E, Moroni, A, Raso, A, Parodi, S, Cama, A, Capra, V

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HLXB9 homeobox gene and caudal regression syndrome by Merello, Elisa, De Marco, Patrizia, Mascelli, Samantha, Raso, Alessandro, Calevo, Maria Grazia, Torre, Michele, Cama, Armando, Lerone, Margherita, Martucciello, Giuseppe, Capra, Valeria

“…BACKGROUND Caudal regression syndrome (CRS) is a congenital heterogeneous constellation of caudal anomalies that include varying degrees of agenesis of the…”
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Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome by De Marco, Patrizia, Merello, Elisa, Mascelli, Samantha, Raso, Alessandro, Santamaria, Andrea, Ottaviano, Catherine, Calevo, Maria Grazia, Cama, Armando, Capra, Valeria

“…BACKGROUND The retinoic acid (RA)–catabolizing enzyme Cyp26a1 plays an important role in protecting tailbud tissues from inappropriate exposure to RA…”
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Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects by Merello, Elisa, De Marco, Patrizia, Moroni, Anna, Raso, Alessandro, Calevo, Maria Grazia, Consalez, G. Giacomo, Cama, Armando, Capra, Valeria

“…BACKGROUND Neural tube defects (NTDs) are complex embryological malformations, affecting 1 in 1,000 live births. Antisense studies have implicated murine Mab21…”
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Folate pathway gene alterations in patients with neural tube defects by De Marco, Patrizia, Moroni, Anna, Merello, Elisa, de Franchis, Raffaella, Andreussi, Luciano, Finnell, Richard H., Barber, Robert C., Cama, Armando, Capra, Valeria

“…Periconceptional folate supplementation reduces the recurrence and occurrence risk of neural tube defects (NTD) by as much as 70%, yet the protective mechanism…”
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