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11 results on '"Niceta M"'

1. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Author

Niceta, M., primary, Margiotti, K., additional, Digilio, M.C., additional, Guida, V., additional, Bruselles, A., additional, Pizzi, S., additional, Ferraris, A., additional, Memo, L., additional, Laforgia, N., additional, Dentici, M.L., additional, Consoli, F., additional, Torrente, I., additional, Ruiz-Perez, V.L., additional, Dallapiccola, B., additional, Marino, B., additional, De Luca, A., additional, and Tartaglia, M., additional

Published
2018
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2. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Author

Torraco, A, Bianchi, M, Verrigni, D, Gelmetti, V, Riley, L, Niceta, M, Martinelli, D, Montanari, A, Guo, Y, Rizza, T, Diodato, D, Di Nottia, M, Lucarelli, B, Sorrentino, F, Piemonte, F, Francisci, S, Tartaglia, M, Valente, EM, Dionisi-Vici, C, Christodoulou, J, Bertini, E, Carrozzo, R, Torraco, A, Bianchi, M, Verrigni, D, Gelmetti, V, Riley, L, Niceta, M, Martinelli, D, Montanari, A, Guo, Y, Rizza, T, Diodato, D, Di Nottia, M, Lucarelli, B, Sorrentino, F, Piemonte, F, Francisci, S, Tartaglia, M, Valente, EM, Dionisi-Vici, C, Christodoulou, J, Bertini, E, and Carrozzo, R

Abstract

NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the "supernumerary" group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in the X-linked nuclear-encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a de novo mutation in NDUFB11 and displaying early-onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.

Published
2017

3. Microcephaly, intractable seizures and developmental delay caused by biallelic variants inTBCD: further delineation of a new chaperone-mediated tubulinopathy

Author

Pode-Shakked, B., primary, Barash, H., additional, Ziv, L., additional, Gripp, K.W., additional, Flex, E., additional, Barel, O., additional, Carvalho, K.S., additional, Scavina, M., additional, Chillemi, G., additional, Niceta, M., additional, Eyal, E., additional, Kol, N., additional, Ben-Zeev, B., additional, Bar-Yosef, O., additional, Marek-Yagel, D., additional, Bertini, E., additional, Duker, A.L., additional, Anikster, Y., additional, Tartaglia, M., additional, and Raas-Rothschild, A., additional

Published
2016
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4. DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

Author

Di Nottia, M., primary, Masciullo, M., additional, Verrigni, D., additional, Petrillo, S., additional, Modoni, A., additional, Rizzo, V., additional, Di Giuda, D., additional, Rizza, T., additional, Niceta, M., additional, Torraco, A., additional, Bianchi, M., additional, Santoro, M., additional, Bentivoglio, A.R., additional, Bertini, E., additional, Piemonte, F., additional, Carrozzo, R., additional, and Silvestri, G., additional

Published
2016
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5. A novel mutation inNDUFB11unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Author

Torraco, A., primary, Bianchi, M., additional, Verrigni, D., additional, Gelmetti, V., additional, Riley, L., additional, Niceta, M., additional, Martinelli, D., additional, Montanari, A., additional, Guo, Y., additional, Rizza, T., additional, Diodato, D., additional, Di Nottia, M., additional, Lucarelli, B., additional, Sorrentino, F., additional, Piemonte, F., additional, Francisci, S., additional, Tartaglia, M., additional, Valente, E.M., additional, Dionisi‐Vici, C., additional, Christodoulou, J., additional, Bertini, E., additional, and Carrozzo, R., additional

Published
2016
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8. Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

Author

Marcello Niceta, Vincenzo Antona, Mario Giuffrè, Carmelo Fabiano, P Sammarco, Giovanni Corsello, Maria Piccione, NICETA M, FABIANO C, SAMMARCO P, PICCIONE M, ANTONA V, GIUFFRE M, and CORSELLO G

Subjects
Genotype, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Nonsense mutation, Biology, Gene mutation, Connexins, neonate, deafness, genetic, Exon, Neonatal Screening, Gene Frequency, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Testing, Sicily, Gene, Genetics (clinical), Chromosome 13, Splice site mutation, Infant, Newborn, Genetic Variation, Stop codon, Connexin 26, Phenotype, Mutation, medicine.symptom
Abstract

Deafness is caused by a variety of facts, genetic and environmental. Regarding the acquired causes, deafness can be the consequence of prenatal infections, acoustic or cerebral trauma, and the use of ototoxic drugs. Deafness can be the only manifestation (nonsyndromic forms) or it may occur together with other phenotypic findings (syndromic forms). The majority of nonsyndromicdeafness has a genetic basis [Van Camp et al., 1997]. In recent years, deafness and hearing loss have assumed a clinical importance in the study of congenital disorders [Morton et al., 1991]. The clinical interest for hearing loss is supported by the social impact that this disorder has; if not treated, delays in the development of language and learning skills will occur [Yoshinaga-Itano et al., 1998]. In the absence of newborn screening, hearing loss might not be noticed by parents, teachers or paediatricians until the child begins to have difficulties at speaking and learning, sometimes as late as age 2 or 3 years. In genetic nonsyndromic hearing loss (NSHL) the inheritance pattern is autosomal recessive (80%), autosomal dominant (17%), X-linked (2–3%), and mitochondrial (

Published
2007
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9. Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia

Author

Carmelo Fabiano, Marcello Niceta, Aurelio Maggio, Alice Pecoraro, Paolo Rigano, P Sammarco, Fannj Pojero, Rigano, P, Fabiano, C, Pojero, F, Niceta, M, Pecoraro, A, Maggio, A, and Sammarco, P

Subjects
chemistry.chemical_classification, Hemolytic anemia, haemolytic anaemia, new DNA mutation, Enzyme defect, Hematology, hereditary genetic defect, Biology, medicine.disease, Microbiology, chemistry.chemical_compound, Settore MED/38 - Pediatria Generale E Specialistica, Enzyme, Biochemistry, chemistry, enzyme defect, medicine, Chronic non-spherocytic haemolytic anaemia, Glucose-6-phosphate dehydrogenase, Spherocytic anemia, G6PD
Published
2010
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11. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Author

Dionisi-Vici C, Shteyer E, Niceta M, Rizzo C, Pode-Shakked B, Chillemi G, Bruselles A, Semeraro M, Barel O, Eyal E, Kol N, Haberman Y, Lahad A, Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, and Anikster Y

Subjects
Adolescent, Adult, Child, Child, Preschool, Hepatomegaly genetics, Humans, Hypertriglyceridemia genetics, Liver pathology, Liver Cirrhosis genetics, Phenotype, Glycerolphosphate Dehydrogenase deficiency, Glycerolphosphate Dehydrogenase genetics, Mutation genetics
Abstract

Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the GPD1 gene, which encodes the cytosolic isoform of glycerol-3-phosphate dehydrogenase. Here we report on four patients from three unrelated families of diverse ethnic origins, who presented with hepatomegaly, liver steatosis, hypertriglyceridemia, with or without fasting ketotic hypoglycemia. Whole exome sequencing revealed the affected individuals to harbor deleterious biallelic mutations in the GPD1 gene, including the previously undescribed c.806G > A (p.Arg269Gln) and c.640T > C (p.Cys214Arg) mutations. The clinical features in three of our patients showed several differences compared to the original reports. One subject presented with recurrent episodes of fasting hypoglycemia along with hepatomegaly, hypetriglyceridemia, and elevated liver enzymes; the second showed a severe liver disease, with intrahepatic cholestasis associated with kidney involvement; finally, the third presented persistent hypertriglyceridemia at the age of 30 years. These findings expand the current knowledge of this rare disorder, both with regard to the phenotype and molecular basis. The enlarged phenotypic spectrum of glycerol-3-phosphate dehydrogenase 1 deficiency can mimic other inborn errors of metabolism with liver involvement and should alert clinicians to recognize this entity by considering GPD1 mutations in appropriate clinical settings.

Published
2016
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