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2. Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

Author

Villa, R., Fergnani, V.G.C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P.F., Accogli, A., Madia, F., Tassano, E., Scala, M., Capra, V., Srour, M., Spaccini, L., Righini, A., Greco, D., Castiglia, L., Romano, C., and Bedeschi, M.F.

Published
2020
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3. CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Author

Amenta, Simona, Marangi, Giuseppe, Orteschi, D., Frangella, Silvia, Gurrieri, Fiorella, Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, Massimiano, Carrella, D., Vitiello, G., Parenti, Gian Paolo, Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, Daniela, Romano, Maria Concetta, Tummolo, Aida Angela, De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, Federica, Capra, V., Nigro, V., and Zollino, Marcella

Subjects
CHAMP1, Settore MED/03 - GENETICA MEDICA
Published
2023

4. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Author

Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S., Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi, and Nagata, Koh-Ichi

Subjects
brain development, Settore MED/03 - GENETICA MEDICA, Medical and Health Sciences, Telethon Undiagnosed Diseases Program, Mice, Neurodevelopmental Disorder, Medicine and Health Sciences, Animals, Humans, 2.1 Biological and endogenous factors, Aetiology, Neurons, Pediatric, neuronal migration, Neurology & Neurosurgery, Animal, axon guidance, Psychology and Cognitive Sciences, p21-Activated Kinase, Neurosciences, Biology and Life Sciences, Undiagnosed Diseases Network, Neuron, rac GTP-Binding Proteins, Brain Disorders, RAC3, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, small GTPase, Neurological, Congenital Structural Anomalies, Neurology (clinical), Human
Abstract

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G > C p.G12R, c.179G > A p.G60D, c.186_188delGGA p.E62del, c.187G > A p.D63N, c.191A > G p.Y64C and c.348G > C p.K116N. We then examined the pathophysiological significance of these novel and previously reported pathogenic variants p.P29L, p.P34R, p.A59G, p.Q61L and p.E62K. In vitro analyses revealed that all tested RAC3 variants were biochemically and biologically active to variable extent, and exhibited a spectrum of different affinities to downstream effectors including p21-activated kinase 1. We then focused on the four variants p.Q61L, p.E62del, p.D63N and p.Y64C in the Switch II region, which is essential for the biochemical activity of small GTPases and also a variation hot spot common to other Rho family genes, RAC1 and CDC42. Acute expression of the four variants in embryonic mouse brain using in utero electroporation caused defects in cortical neuron morphology and migration ending up with cluster formation during corticogenesis. Notably, defective migration by p.E62del, p.D63N and p.Y64C were rescued by a dominant negative version of p21-activated kinase 1. Our results indicate that RAC3 variants result in morphological and functional defects in cortical neurons during brain development through variant-specific mechanisms, eventually leading to heterogeneous neurodevelopmental phenotypes. Scala et al. identify six de novo variants in RAC3, which encodes a small GTPase, in 10 unrelated subjects with neurodevelopmental phenotypes. In vivo and in vitro analyses in mice reveal that RAC3 variants cause morpho-functional defects in cortical neurons through variant-specific mechanisms, disrupting corticogenesis.

Published
2022

6. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

Author

Kushary, S.T., Revah-Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti-Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C.R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N.C., Mansukhani, M., McBrian, D., McEntagart, M., Pacio-Miguez, M., Palomares-Bralo, M., Pottinger, C., Ruivenkamp, C.A.L., Sacco, O., Santen, G.W.E., Santos-Simarro, F., Scala, M., Short, J., Sorensen, K.P., Woods, C.G., Yeboa, K.A., DDD Study, TUDP Consortium, Kushary, S. T., Revah-Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C. R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N. C., Mansukhani, M., Mcbrian, D., Mcentagart, M., Pacio-Miguez, M., Palomares-Bralo, M., Pottinger, C., Ruivenkamp, C. A. L., Sacco, O., Santen, G. W. E., Santos-Simarro, F., Scala, M., Short, J., Sorensen, K. P., Woods, C. G., and Anyane Yeboa, K.

Subjects
Male, Genotype, Mutation, Missense, genotype-phenotype correlation, Article, Congenital Abnormalities, whole exome sequencing, Minor Histocompatibility Antigens, Neuroimaging, Seizures, Intellectual Disability, Intellectual disability, Exome Sequencing, Genetics, Medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, business.industry, Brain, genotype–phenotype correlation, medicine.disease, SON, DNA-Binding Proteins, Phenotype, Variable dysmorphic features, Female, business, multisystemic disorder
Abstract

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic features, and various congenital anomalies. The wide application and increasing accessibility of whole exome sequencing (WES) has helped to identify new cases of ZTTK syndrome over the last few years. To date, there have been approximately 45 cases reported in the literature. Here, we describe 15 additional individuals with variants in the SON gene, including those with missense variants bringing the total number of known cases to 60. We have reviewed the clinical and molecular data of these new cases and all previously reported cases to further delineate the most common as well as emerging clinical findings related to this syndrome. Furthermore, we aim to delineate any genotype–phenotype correlations specifically for a recurring pathogenic four base pair deletion (c.5753_5756del) along with discussing the impact of missense variants seen in the SON gene.

Published
2021

10. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Author

Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, VERRICO, ANTONIO, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A, TUDP consortium, Nigro V, Capra V., Scala, M, Torella, A, Severino, M, Morana, G, Castello, R, Accogli, A, Verrico, Antonio, Vari, M, Cappuccio, G, Pinelli, M, Vitiello, G, Terrone, G, D'Amico, A, Tudp, Consortium, Nigro, V, Capra, V., Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., Nigro, V., and Capra, V

Subjects
Male, Pathology, medicine.medical_specialty, Mutation, Missense, Brain tumor, Trigonocephaly, Biology, Nervous System Malformations, Article, Germline, DEAD-box RNA Helicases, 03 medical and health sciences, Dysgenesis, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Medulloblastoma, 0303 health sciences, Pilocytic astrocytoma, Brain Neoplasms, 030305 genetics & heredity, medicine.disease, Child, Preschool, Female
Abstract

De novo DDX3X variants account for 1-3% of syndromic intellectual disability (ID) in females and have been occasionally reported in males. Furthermore, somatic DDX3X variants occur in several aggressive cancers, including medulloblastoma. We report three unrelated females with severe ID, dysmorphic features, and a common brain malformative pattern characterized by malformations of cortical development, callosal dysgenesis, basal ganglia anomalies, and midbrain-hindbrain malformations. A pilocytic astrocytoma was incidentally diagnosed in Patient 1 and trigonocephaly was found in Patient 2. With the use of family based whole exome sequencing (WES), we identified three distinct de novo variants in DDX3X. These findings expand the phenotypic spectrum of DDX3X-related disorders, demonstrating unique neuroradiological features resembling those of the tubulinopathies, and support a role for DDX3X in neuronal development. Our observations further suggest a possible link between germline DDX3X variants and cancer development.

Published
2019

12. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

Author

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., and Thauvin-Robinet, C.

Published
2015
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13. Impaired thromboxane receptor dimerization reduces signaling efficiency: A potential mechanism for reduced platelet function in vivo

Author

Capra, V, Accomazzo, M, Rovati, G, Busnelli, M, Gaussem, P, Nisar, S, Mundell, S., MAURI, MARIO, GUZZI, FRANCESCA, PARENTI, MARCO DOMENICO, Capra, V, Accomazzo, M, Rovati, G, Mauri, M, Guzzi, F, Parenti, M, Busnelli, M, Gaussem, P, Nisar, S, and Mundell, S

Subjects
Platelets, Blood Platelets, 0301 basic medicine, Receptors, Thromboxane, G protein coupled receptor, Signal transduction, Ligands, Biochemistry, G protein coupled receptors, Thromboxane receptor, Thromboxane A2, 03 medical and health sciences, chemistry.chemical_compound, Mediator, Humans, Receptor, G protein-coupled receptor, Pharmacology, Dose-Response Relationship, Drug, 030102 biochemistry & molecular biology, Platelet, Transfection, Eicosanoid, Receptor dimer, Cell biology, Thromboxane A, Transmembrane domain, HEK293 Cells, 030104 developmental biology, chemistry, Mutation, Eicosanoids, Dimerization, Signal Transduction
Abstract

Thromboxane A2 is a potent mediator of inflammation and platelet aggregation exerting its effects through the activation of a G protein-coupled receptor (GPCR), termed TP. Although the existence of dimers/oligomers in Class A GPCRs is widely accepted, their functional significance still remains controversial. Recently, we have shown that TPα and TPβ homo-/hetero-dimers interact through an interface of residues in transmembrane domain 1 (TM1) whose disruption impairs dimer formation. Here, biochemical and pharmacological characterization of this dimer deficient mutant (DDM) in living cells indicates a significant impairment in its response to agonists. Interestingly, two single loss-of-function TPα variants, namely W29C and N42S recently identified in two heterozygous patients affected by bleeding disorders, match some of the residues mutated in our DDM. These two naturally occurring variants display a reduced potency to TP agonists and are characterized by impaired dimer formation in transfected HEK-293T cells. These findings provide proofs that lack of homo-dimer formation is a crucial process for reduced TPα function in vivo, and might represent one molecular mechanism through which platelet TPα receptor dysfunction affects the patient(s) carrying these mutations.

Published
2017

16. Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Author

Ciaccio C., Castello R., Esposito S., Pinelli M., Nigro V., Casari G., Chiapparini L., Pantaleoni C., Torella A., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Capra V., Leuzzi V., Selicorni A., Maitz S., Brunetti-Pierri N., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., D'Arrigo S., Ciaccio, C., Castello, R., Esposito, S., Pinelli, M., Nigro, V., Casari, G., Chiapparini, L., Pantaleoni, C., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., D'Arrigo, S., Ciaccio, Claudia, Castello, Raffaele, Esposito, Silvia, Pinelli, Michele, Nigro, Vincenzo, Casari, Giorgio, Chiapparini, Luisa, Pantaleoni, Chiara, and D'Arrigo, Stefano

Subjects
Drug Resistant Epilepsy, medicine.medical_specialty, Pediatrics, Neurology, Ataxia, Adolescent, SCAR23, Disease, Whole Exome Sequencing, 050105 experimental psychology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, Humans, Spinocerebellar Ataxias, Medicine, 0501 psychology and cognitive sciences, TDP2, Phosphoric Diester Hydrolases, business.industry, 05 social sciences, Pediatric ataxia, medicine.disease, DNA-Binding Proteins, Mutation, Cerebellar atrophy, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.

Published
2019

20. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Author

Salpietro, V. Dixon, C.L. Guo, H. Bello, O.D. Vandrovcova, J. Efthymiou, S. Maroofian, R. Heimer, G. Burglen, L. Valence, S. Torti, E. Hacke, M. Rankin, J. Tariq, H. Colin, E. Procaccio, V. Striano, P. Mankad, K. Lieb, A. Chen, S. Pisani, L. Bettencourt, C. Männikkö, R. Manole, A. Brusco, A. Grosso, E. Ferrero, G.B. Armstrong-Moron, J. Gueden, S. Bar-Yosef, O. Tzadok, M. Monaghan, K.G. Santiago-Sim, T. Person, R.E. Cho, M.T. Willaert, R. Yoo, Y. Chae, J.-H. Quan, Y. Wu, H. Wang, T. Bernier, R.A. Xia, K. Blesson, A. Jain, M. Motazacker, M.M. Jaeger, B. Schneider, A.L. Boysen, K. Muir, A.M. Myers, C.T. Gavrilova, R.H. Gunderson, L. Schultz-Rogers, L. Klee, E.W. Dyment, D. Osmond, M. Parellada, M. Llorente, C. Gonzalez-Peñas, J. Carracedo, A. Van Haeringen, A. Ruivenkamp, C. Nava, C. Heron, D. Nardello, R. Iacomino, M. Minetti, C. Skabar, A. Fabretto, A. Hanna, M.G. Bugiardini, E. Hostettler, I. O’Callaghan, B. Khan, A. Cortese, A. O’Connor, E. Yau, W.Y. Bourinaris, T. Kaiyrzhanov, R. Chelban, V. Madej, M. Diana, M.C. Vari, M.S. Pedemonte, M. Bruno, C. Balagura, G. Scala, M. Fiorillo, C. Nobili, L. Malintan, N.T. Zanetti, M.N. Krishnakumar, S.S. Lignani, G. Jepson, J.E.C. Broda, P. Baldassari, S. Rossi, P. Fruscione, F. Madia, F. Traverso, M. De-Marco, P. Pérez-Dueñas, B. Munell, F. Kriouile, Y. El-Khorassani, M. Karashova, B. Avdjieva, D. Kathom, H. Tincheva, R. Van-Maldergem, L. Nachbauer, W. Boesch, S. Gagliano, A. Amadori, E. Goraya, J.S. Sultan, T. Kirmani, S. Ibrahim, S. Jan, F. Mine, J. Banu, S. Veggiotti, P. Zuccotti, G.V. Ferrari, M.D. Van Den Maagdenberg, A.M.J. Verrotti, A. Marseglia, G.L. Savasta, S. Soler, M.A. Scuderi, C. Borgione, E. Chimenz, R. Gitto, E. Dipasquale, V. Sallemi, A. Fusco, M. Cuppari, C. Cutrupi, M.C. Ruggieri, M. Cama, A. Capra, V. Mencacci, N.E. Boles, R. Gupta, N. Kabra, M. Papacostas, S. Zamba-Papanicolaou, E. Dardiotis, E. Maqbool, S. Rana, N. Atawneh, O. Lim, S.Y. Shaikh, F. Koutsis, G. Breza, M. Coviello, D.A. Dauvilliers, Y.A. AlKhawaja, I. AlKhawaja, M. Al-Mutairi, F. Stojkovic, T. Ferrucci, V. Zollo, M. Alkuraya, F.S. Kinali, M. Sherifa, H. Benrhouma, H. Turki, I.B.Y. Tazir, M. Obeid, M. Bakhtadze, S. Saadi, N.W. Zaki, M.S. Triki, C.C. Benfenati, F. Gustincich, S. Kara, M. Belcastro, V. Specchio, N. Capovilla, G. Karimiani, E.G. Salih, A.M. Okubadejo, N.U. Ojo, O.O. Oshinaike, O.O. Oguntunde, O. Wahab, K. Bello, A.H. Abubakar, S. Obiabo, Y. Nwazor, E. Ekenze, O. Williams, U. Iyagba, A. Taiwo, L. Komolafe, M. Senkevich, K. Shashkin, C. Zharkynbekova, N. Koneyev, K. Manizha, G. Isrofilov, M. Guliyeva, U. Salayev, K. Khachatryan, S. Rossi, S. Silvestri, G. Haridy, N. Ramenghi, L.A. Xiromerisiou, G. David, E. Aguennouz, M. Fidani, L. Spanaki, C. Tucci, A. Raspall-Chaure, M. Chez, M. Tsai, A. Fassi, E. Shinawi, M. Constantino, J.N. De Zorzi, R. Fortuna, S. Kok, F. Keren, B. Bonneau, D. Choi, M. Benzeev, B. Zara, F. Mefford, H.C. Scheffer, I.E. Clayton-Smith, J. Macaya, A. Rothman, J.E. Eichler, E.E. Kullmann, D.M. Houlden, H. SYNAPS Study Group

Abstract

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission. © 2019, The Author(s).

Published
2019

29. HOX-B1 allelic variants in hindbrain malformations

Author

Capra, V., Moroni, A., De Marco, P., Merello, E., Arata, L., Crippa, M.., Blasi, F., and Cama, A.

Subjects
Human genetics -- Research, Brain diseases -- Genetic aspects, Genetic disorders -- Research, Arnold-Chiari deformity -- Genetic aspects, Biological sciences
Published
2001

35. Specific gene expression signatures of low-grade gliomas (LGG)

Author

Mascelli, S., Raso, A., Nozza, P., Pignatelli, S., Biassoni, R., Barla, Annalisa, Mosci, Sofia, Rosasco, Lorenzo, Verri, Alessandro, Wittenberg, G., Noy, K., Mircean, C., Fasulo, D., Morana, G., Milanaccio, C., Cama, A., Capra, V., and Garre, M. L.

Published
2010

39. Analisi genomica del medulloblastoma in pazienti pediatrici

Author

Coco, S, Pezzolo, A, Capra, V, Raso, A, Nozza, P, Longo, L, Cama, A, Gambini, C, Pistoia, V, Sandri, A, Basso, Me, Aschero, Simona, Forni, M, Madon, Enrico, Garrè, Ml, Cinalli, G, Andolfo, I, Zollo, M, Iolascon, A, and Tonini, Gp

Subjects
medulloblastoma, pazienti pediatrici
Published
2007

41. Krit-1 Mutations in 100 Patients with Cerebral Cavernomas

Author

Forni, M, Peretta, P, Marini, V, D'Angelo, R, Ferrera, L, Dorcaratto, A, Sidoti, A, Retta, Saverio Francesco, Viale, G, Alafaci, C, Squitieri, F, Capra, V, Origone, P, Mareni, C, Amato, A, and Garre', C.

Published
2005

43. Krit-1 mutations in 100 patients with cerebral cavernomas

Author

Forni, M., Peretta, P., Marini, V., D'Angelo, Rosalia, Ferrera, L., Dorcaratto, A., Sidoti, Antonina, Retta, F., Viale, G., Alafaci, Concetta, Squitieri, F., Capra, V., Origone, P., Mareni, C., and Amato, Aldo

Published
2005

47. Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Author

Piard, J., primary, Aral, B., additional, Vabres, P., additional, Holder‐Espinasse, M., additional, Mégarbané, A., additional, Gauthier, S., additional, Capra, V., additional, Pierquin, G., additional, Callier, P., additional, Baumann, C., additional, Pasquier, L., additional, Baujat, G., additional, Martorell, L., additional, Rodriguez, A., additional, Brady, A. F., additional, Boralevi, F., additional, González‐Enseñat, M. A., additional, Rio, M., additional, Bodemer, C., additional, Philip, N., additional, Cordier, M.‐P., additional, Goldenberg, A., additional, Demeer, B., additional, Wright, M., additional, Blair, E., additional, Puzenat, E., additional, Parent, P., additional, Sznajer, Y., additional, Francannet, C., additional, DiDonato, N., additional, Boute, O., additional, Barlogis, V., additional, Moldovan, O., additional, Bessis, D., additional, Coubes, C., additional, Tardieu, M., additional, Cormier‐Daire, V., additional, Sousa, A. B., additional, Franques, J., additional, Toutain, A., additional, Tajir, M., additional, Elalaoui, S. C., additional, Geneviève, D., additional, Thevenon, J., additional, Courcet, J.‐B., additional, Rivière, J.‐B., additional, Collet, C., additional, Gigot, N., additional, Faivre, L., additional, and Thauvin‐Robinet, C., additional

Published
2014
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50. More on the classification of cysteinyl leukotriene receptors: subclassification of CysLT1 and CysLT2 receptors based on endogenous liquids

Author

Rovati, G.E., Capra, V., and Nicosia, S.

Subjects
Leukotrienes -- Analysis, Lungs -- Physiological aspects, Biological sciences, Chemistry, Pharmaceuticals and cosmetics industries
Abstract

The classification of cysteinyl leukotriene (CysLT) receptors in the human lung by I. Gorenne and colleagues is misleading. While the authors base their classification on the category approved by the International Union of Pharmacology (IUPHAR), IUPHAR itself classifies CysLT receptors based on antagonist selectivity. CystLT1 are receptors blocked by classical antagonists and by BAYu9773, while CystLT2 are those blocked only by BAYu9773 and not by classical antagonists.

Published
1997

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