Search Results - "D'Amato, Ilaria"

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease by INDRIERI, Alessia, VAN RAHDEN, Vanessa Alexandra, ZVULUNOV, Alex, KUTSCHE, Kerstin, ZEVIANI, Massimo, FRANCO, Brunella, TIRANTI, Valeria, MORLEO, Manuela, IACONIS, Daniela, TAMMARO, Roberta, D'AMATO, Ilaria, CONTE, Ivan, MAYSTADT, Isabelle, DEMUTH, Stephanie

“…Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS),…”
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Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy by Andelic, Mirna, Salvi, Erika, Marcuzzo, Stefania, Marchi, Margherita, Lombardi, Raffaella, Cartelli, Daniele, Cazzato, Daniele, Mehmeti, Elkadia, Gelemanovic, Andrea, Paolini, Matilde, Pardo, Carlotta, D’Amato, Ilaria, Hoeijmakers, Janneke G J, Dib-Hajj, Sulayman, Waxman, Stephen G, Faber, Catharina G, Lauria, Giuseppe

“…Abstract Personalized management of neuropathic pain is an unmet clinical need due to heterogeneity of the underlying aetiologies, incompletely understood…”
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Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer’s disease identified by targeted exome sequencing by Piccoli, Elena, Rossi, Giacomina, Rossi, Tommaso, Pelliccioni, Giuseppe, D’Amato, Ilaria, Tagliavini, Fabrizio, Di Fede, Giuseppe

“…Abstract Autosomal dominant Alzheimer’s disease (AD) is caused by mutations in amyloid precursor protein ( APP ), presenilin1 ( PSEN1 ) and presenilin 2 (…”
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Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features by Karch, Celeste M, Ezerskiy, Lubov, Redaelli, Veronica, Giovagnoli, Anna Rita, Tiraboschi, Pietro, Pelliccioni, Giuseppe, Pelliccioni, Paolo, Kapetis, Dimos, D'Amato, Ilaria, Piccoli, Elena, Ferretti, Maria Giulia, Tagliavini, Fabrizio, Rossi, Giacomina

“…Abstract GRN , the gene coding for the progranulin (PGRN) protein, was recognized as a gene linked to frontotemporal lobar degeneration (FTLD). The first…”
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Olanzapine Improved Symptoms and Olfactory Function in an Olfactory Reference Syndrome Patient by Albers, Alefiya Dhilla, Amato, Ilaria, Albers, Mark W

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Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A by Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe

“…Mutations in the alpha subunit of voltage-gated sodium channel 1.7 (NaV1.7), encoded by SCN9A gene, play an important role in the regulation of nociception and…”
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Training of primary care physicians enhances performance of mobile teledermatology by Massone, Cesare, Javor, Sanja, Amato, Ilaria, Biondo, Giovanni, Brunasso, Alexandra Maria Giovanna, Hofmann-Wellenhof, Rainer

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Ricolinostat induces microtubule acetylation and neurite regeneration in cellular models of diabetic and chemotheraphy-induced neuropathy by Cartelli, Daniele, Mazzetti, Samanta, Lombardi, Raffaella, Cazzato, Daniele, Andelic, Mirna, Marchi, Margherita, Salvi, Erika, D'Amato, Ilaria, Cappelletti, Graziella, Lauria, Giuseppe

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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model by BRUNETTI, Dario, DUSI, Sabrina, HAYFLICK, Susan, TIRANTI, Valeria, MORBIN, Michela, UGGETTI, Andrea, MODA, Fabio, D'AMATO, Ilaria, GIORDANO, Carla, D'AMATI, Giulia, COZZI, Anna, LEVI, Sonia

“…Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence…”
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TRPA1 rare variants in chronic neuropathic and nociplastic pain patients by Marchi, Margherita, Salvi, Erika, Andelic, Mirna, Mehmeti, Elkadia, D'Amato, Ilaria, Cazzato, Daniele, Chiappori, Federica, Lombardi, Raffaella, Cartelli, Daniele, Devigili, Grazia, Dalla Bella, Eleonora, Gerrits, Monique, Almomani, Rowida, Malik, Rayaz A., Ślęczkowska, Milena, Mazzeo, Anna, Gentile, Luca, Dib-Hajj, Sulayman, Waxman, Stephen G., Faber, Catharina G., Vecchio, Eleonora, de Tommaso, Marina, Lauria, Giuseppe

“…Missing aspects of the heritability of chronic neuropathic pain, as a complex adult-onset trait, may be hidden within rare variants with low effect on disease…”
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A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia by Marchi, Margherita, Provitera, Vincenzo, Nolano, Maria, Romano, Marcello, Maccora, Simona, D'Amato, Ilaria, Salvi, Erika, Gerrits, Monique, Santoro, Lucio, Lauria, Giuseppe

“…Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different…”
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Inhibition of Angiogenesis via FGF-2 Blockage in Primitive and Bone Metastatic Renal Cell Carcinoma by CENNI, Elisabetta, PERUT, Francesca, GRANCHI, Donatella, AVNET, Sofia, AMATO, Ilaria, BRANDI, Maria Luisa, GIUNTI, Armando, BALDINI, Nicola

“…Background: Fibroblast growth factor-2 (FGF-2) has a role in the angiogenesis induced by renal carcinoma. Materials and Methods: Blockage of FGF-2 by an…”
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Primitive and Bone Metastatic Renal Carcinoma Cells Promote Osteoclastogenesis through Endothelial Cells by CENNI, Elisabetta, PERUT, Francesca, GRANCHI, Donatella, AMATO, Ilaria, AVNET, Sofia, BRANDI, Maria Luisa, GIUNTI, Armando, BALDINI, Nicola

“…Background: The contribution of angiogenesis to renal carcinoma bone metastases is virtually unknown. Materials and Methods: The effect of a cell line from a…”
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Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A by Marchi, Margherita, D’Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe

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Inhibition of Angiogenic Activity of Renal Carcinoma by an Antisense Oligonucleotide Targeting Fibroblast Growth Factor-2 by CENNI, Elisabetta, PERUT, Francesca, ZUNTINI, Monia, GRANCHI, Donatella, AMATO, Ilaria, AVNET, Sofia, BRANDI, Maria Luisa, GIUNTI, Armando, BALDINI, Nicola

“…Background: Fibroblast growth factor-2 (FGF-2) induces angiogenesis, critical for the growth and metastatic spread of tumors. Materials and Methods: The effect…”
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Isolation and Characterization of a New Cell Line from a Renal Carcinoma Bone Metastasis by AVNET, Sofia, CENNI, Elisabetta, GRANCHI, Donatella, PERUT, Francesca, AMATO, Ilaria, BATTISTELLI, Luca, BRANDI, Maria Luisa, GIUNTI, Armando, BALDINI, Nicola

“…Background: The use of cell lines isolated from metastases should enable the assessment of peculiar aspects of bone resorbing cytokine expression, as well as…”
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Effects of age on parathyroid hormone signaling in human marrow stromal cells by Zhou, Shuanhu, Bueno, Ericka M., Kim, Sung Won, Amato, Ilaria, Shen, Longxiang, Hahne, Jochen, Bleiberg, Ilan, Morley, Paul, Glowacki, Julie

“…Summary Human bone marrow stromal cells (hMSCs) have the potential to differentiate into osteoblasts; there are age‐related decreases in their proliferation…”
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Paracrine inhibition of osteoblast differentiation induced by neuroblastoma cells by Granchi, Donatella, Baglìo, Serena Rubina, Amato, Ilaria, Giunti, Armando, Baldini, Nicola

“…The aim of our study was to investigate whether the defective function of osteogenic cells induced by neuroblastoma might play a role in the development of…”
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Expression of cell adhesion receptors in human osteoblasts cultured on biofunctionalized poly-( ε -caprolactone) surfaces by Amato, Ilaria, Ciapetti, Gabriela, Pagani, Stefania, Marletta, Giovanni, Satriano, Cristina, Baldini, Nicola, Granchi, Donatella

“…Abstract This study was aimed to investigate whether the activation of poly-( ε -caprolactone) (PCL) surface by low-energy irradiation and/or the…”
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Molecular basis of osteoclastogenesis induced by osteoblasts exposed to wear particles by Granchi, Donatella, Amato, Ilaria, Battistelli, Luca, Ciapetti, Gabriela, Pagani, Stefania, Avnet, Sofia, Baldini, Nicola, Giunti, Armando

“…In this study, we investigate the molecular mechanisms by which human osteoblasts (HOB) challenged with wear debris promote the differentiation of osteoclast…”
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