Roberto Ravazzolo mainly investigates Genetics, Molecular biology, Internal medicine, Biochemistry and Mutation. His Molecular biology research is multidisciplinary, incorporating perspectives in Inducer, Chloride channel, Biophysics, Ion transporter and Transcription. Roberto Ravazzolo has researched Chloride channel in several fields, including Primary transcript, Alternative splicing, Exon, Membrane potential and Patch clamp.
His Internal medicine research is multidisciplinary, incorporating elements of Fluorescence in situ hybridization, Derivative chromosome and Endocrinology. His Biochemistry study frequently draws connections to adjacent fields such as Cell biology. His work carried out in the field of Mutation brings together such families of science as Cancer research, Heterotopic ossification, Allele and Kinase activity.
His primary areas of investigation include Genetics, Molecular biology, Gene, Internal medicine and Cell biology. His Molecular biology research integrates issues from Cell culture, Transcription, Transcription factor, Transcriptional regulation and Biochemistry. In his work, RET proto-oncogene is strongly intertwined with Cancer research, which is a subfield of Gene.
His research is interdisciplinary, bridging the disciplines of Endocrinology and Internal medicine. As part of the same scientific family, Roberto Ravazzolo usually focuses on Cell biology, concentrating on Cystic fibrosis transmembrane conductance regulator and intersecting with Chloride channel. His Allele research is multidisciplinary, incorporating perspectives in Genotype and Exon.
Roberto Ravazzolo focuses on Cell biology, Genetics, Fibrodysplasia ossificans progressiva, Phenotype and Internal medicine. Roberto Ravazzolo combines subjects such as Autophagy, Cell culture, Mutant and Cystic fibrosis transmembrane conductance regulator with his study of Cell biology. His work deals with themes such as HEK 293 cells and Chloride channel, which intersect with Cystic fibrosis transmembrane conductance regulator.
Roberto Ravazzolo combines topics linked to Molecular biology with his work on Genetics. His studies deal with areas such as Mutation, Exon, Allele and Transactivation as well as Phenotype. His Internal medicine research includes themes of Endocrinology and Mucin.
His primary scientific interests are in Cell biology, Autophagy, Internal medicine, Mutant and Heat shock protein. His Cell biology study incorporates themes from Secretion, Mutant protein and Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator. His Mutant protein study combines topics from a wide range of disciplines, such as Proteasome, Molecular biology and Green fluorescent protein.
The Internal medicine study combines topics in areas such as Mutation, Endocrinology and Exon. His Mutant research focuses on subjects like Transactivation, which are linked to Phenotype. Phenotype is a subfield of Genetics that Roberto Ravazzolo tackles.
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TMEM16A, A Membrane Protein Associated with Calcium-Dependent Chloride Channel Activity
Antonella Caputo;Emanuela Caci;Loretta Ferrera;Nicoletta Pedemonte.
Science (2008)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood.
Nature (2011)
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
H. Azzedine;A. Bolino;T. Taïeb;N. Birouk.
American Journal of Human Genetics (2003)
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M;Cusano R;Gangarossa S;Caridi G.
Nature Genetics (2000)
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
I Matera;T Bachetti;F Puppo;M Di Duca.
Journal of Medical Genetics (2004)
MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
Marco Seri;Alessandro Pecci;Filomena Di Bari;Roberto Cusano.
Medicine (2003)
Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing
Loretta Ferrera;Antonella Caputo;Ifeoma Ubby;Erica Bussani.
Journal of Biological Chemistry (2009)
IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro.
Luis J. V. Galietta;Patrick Pagesy;Chiara Folli;Emanuela Caci.
Journal of Immunology (2002)
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications
Andrea D'Osualdo;Francesca Ferlito;Ignazia Prigione;Laura Obici.
Arthritis & Rheumatism (2006)
Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences
Marco Musso;Renata Bocciardi;Sara Parodi;Roberto Ravazzolo.
The Journal of Molecular Diagnostics (2006)
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