Francesco Brancati focuses on Genetics, Joubert syndrome, Mutation, Ciliopathies and Cilium. In his works, Francesco Brancati conducts interdisciplinary research on Genetics and Macrodontia. The various areas that Francesco Brancati examines in his Joubert syndrome study include TMEM67, Nephronophthisis, Ataxia and RPGRIP1L.
Francesco Brancati has included themes like Ciliary transition zone and Consanguinity in his RPGRIP1L study. The concepts of his Mutation study are interwoven with issues in Gerodermia osteodysplastica, Ankyrin repeat, Craniofacial and Short stature. In his research, Molecular biology and Kinase is intimately related to INPP5E, which falls under the overarching field of Cilium.
His primary areas of study are Genetics, Joubert syndrome, Mutation, Pathology and Phenotype. Locus, Gene, Missense mutation, Genetic heterogeneity and Genetic linkage are the primary areas of interest in his Genetics study. His work carried out in the field of Joubert syndrome brings together such families of science as TMEM67, Ciliopathies, Nephronophthisis, RPGRIP1L and Meckel syndrome.
His work on INPP5E as part of general Ciliopathies study is frequently connected to Ocular Motility Disorders, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them. He has researched Mutation in several fields, including Molecular biology and Short stature. His work deals with themes such as Human genetics and Exon, which intersect with Phenotype.
Francesco Brancati spends much of his time researching Genetics, Mutation, Phenotype, Gene and Missense mutation. Francesco Brancati applies his multidisciplinary studies on Genetics and Low copy repeats in his research. His Mutation research is multidisciplinary, incorporating elements of Gene expression, Transcription factor and Transcriptional regulation.
His Phenotype study integrates concerns from other disciplines, such as Cell cycle, In silico and Human genetics. His studies deal with areas such as Magnetic resonance imaging, Neurofibromatosis type 2 and Meningioma as well as Gene. His Missense mutation research incorporates themes from DNA Mutational Analysis, Muscular dystrophy, Protein aggregation and Myopathy.
Francesco Brancati mainly investigates Genetics, Phenotype, Gene, Human genetics and In silico. His work in Genetics incorporates the disciplines of Ablepharon and Acquired immune system. His multidisciplinary approach integrates Gene and ChIA-PET in his work.
His studies in Human genetics integrate themes in fields like Cell cycle, Molecular medicine and Mutant. His research integrates issues of Genome, Human genome, CRISPR, Locus and Regulation of gene expression in his study of Chromosome conformation capture. His Haploinsufficiency research includes themes of Missense mutation, Autosomal dominant trait, Notch signaling pathway and Proband.
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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz.
Formation of new chromatin domains determines pathogenicity of genomic duplications
Martin Franke;Martin Franke;Daniel M. Ibrahim;Guillaume Andrey;Wibke Schwarzer.
Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano.
Nature Genetics (2006)
Joubert Syndrome and related disorders
Francesco Brancati;Bruno Dallapiccola;Enza Maria Valente;Enza Maria Valente.
Orphanet Journal of Rare Diseases (2010)
Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
Nicole Revencu;Laurence M. Boon;John B. Mulliken;Odile Enjolras.
Human Mutation (2008)
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva.
Nature Genetics (2009)
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun.
American Journal of Human Genetics (2008)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee.
Nature Genetics (2010)
Mutations in PYCR1 cause cutis laxa with progeroid features
Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer.
Nature Genetics (2009)
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Asli Sirmaci;Michail Spiliopoulos;Francesco Brancati;Francesco Brancati;Francesco Brancati;Eric Powell.
American Journal of Human Genetics (2011)
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