Annalisa Frattini
- Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
2000/07/01 by Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi +10 · 565 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Nursing · #Anatomy #Biology #Bone Metabolism and Diseases #Bone health and treatments #Bone resorption #Endocrinology #Gene #Genetics #Immunology #Internal medicine #Medicine #Mutant #Osteochondrodysplasia #Osteoclast #Osteopetrosis #Pathology #T cell #TCIRG1 #Trace Elements in Health
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA
2004/01/01 by Lucia Susani, Alessandra Pangrazio, Cristina Sobacchi +9 · 93 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Bone Metabolism and Diseases #NF-κB Signaling Pathways #Immune Response and Inflammation #Biology #RNA splicing #Genetics #Osteopetrosis #Small nuclear RNA #Mutation #Identification (biology) #Molecular biology #Gene #RNA #RNA-dependent RNA polymerase #Immunology