Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo, +8

Nature

Somatic VariantPoint MutationsMendelian DisorderGenetic DisorderReceptor Tyrosine Kinase +8

Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2

Loredana Leo, Lisa Gherardini, Virginia Barone, +4

PLoS Genetics

Neurological DisorderSynaptic TransmissionKey Migraine TriggerNeurochemical BiomarkersCellular Neurobiology +29

Loss of function effect of RET mutations causing Hirschsprung disease

Barbara Pasini, Maria Grazia Borrello, Angela Greco, +12

Nature Genetics

Gene TherapiesRet MutationsGenetic DisorderGeneticsPathology +5

Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

Paola Bagnato, Virginia Barone, Emiliana Giacomello, +2

The Journal of Cell Biology

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

Isabella Ceccherini, Robert M.W. Hofstra, Yang Luo, +7

PubMed

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Marco Seri, Yin Luo, Virginia Barone, +17

Human Mutation

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

Yin Luo, Isabella Ceccherini, Barbara Pasini, +8

Human Molecular Genetics

Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney

Andrea Rasola, Luis J. V. Galietta, Virginia Barone, +2

FEBS Letters

Identification of the Cys634->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis

Isabella Cecherini, Cristina Romei, Virginia Barone, +5

Journal of Endocrinological Investigation

Genetic DisorderMedicineGeneticsPathologyMolecular Genetics +8

Contribution of Ryanodine Receptor Type 3 to Ca2+ Sparks in Embryonic Mouse Skeletal Muscle

Matthew W. Conklin, Virginia Barone, Vincenzo Sorrentino, +1

Biophysical Journal

Muscle FunctionDevelopmental BiologySignal TransductionMolecular PhysiologySkeletal Muscle +7