Eitan Friedman

TL;DR: Mutations within exon 8 of the Gs alpha gene that result in increased activity of theGs protein and increased cAMP formation are present in various tissues of patients with the McCune-Albright syndrome.

TL;DR: An amino acid substitution in the NF1 GRD, altering Lys-1423, is described that has occurred in three tumor types: colon adenocarcinoma, myelodysplastic syndrome, and anaplastic astrocytoma, and in one family with neurofibromatosis 1.

TL;DR: It is concluded that many "hyperplastic" parathyroid tumors in familial MEN-1 are in fact monoclonal and may progress or even begin to develop by inactivation of theMEN-1 gene (at 11q13 in a precursor cell).

TL;DR: Heterozygous mutations in the Gs alpha-subunit gene were found in two kindreds, illustrating the heterogeneity of genetic defects in Albright hereditary osteodystrophy and the usefulness of the polymerase chain reaction-denaturing gradient gel electrophoresis method to search rapidly for mutations in a large candidate gene.

TL;DR: No structural coding abnormalities in the DRD2 gene are present in alcoholism or schizophrenia, and three infrequent DNA variants that predict altered amino acid sequence of the receptor are found.