Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
Panicker
Leelamma M
LM
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10, Room 8C-101, Bethesda, Maryland 20892, USA.
Zhang
Jian-Hua
JH
Dagur
Pradeep K
PK
Gastinger
Matthew J
MJ
Simonds
William F
WF
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D000818:Animals; D002277:Carcinoma / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002466:Cell Nucleolus / Q000378:metabolism*; D002478:Cells, Cultured; D005799:Genes, Dominant; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D007573:Jaw Neoplasms / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D007930:Leucine / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D050505:Mutant Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D020125:Mutation, Missense / Q000502:physiology; D041681:NIH 3T3 Cells; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics; D021381:Protein Transport / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism* / Q000502:physiology
C454900:CDC73 protein, human; D050505:Mutant Proteins; D025521:Tumor Suppressor Proteins; D010649:Phenylalanine; D007930:Leucine