2013
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi. Journal Of Investigative Dermatology 2013, 134: 1149-1152. PMID: 24129065, PMCID: PMC3961553, DOI: 10.1038/jid.2013.430.Peer-Reviewed Original Research
2001
Human Hypertension Caused by Mutations in WNK Kinases
Wilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Human, Pair 12Chromosomes, Human, Pair 17CytoplasmFemaleGene Expression Regulation, EnzymologicGenetic LinkageHumansHypertensionIntercellular JunctionsIntracellular Signaling Peptides and ProteinsIntronsKidney Tubules, CollectingKidney Tubules, DistalMaleMembrane ProteinsMicroscopy, FluorescenceMinor Histocompatibility AntigensMolecular Sequence DataMutationMutation, MissensePedigreePhosphoproteinsProtein Serine-Threonine KinasesPseudohypoaldosteronismSequence DeletionSignal TransductionWNK Lysine-Deficient Protein Kinase 1Zonula Occludens-1 ProteinConceptsMajor public health problemPublic health problemRenal salt reabsorptionAntihypertensive drugsHuman hypertensionUnknown causeDistal nephronKidney segmentsPseudohypoaldosteronism type IIHealth problemsSalt reabsorptionHypertensionWNK1 expressionNew targetsWNK kinasesTight junctionsType IISerine-threonine kinaseIntronic deletionWNK4WNK familyMutationsWNK1KinaseExcretion
1997
Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts
Freiberg R, Spencer D, Choate K, Duh H, Schreiber S, Crabtree G, Khavari P. Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts. Journal Of Investigative Dermatology 1997, 108: 215-219. PMID: 9008237, DOI: 10.1111/1523-1747.ep12334273.Peer-Reviewed Original Research
1996
Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*
Freiberg R, Spencer D, Choate K, Peng P, Schreiber S, Crabtree G, Khavari P. Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*. Journal Of Biological Chemistry 1996, 271: 31666-31669. PMID: 8940187, DOI: 10.1074/jbc.271.49.31666.Peer-Reviewed Original ResearchConceptsFas signal transduction pathwaySignal transduction pathwaysCytoplasmic domainTransduction pathwaysReceptor cytoplasmic domainFas signal transductionSignal transductionConstitutive promoterPlasma membraneGenotoxic injuryHuman keratinocytesFK1012Membrane receptorsCell typesPoint mutationsFA effectsViability of keratinocytesPhorbol esterSpecific triggeringGrowth stimuliFKBPBinding stepCellular changesNormal human keratinocytesProtein