2015
Absence of KMT2D/MLL2 mutations in abdominal paraganglioma
Stenman A, Juhlin CC, Haglund F, Brown TC, Clark VE, Svahn F, Bilguvar K, Goh G, Korah R, Lifton RP, Carling T. Absence of KMT2D/MLL2 mutations in abdominal paraganglioma. Clinical Endocrinology 2015, 84: 632-634. PMID: 26303934, DOI: 10.1111/cen.12884.Peer-Reviewed Original ResearchSomatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum
Levinsohn JL, Sugarman JL, Bilguvar K, McNiff JM, Choate K, Genomics T. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. Journal Of Investigative Dermatology 2015, 135: 2536-2538. PMID: 25950823, PMCID: PMC4567902, DOI: 10.1038/jid.2015.180.Peer-Reviewed Original Research
2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, , Paller A, Choate K. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Journal Of Investigative Dermatology 2014, 135: 1540-1547. PMID: 25398053, PMCID: PMC4430428, DOI: 10.1038/jid.2014.485.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCell MembraneChildChild, PreschoolConnexin 43ConnexinsCraniofacial AbnormalitiesDisease ProgressionErythrokeratodermia VariabilisExomeEye AbnormalitiesFemaleFoot Deformities, CongenitalGolgi ApparatusHeLa CellsHumansImmunohistochemistryMaleMolecular Sequence DataMutagenesis, Site-DirectedMutationPhenotypeSequence Analysis, DNASequence Homology, Amino AcidSkin DiseasesSyndactylyTooth AbnormalitiesConceptsSkin diseasesGJA1 mutationsErythrokeratodermia variabilis et progressivaOculodentodigital dysplasiaProgressive skin diseaseDe novo missense mutationsNovo missense mutationCutaneous findingsDominant de novo mutationsSkin disordersGap junction proteinDe novo mutationsBarrier functionConnexin 43Exome sequencingJunction proteinsPalmoplantar keratodermaDysplasiaGJA1Novo mutationsDiseaseMissense mutationsDifferent mutationsEpidermal homeostasisMembrane localization