2020
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal Of Human Genetics 2020, 107: 158-163. PMID: 32516568, PMCID: PMC7332602, DOI: 10.1016/j.ajhg.2020.05.013.Peer-Reviewed Original ResearchConceptsDominant Mendelian disorderAutocatalytic cleavage siteMendelian disordersProtein residuesASPRV1Cleavage siteEpidermal differentiationMissense mutationsFilaggrin processingMutationsExome sequencingGenetic causeEpidermal barrier integrityEpidermal layerPalmoplantar keratodermaLamellar ichthyosisClose proximitySomatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma.
Lim YH, Zaki TD, Levinsohn JL, Galan A, Choate KA, Hanlon AM. Somatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma. Dermatologic Surgery 2020, 47: 290-292. PMID: 32079866, DOI: 10.1097/dss.0000000000002342.Peer-Reviewed Original Research
2019
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions
Atzmony L, Zaki TD, Antaya RJ, Choate KA. Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions. American Journal Of Medical Genetics Part A 2019, 179: 2469-2473. PMID: 31566882, PMCID: PMC7914397, DOI: 10.1002/ajmg.a.61362.Peer-Reviewed Original ResearchConceptsDowling-Degos diseasePhenotypic expansionMosaic disordersFunction mutationsDistinct clinical presentationsSomatic copy-neutral lossGermline heterozygous mutationsWhole-exome sequencingClinical presentationEczematous plaquesFollicular papulesAffected skinSkin diseasesBlaschko's linesCopy-neutral lossHeterozygous mutationsReticulated hyperpigmentationExome sequencingNormal keratinocytesPostzygotic mutationDisordersExpression levelsSomatic mutationsLesionsKeratinocytes