PubMed:16781314 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"T2","span":{"begin":137,"end":287},"obj":"Sentence"},{"id":"T3","span":{"begin":288,"end":443},"obj":"Sentence"},{"id":"T4","span":{"begin":444,"end":571},"obj":"Sentence"},{"id":"T5","span":{"begin":572,"end":689},"obj":"Sentence"},{"id":"T6","span":{"begin":690,"end":818},"obj":"Sentence"},{"id":"T7","span":{"begin":819,"end":1043},"obj":"Sentence"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-entities","denotations":[{"id":"3016","span":{"begin":0,"end":44},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3017","span":{"begin":87,"end":94},"obj":"SequenceVariant"},{"id":"3018","span":{"begin":122,"end":135},"obj":"GeneOrGeneProduct"},{"id":"3019","span":{"begin":169,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3020","span":{"begin":214,"end":227},"obj":"GeneOrGeneProduct"},{"id":"3021","span":{"begin":242,"end":286},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3022","span":{"begin":365,"end":379},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3023","span":{"begin":393,"end":412},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3024","span":{"begin":414,"end":428},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3025","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3026","span":{"begin":597,"end":610},"obj":"GeneOrGeneProduct"},{"id":"3027","span":{"begin":616,"end":620},"obj":"GeneOrGeneProduct"},{"id":"3028","span":{"begin":643,"end":674},"obj":"SequenceVariant"},{"id":"3029","span":{"begin":721,"end":725},"obj":"GeneOrGeneProduct"},{"id":"3030","span":{"begin":803,"end":817},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3031","span":{"begin":912,"end":925},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A4","pred":"db_id","subj":"3019","obj":"MESH:D030342"},{"id":"A1","pred":"db_id","subj":"3016","obj":"MESH:C536183"},{"id":"A3","pred":"db_id","subj":"3018","obj":"NCBIGene:5317"},{"id":"A11","pred":"db_id","subj":"3026","obj":"NCBIGene:5317"},{"id":"A8","pred":"db_id","subj":"3023","obj":"MESH:D017499"},{"id":"A6","pred":"db_id","subj":"3021","obj":"MESH:C536183"},{"id":"A2","pred":"db_id","subj":"3017","obj":"c|DEL888|C"},{"id":"A13","pred":"db_id","subj":"3028","obj":"c|DEL888|C"},{"id":"A7","pred":"db_id","subj":"3022","obj":"MESH:C536183"},{"id":"A16","pred":"db_id","subj":"3031","obj":"NCBIGene:5317"},{"id":"A9","pred":"db_id","subj":"3024","obj":"MESH:D009260"},{"id":"A5","pred":"db_id","subj":"3020","obj":"NCBIGene:5317"},{"id":"A12","pred":"db_id","subj":"3027","obj":"NCBIGene:5317"},{"id":"A15","pred":"db_id","subj":"3030","obj":"MESH:D012873"},{"id":"A10","pred":"db_id","subj":"3025","obj":"MESH:D000505"},{"id":"A14","pred":"db_id","subj":"3029","obj":"NCBIGene:5317"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":169,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":798,"end":802},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0021152"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0004907"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0021136"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":87,"end":94},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":643,"end":656},"obj":"SequenceVariant"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":0,"end":10},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":21,"end":25},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":36,"end":44},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":77,"end":85},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":114,"end":121},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":122,"end":135},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":158,"end":162},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":206,"end":213},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":214,"end":227},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":242,"end":252},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":263,"end":267},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":278,"end":286},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":303,"end":307},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":320,"end":323},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":324,"end":328},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":365,"end":369},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":414,"end":418},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":434,"end":442},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":444,"end":448},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":521,"end":528},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":539,"end":544},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":572,"end":580},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":597,"end":610},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":616,"end":620},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":695,"end":703},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":721,"end":725},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":750,"end":754},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":798,"end":802},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":828,"end":831},"obj":"GeneOrGeneProduct"},{"id":"T30","span":{"begin":832,"end":837},"obj":"GeneOrGeneProduct"},{"id":"T31","span":{"begin":843,"end":850},"obj":"GeneOrGeneProduct"},{"id":"T32","span":{"begin":912,"end":925},"obj":"GeneOrGeneProduct"},{"id":"T33","span":{"begin":952,"end":960},"obj":"GeneOrGeneProduct"},{"id":"T34","span":{"begin":964,"end":968},"obj":"GeneOrGeneProduct"},{"id":"T35","span":{"begin":998,"end":1005},"obj":"GeneOrGeneProduct"},{"id":"T36","span":{"begin":1020,"end":1030},"obj":"GeneOrGeneProduct"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":0,"end":10},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":36,"end":44},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":114,"end":121},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":122,"end":135},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":206,"end":213},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":214,"end":227},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":242,"end":252},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":278,"end":286},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":434,"end":442},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":444,"end":448},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":521,"end":528},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":539,"end":544},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":597,"end":610},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":616,"end":620},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":721,"end":725},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":798,"end":802},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":843,"end":850},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":912,"end":925},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":952,"end":960},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":998,"end":1005},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":1020,"end":1030},"obj":"GeneOrGeneProduct"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":0,"end":44},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":169,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":242,"end":286},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"C536183"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"DISEASE"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"C536183"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D000505"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":122,"end":135},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":214,"end":227},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":444,"end":448},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":597,"end":610},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":616,"end":620},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":721,"end":725},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":912,"end":925},"obj":"GeneOrGeneProduct"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":0,"end":44},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":242,"end":286},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":324,"end":328},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":365,"end":369},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":401,"end":412},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":803,"end":817},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":964,"end":968},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0006566"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0024255"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0004907"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0002531"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0002531"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0002531"},{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0011472"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0011472"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":0,"end":44},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":169,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":242,"end":286},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":365,"end":379},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":393,"end":412},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":414,"end":428},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":803,"end":817},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"C536183"},{"id":"A6","pred":"ID:","subj":"T6","obj":"DISEASE"},{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"},{"id":"A2","pred":"ID:","subj":"T2","obj":"DISEASE"},{"id":"A3","pred":"ID:","subj":"T3","obj":"C536183"},{"id":"A8","pred":"ID:","subj":"T8","obj":"DISEASE"},{"id":"A4","pred":"ID:","subj":"T4","obj":"DISEASE"},{"id":"A7","pred":"ID:","subj":"T7","obj":"D000505"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":0,"end":44},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":169,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":242,"end":286},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":365,"end":379},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":393,"end":412},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":414,"end":428},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":803,"end":817},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"},{"id":"A1","pred":"#label","subj":"T1","obj":"C536183"},{"id":"A7","pred":"#label","subj":"T7","obj":"D000505"},{"id":"A8","pred":"#label","subj":"T8","obj":"DISEASE"},{"id":"A3","pred":"#label","subj":"T3","obj":"C536183"},{"id":"A4","pred":"#label","subj":"T4","obj":"DISEASE"},{"id":"A2","pred":"#label","subj":"T2","obj":"DISEASE"},{"id":"A6","pred":"#label","subj":"T6","obj":"DISEASE"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T7","span":{"begin":912,"end":925},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":721,"end":725},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":616,"end":620},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":597,"end":610},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":444,"end":448},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":214,"end":227},"obj":"GeneOrGeneProduct"},{"id":"T1","span":{"begin":122,"end":135},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":803,"end":817},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T98095","span":{"begin":434,"end":442},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11431","span":{"begin":414,"end":428},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T73192","span":{"begin":393,"end":412},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T95371","span":{"begin":365,"end":379},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T32858","span":{"begin":242,"end":286},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3596","span":{"begin":169,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T73070","span":{"begin":0,"end":44},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20656","span":{"begin":643,"end":656},"obj":"SequenceVariant"},{"id":"T254","span":{"begin":87,"end":94},"obj":"SequenceVariant"}],"attributes":[{"id":"A1","pred":"#label","subj":"T73070","obj":"C536183"},{"id":"A8","pred":"#label","subj":"T8","obj":"DISEASE"},{"id":"A2","pred":"#label","subj":"T3596","obj":"DISEASE"},{"id":"A6","pred":"#label","subj":"T11431","obj":"DISEASE"},{"id":"A7","pred":"#label","subj":"T98095","obj":"D000505"},{"id":"A5","pred":"#label","subj":"T73192","obj":"DISEASE"},{"id":"A4","pred":"#label","subj":"T95371","obj":"DISEASE"},{"id":"A3","pred":"#label","subj":"T32858","obj":"C536183"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":137,"end":287},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":288,"end":443},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":444,"end":571},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":572,"end":689},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":690,"end":818},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":819,"end":1043},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"T2","span":{"begin":137,"end":287},"obj":"Sentence"},{"id":"T3","span":{"begin":288,"end":443},"obj":"Sentence"},{"id":"T4","span":{"begin":444,"end":571},"obj":"Sentence"},{"id":"T5","span":{"begin":572,"end":689},"obj":"Sentence"},{"id":"T6","span":{"begin":690,"end":818},"obj":"Sentence"},{"id":"T7","span":{"begin":819,"end":1043},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":242,"end":262},"obj":"HP_0000968"},{"id":"T2","span":{"begin":263,"end":277},"obj":"HP_0001030"},{"id":"T3","span":{"begin":365,"end":379},"obj":"HP_0001030"},{"id":"T4","span":{"begin":414,"end":428},"obj":"HP_0008404"},{"id":"T5","span":{"begin":434,"end":442},"obj":"HP_0001596"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16781314-1#77#90#gene5317","span":{"begin":214,"end":227},"obj":"gene5317"},{"id":"16781314-1#105#149#diseaseC1858302","span":{"begin":242,"end":286},"obj":"diseaseC1858302"},{"id":"16781314-5#31#35#gene5317","span":{"begin":721,"end":725},"obj":"gene5317"},{"id":"16781314-5#113#127#diseaseC0037277","span":{"begin":803,"end":817},"obj":"diseaseC0037277"}],"relations":[{"id":"77#90#gene5317105#149#diseaseC1858302","pred":"associated_with","subj":"16781314-1#77#90#gene5317","obj":"16781314-1#105#149#diseaseC1858302"},{"id":"31#35#gene5317113#127#diseaseC0037277","pred":"associated_with","subj":"16781314-5#31#35#gene5317","obj":"16781314-5#113#127#diseaseC0037277"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":0,"end":20},"obj":"HP:0000968"},{"id":"AB1","span":{"begin":242,"end":262},"obj":"HP:0000968"},{"id":"AB2","span":{"begin":414,"end":428},"obj":"HP:0008404"},{"id":"AB3","span":{"begin":434,"end":442},"obj":"HP:0001596"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":44},"obj":"ORDO:158668"},{"id":"AB1","span":{"begin":242,"end":286},"obj":"ORDO:158668"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":414,"end":418},"obj":"http://purl.obolibrary.org/obo/UBERON_0001705"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":0,"end":10},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":242,"end":252},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":1020,"end":1030},"obj":"http://purl.obolibrary.org/obo/UBERON_0000924"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":87,"end":94},"obj":"DNAMutation:|DEL|888|C"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":214,"end":227},"obj":"gene:5317"},{"id":"T1","span":{"begin":242,"end":286},"obj":"disease:C1858302"},{"id":"T2","span":{"begin":721,"end":725},"obj":"gene:5317"},{"id":"T3","span":{"begin":803,"end":817},"obj":"disease:C0037277"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.\nWe report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development."}