{"id":"https://openalex.org/W2279685173","doi":null,"title":"Mal de Meleda in a taiwanese.","display_name":"Mal de Meleda in a taiwanese.","publication_year":2005,"publication_date":"2005-04-01","ids":{"openalex":"https://openalex.org/W2279685173","mag":"2279685173","pmid":"https://pubmed.ncbi.nlm.nih.gov/15909066"},"language":"en","primary_location":{"id":"pmid:15909066","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15909066","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Formosan Medical Association = Taiwan yi zhi","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108157049","display_name":"Sheau\u2010Chiou Chao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158999","display_name":"National Cheng Kung University Hospital","ror":"https://ror.org/04zx3rq17","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210158999"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Sheau-Chiou Chao","raw_affiliation_strings":["Department of Dermatology, National Cheng-Kung University Hospital, Tainan, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, National Cheng-Kung University Hospital, Tainan, Taiwan","institution_ids":["https://openalex.org/I4210158999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088124085","display_name":"Feng\u2010Jei Lai","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Feng-Jei Lai","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100877611","display_name":"Mei\u2010Hui Yang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mei-Hui Yang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5086336843","display_name":"Julia Yu-Yun Lee","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julia Yu-Yun Lee","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3976,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.63610124,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":95},"biblio":{"volume":"104","issue":"4","first_page":"276","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.004699999932199717,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mal-de-meleda","display_name":"Mal de Meleda","score":0.9409999847412109},{"id":"https://openalex.org/keywords/slurp-1","display_name":"SLURP-1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/homozygous-missense-variant","display_name":"homozygous missense mutation","score":0.9259999990463257},{"id":"https://openalex.org/keywords/hyperpigmented-macules","display_name":"hyperpigmented macules","score":0.7319999933242798}],"concepts":[{"id":"https://openalex.org/C2778951404","wikidata":"https://www.wikidata.org/wiki/Q7128426","display_name":"Palmoplantar keratoderma","level":3,"score":0.8949376344680786},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8002327680587769},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.765730619430542},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7233354449272156},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5629183053970337},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.5381177067756653},{"id":"https://openalex.org/C2780713498","wikidata":"https://www.wikidata.org/wiki/Q2897327","display_name":"Dyskeratosis","level":3,"score":0.4996929168701172},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.49466773867607117},{"id":"https://openalex.org/C2779915019","wikidata":"https://www.wikidata.org/wiki/Q1640998","display_name":"Hyperkeratosis","level":2,"score":0.39695385098457336},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.37202227115631104},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.363838255405426},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.139611154794693}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007645","descriptor_name":"Keratoderma, Palmoplantar","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007645","descriptor_name":"Keratoderma, Palmoplantar","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:15909066","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15909066","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Formosan Medical Association = Taiwan yi zhi","raw_type":"Case Reports"},{"id":"mag:2279685173","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15909066","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1964016010","https://openalex.org/W1978307593","https://openalex.org/W1991444602","https://openalex.org/W2006083437","https://openalex.org/W2008804265","https://openalex.org/W2014153531","https://openalex.org/W2046607296","https://openalex.org/W2051044414","https://openalex.org/W2057056265","https://openalex.org/W2068357891","https://openalex.org/W2082429525","https://openalex.org/W2103700388","https://openalex.org/W2116200468","https://openalex.org/W2127747996","https://openalex.org/W2139781265","https://openalex.org/W2164663952","https://openalex.org/W2166770890"],"related_works":["https://openalex.org/W2132995938","https://openalex.org/W1997330338","https://openalex.org/W2164017131","https://openalex.org/W2008804265","https://openalex.org/W2102798327","https://openalex.org/W2101612533","https://openalex.org/W7099835224","https://openalex.org/W1964016010","https://openalex.org/W1968921151","https://openalex.org/W2073763853"],"abstract_inverted_index":{"Mal":[0],"de":[1],"Meleda":[2],"(MDM)":[3],"is":[4],"a":[5,29,50,67,97],"rare":[6],"form":[7],"of":[8,39,52,61,73,78,105,108],"recessive":[9],"transgressive":[10],"palmoplantar":[11,53],"erythrokeratoderma":[12,60],"for":[13],"which":[14],"mutations":[15],"in":[16,34,66,102],"the":[17,62,74,79,82],"ARS":[18,25,106],"gene":[19,26,107],"have":[20],"been":[21],"identified":[22],"recently.":[23],"The":[24],"encodes":[27],"SLURP-1,":[28],"secreted":[30],"epidermal":[31,35],"neuromodulator":[32],"involved":[33],"homeostasis":[36],"and":[37,64,76,85],"inhibition":[38],"tumor":[40],"necrosis":[41],"factor-alpha":[42],"release.":[43],"A":[44],"27-year-old":[45],"Taiwanese":[46],"woman":[47],"who":[48],"had":[49],"history":[51],"keratoderma":[54],"since":[55],"birth":[56],"presented":[57],"with":[58,70],"severe":[59],"hands":[63],"feet":[65],"glove-and-stocking":[68],"distribution":[69],"conical":[71],"tapering":[72],"fingers,":[75],"involvement":[77],"skin":[80],"over":[81],"major":[83],"joints":[84],"thighs.":[86],"There":[87],"were":[88],"also":[89],"widespread":[90],"mottled":[91],"hyperpigmented":[92],"macules.":[93],"Mutation":[94],"analysis":[95],"revealed":[96],"homozygous":[98],"missense":[99],"mutation":[100],"(G86R)":[101],"exon":[103],"3":[104],"this":[109],"patient.":[110]},"counts_by_year":[{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}