Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis

Journal of Dermatological Science

Volumn 68, Issue 1, 2012, Pages 36-44

  Sasaki, Takashi ^a   Niizeki, Hironori ^b   Shimizu, Atsushi ^a   Shiohama, Aiko ^a   Hirakiyama, Asami ^b   Okuyama, Torayuki ^b   Seki, Atsuhito ^b   Kabashima, Kenji ^c   Otsuka, Atsushi ^c   Ishiko, Akira ^d   Tanese, Keiji ^e   Miyakawa, Shun Ichi ^e   Sakabe, Jun Ichi ^f   Kuwahara, Masamitsu ^g   Amagai, Masayuki ^a   Okano, Hideyuki ^a   Suematsu, Makoto ^a   Kudoh, Jun ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d TOHO UNIVERSITY   (Japan)

^e KAWASAKI MUNICIPAL HOSPITAL   (Japan)

^f HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

CVG; Mutation analysis; NGS; PDP; PGT; Prostaglandin transporter; SLCO2A1; SNP; Whole exome sequencing

Indexed keywords

ADENINE; CARRIER PROTEIN; GLUTAMIC ACID; GLUTAMINE; GUANINE; HISTIDINE; ISOLEUCINE; PROLINE; PROSTAGLANDIN E2; PROSTAGLANDIN TRANSPORTER; THREONINE; UNCLASSIFIED DRUG;

ADULT; ANALYTIC METHOD; ANALYZER; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EXOME; FOLLOW UP; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IDIOPATHIC CUTIS VERTICIS GYRATA; IDIOPATHIC DISEASE; JAPANESE; MALE; MUTATIONAL ANALYSIS; NEXT GENERATION DNA SEQUENCER; NUCLEOTIDE SEQUENCE; PACHYDERMOPERIOSTOSIS; POPULATION GENETICS; PRIORITY JOURNAL; PROSTAGLANDIN BLOOD LEVEL; PROSTAGLANDIN E2 BLOOD LEVEL; PROSTAGLANDIN E2 URINE LEVEL; PROSTAGLANDIN URINE LEVEL; SANGER METHOD; SKIN DISEASE; SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY MEMBER 2A1 GENE;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; DINOPROSTONE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; ORGANIC ANION TRANSPORTERS; OSTEOARTHROPATHY, PRIMARY HYPERTROPHIC; PHENOTYPE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84865771808     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2012.07.008     Document Type: Article

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