All Stories

  1. Coincidence of acral peeling skin syndrome and Nagashima‐type palmoplantar keratosis in a Japanese pedigree with acral skin peeling
  2. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
  3. A case of Hailey‐Hailey disease with novel ATP2C1 gene variant (c.G925C) showing unusual phenotype
  4. Practical forensic use of kinship determination using high-density SNP profiling based on a microarray platform, focusing on low-quantity DNA
  5. Hypertension-Associated Genes in the Mesenteric Artery of Three Spontaneously Hypertensive Rat Substrains Identified Using a DNA Array Method
  6. Assessment of Delayed Large Local Reactions After the First Dose of the SARS-CoV-2 mRNA-1273 Vaccine in Japan
  7. Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach
  8. Thromboxane A 2 receptor antagonist (ONO‐8809) attenuates renal disorders caused by salt overload in stroke‐prone spontaneously hypertensive rats
  9. Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity
  10. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12
  11. A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis
  12. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families
  13. Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients
  14. A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population
  15. Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels
  16. Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
  17. A new approach to identifying hypertension-associated genes in the mesenteric artery of spontaneously hypertensive rats and stroke-prone spontaneously hypertensive rats
  18. Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout
  19. Identification of ABCG2 as an Exporter of Uremic Toxin Indoxyl Sulfate in Mice and as a Crucial Factor Influencing CKD Progression
  20. Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese
  21. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
  22. A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility
  23. Multiple common and rare variants of ABCG2 cause gout
  24. Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk
  25. Expression of a human NPT1/SLC17A1 missense variant which increases urate export
  26. Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population
  27. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
  28. Meta-analysis confirms an association between gout and a common variant of LRRC16A locus
  29. Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2
  30. The effects of URAT1/SLC22A12 nonfunctional variants,R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression
  31. Photolocalized varicella in an adult
  32. Two cases of erythema exsudativum multiforme associated with Chlamydia pneumoniae infection