All Stories

  1. Dysuricemia

    Article • Biomedicines, November 2023, MDPI AG

    Dr. Akiyoshi Nakayama

  2. Polygenic risk scores validated in patient-derived cells stratify for mitochondrial subtypes of Parkinson’s disease

    Article • May 2023, Cold Spring Harbor Laboratory Press

    Dr. Akiyoshi Nakayama

  3. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

    Article • Movement Disorders, February 2023, Wiley

    Dr. Akiyoshi Nakayama

  4. A genome-wide association analysis of 2,622,830 individuals reveals new pathogenic pathways in gout

    Article • November 2022, Cold Spring Harbor Laboratory Press

    Dr. Akiyoshi Nakayama

  5. SNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout

    Article • Rheumatology, October 2022, Oxford University Press (OUP)

    Dr. Akiyoshi Nakayama

  6. DOCK2 is involved in the host genetics and biology of severe COVID-19

    Article • Nature, August 2022, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  7. The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited

    Article • Movement Disorders, July 2022, Wiley

    Dr. Akiyoshi Nakayama

  8. Urate Transporter ABCG2 Function and Asymptomatic Hyperuricemia: A Retrospective Cohort Study of CKD Progression

    Article • American Journal of Kidney Diseases, July 2022, Elsevier

    Dr. Akiyoshi Nakayama

  9. Genome-wide meta-analysis between renal overload type and renal underexcretion type of clinically defined gout in Japanese populations

    Article • Molecular Genetics and Metabolism, July 2022, Elsevier

    Dr. Akiyoshi Nakayama

  10. Nanaomycin E inhibits NLRP3 inflammasome activation by preventing mitochondrial dysfunction

    Article • International Immunology, June 2022, Oxford University Press (OUP)

    Dr. Akiyoshi Nakayama

  11. Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors

    Article • Annals of Neurology, June 2022, Wiley

    Dr. Akiyoshi Nakayama

  12. Oridonin suppresses particulate-induced NLRP3-independent IL-1α release to prevent crystallopathy in the lung

    Article • International Immunology, May 2022, Oxford University Press (OUP)

    Dr. Akiyoshi Nakayama

  13. OAT10/SLC22A13 Acts as a Renal Urate Re-Absorber: Clinico-Genetic and Functional Analyses With Pharmacological Impacts

    Article • Frontiers in Pharmacology, April 2022, Frontiers

    Dr. Akiyoshi Nakayama

  14. Coffee Consumption Reduces Gout Risk Independently of Serum Uric Acid Levels: Mendelian Randomization Analyses Across Ancestry Populations

    Article • ACR Open Rheumatology, March 2022, Wiley

    Dr. Akiyoshi Nakayama

  15. A meta-analysis of genome-wide association studies using Japanese and Taiwanese has revealed novel loci associated with gout susceptibility

    Article • Human Cell, January 2022, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  16. Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach

    Article • Human Cell, September 2021, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  17. A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals

    Article • Biomedicines, August 2021, MDPI AG

    Dr. Akiyoshi Nakayama

  18. Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene

    Article • Rheumatology, July 2021, Oxford University Press (OUP)

    Dr. Akiyoshi Nakayama

  19. Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity

    Article • Human Cell, May 2021, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  20. An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate

    Article • Rheumatology, May 2021, Oxford University Press (OUP)

    Dr. Akiyoshi Nakayama

  21. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12

    Article • Rheumatology, April 2021, Oxford University Press (OUP)

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  22. First clinical practice guideline for renal hypouricaemia: a rare disorder that aided the development of urate-lowering drugs for gout

    Article • Rheumatology, March 2021, Oxford University Press (OUP)

    Dr. Akiyoshi Nakayama

  23. Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population

    Article • Human Cell, January 2021, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  24. The influence of a noisy environment on hearing impairment and tinnitus: The hearing outcomes of 50-year-old male Japan ground self-defense force personnel

    Article • Auris Nasus Larynx, December 2020, Elsevier

    Dr. Akiyoshi Nakayama

  25. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families

    Article • Rheumatology, October 2020, Oxford University Press (OUP)

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  26. 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

    Article • Annals of the Rheumatic Diseases, April 2020, BMJ

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  27. Dysfunctional ABCG2 gene polymorphisms are associated with serum uric acid levels and all-cause mortality in hemodialysis patients

    Article • Human Cell, March 2020, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  28. A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population

    Article • Human Cell, January 2020, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  29. Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels

    Article • Annals of the Rheumatic Diseases, November 2019, BMJ

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  30. Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

    Article • Annals of the Rheumatic Diseases, July 2019, BMJ

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  31. Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals

    Article • Communications Biology, April 2019, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  32. Clinical practice guideline for renal hypouricemia (1st edition)

    Article • Human Cell, February 2019, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  33. Identification of ABCG2 as an Exporter of Uremic Toxin Indoxyl Sulfate in Mice and as a Crucial Factor Influencing CKD Progression

    Article • Scientific Reports, July 2018, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  34. Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese

    Article • BMC Medical Genetics, June 2018, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  35. A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility

    Article • Human Cell, October 2017, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  36. Multiple common and rare variants of ABCG2 cause gout

    Article • RMD Open, August 2017, BMJ

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  37. Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk

    Article • Scientific Reports, May 2017, Springer Science + Business Media

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  38. Expression of a human NPT1/SLC17A1 missense variant which increases urate export

    Article • Nucleosides Nucleotides & Nucleic Acids, December 2016, Taylor & Francis

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  39. Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population

    Article • Drug Metabolism and Pharmacokinetics, December 2016, Elsevier

    Dr. Akiyoshi Nakayama, Dr. Toshihide Higashino

  40. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

    Article • Annals of the Rheumatic Diseases, November 2016, BMJ

    Dr. Toshihide Higashino, Dr. Akiyoshi Nakayama

  41. Meta-analysis confirms an association between gout and a common variant of LRRC16A locus

    Article • Modern Rheumatology, September 2016, Taylor & Francis

    Dr. Akiyoshi Nakayama, Dr. Toshihide Higashino

  42. Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2

    Article • Scientific Reports, August 2016, Nature

    Dr. Akiyoshi Nakayama, Dr. Toshihide Higashino

  43. Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus

    Article • Scientific Reports, May 2016, Nature

    Dr. Akiyoshi Nakayama

  44. The effects of URAT1/SLC22A12 nonfunctional variants,R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression

    Article • Scientific Reports, January 2016, Nature

    Dr. Akiyoshi Nakayama, Dr. Toshihide Higashino

  45. Association Between Serum Uric Acid Levels/Hyperuricemia and Hypertension Among 85,286 Japanese Workers

    Article • Journal of Clinical Hypertension, July 2015, Wiley

    Dr. Akiyoshi Nakayama

  46. Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

    Article • Journal of Human Genetics, July 2015, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  47. Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes

    Article • Annals of the Rheumatic Diseases, February 2015, BMJ

    Dr. Akiyoshi Nakayama

  48. ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout

    Article • Annals of Clinical and Translational Neurology, January 2015, Wiley

    Dr. Akiyoshi Nakayama

  49. NPT1/SLC17A1 Is a Renal Urate Exporter in Humans and Its Common Gain‐of‐Function Variant Decreases the Risk of Renal Underexcretion Gout

    Article • Arthritis & Rheumatology, December 2014, Wiley

    Dr. Akiyoshi Nakayama

  50. Common Variant of PDZK1, Adaptor Protein Gene of Urate Transporters, is Not Associated with Gout

    Article • The Journal of Rheumatology, November 2014, The Journal of Rheumatology

    Dr. Akiyoshi Nakayama

  51. Common variant of ALPK1 is not associated with gout: a replication study

    Article • Human Cell, October 2014, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  52. Genetic factor is stronger than environmental factors in the progression of hyperuricemia.

    Article • Scientific Reports, June 2014, Nature

    Dr. Akiyoshi Nakayama

  53. cGKII/PRKG2 does not associate with gout in Japanese

    Article • The Journal of Rheumatology, June 2014, The Journal of Rheumatology

    Dr. Akiyoshi Nakayama

  54. ABCG2 Dysfunction Increases Serum Uric Acid by Decreased Intestinal Urate Excretion

    Article • Nucleosides Nucleotides & Nucleic Acids, April 2014, Taylor & Francis

    Professor Nariyoshi Shinomiya, Dr. Akiyoshi Nakayama

  55. Identification of a Hypouricemia Patient with SLC2A9 R380W, A Pathogenic Mutation for Renal Hypouricemia Type 2

    Article • Nucleosides Nucleotides & Nucleic Acids, April 2014, Taylor & Francis

    Professor Nariyoshi Shinomiya, Dr. Akiyoshi Nakayama

  56. ABCG2 Dysfunction Increases the Risk of Renal Overload Hyperuricemia

    Article • Nucleosides Nucleotides & Nucleic Acids, April 2014, Taylor & Francis

    Professor Nariyoshi Shinomiya, Dr. Akiyoshi Nakayama

  57. Dysfunctional ABCG2 causes both RUE and ROL hyperuricemia

    Article • Scientific Reports, January 2014, Nature

    Dr. Akiyoshi Nakayama

  58. OAT4 associates with RUE type gout

    Article • Drug Metabolism and Pharmacokinetics, January 2014, Japanese Society for the Study of Xenobiotics

    Dr. Akiyoshi Nakayama

  59. Frequency of genotype combination of ABCG2 differs along populations

    Article • Drug Metabolism and Pharmacokinetics, January 2014, Japanese Society for the Study of Xenobiotics

    Dr. Akiyoshi Nakayama

  60. LRP2 variants are not associated with gout in Japanese

    Article • Rheumatology International, December 2013, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  61. LRRC16A variant associates with gout

    Article • Human Cell, December 2013, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  62. MCT9 variants is accosiated with renal overload gout.

    Article • Human Cell, August 2013, Springer Science + Business Media

    Dr. Akiyoshi Nakayama

  63. ABCG2 dysfunction is a major cause of early-onset gout.

    Article • Scientific Reports, June 2013, Nature

    Dr. Akiyoshi Nakayama

  64. A novel concept of the classification of gout and hyperuricemia

    Article • Nature Communications, April 2012, Nature

    Dr. Akiyoshi Nakayama

  65. ABCG2 is a High-Capacity Urate Transporter and its Genetic Impairment Increases Serum Uric Acid Levels in Humans

    Article • Nucleosides Nucleotides & Nucleic Acids, December 2011, Taylor & Francis

    Dr. Akiyoshi Nakayama

  66. ABCG2/BCRP Dysfunction as a Major Cause of Gout

    Article • Nucleosides Nucleotides & Nucleic Acids, December 2011, Taylor & Francis

    Dr. Akiyoshi Nakayama

  67. Identification ofABCG2Dysfunction as a Major Factor Contributing to Gout

    Article • Nucleosides Nucleotides & Nucleic Acids, December 2011, Taylor & Francis

    Dr. Akiyoshi Nakayama

  68. Pathogenic GLUT9 Mutations Causing Renal Hypouricemia Type 2 (RHUC2)

    Article • Nucleosides Nucleotides & Nucleic Acids, December 2011, Taylor & Francis

    Dr. Akiyoshi Nakayama

  69. Transient degradation of myelin basic protein in the rat hippocampus following acute carbon monoxide poisoning

    Article • Neuroscience Research, November 2010, Elsevier

    Dr. Akiyoshi Nakayama

  70. ABCG2 dysfunctional variants cause a common disease, gout.

    Article • Science Translational Medicine, November 2009, American Association for the Advancement of Science

    Dr. Akiyoshi Nakayama

  71. Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

    Article • The American Journal of Human Genetics, December 2008, Elsevier

    Dr. Akiyoshi Nakayama

  72. The second urate transporter GLUT9 was found.

    Article • The American Journal of Human Genetics, December 2008, Elsevier

    Dr. Akiyoshi Nakayama

  73. The relationships between titers of anti-Ro or anti-La as measured by ELISA and salivary production rate with age correction

    Article • Modern Rheumatology, July 2008, Informa Healthcare

    Dr. Akiyoshi Nakayama