Detalhe da pesquisa
1.
A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitis.
Hepatology
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652555
2.
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.
Hum Genet
; 143(1): 19-33, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994973
3.
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data.
J Hum Genet
; 68(11): 759-767, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468573
4.
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
Hum Genomics
; 16(1): 46, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271469
5.
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
Gastroenterology
; 160(7): 2483-2495.e26, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675743
6.
rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis.
J Autoimmun
; 126: 102775, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34864633
7.
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
J Hepatol
; 75(3): 572-581, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033851
8.
A Guillain-Barré syndrome-associated SIGLEC10 rare variant impairs its recognition of gangliosides.
J Autoimmun
; 116: 102571, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223341
9.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Kidney Int
; 98(5): 1308-1322, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554042
10.
Inhibitory effects of biseokeaniamide A against lipopolysaccharide-induced signal transduction.
Bioorg Med Chem Lett
; 30(11): 127069, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173199
11.
Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
Hum Mol Genet
; 26(3): 650-659, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062665
12.
De novo mutations in epileptic encephalopathies.
Nature
; 501(7466): 217-21, 2013 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23934111
13.
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
J Am Soc Nephrol
; 29(8): 2189-2199, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30012571
14.
Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].
J Hepatol
; 78(4): 883, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639314
15.
Corrigendum to 'An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs' [J Hepatol 2021;75(3):572-581].
J Hepatol
; 76(2): 489, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34895949
16.
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.
Proc Jpn Acad Ser B Phys Biol Sci
; 93(9): 657-676, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29129848
17.
IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement.
J Allergy Clin Immunol
; 135(6): 1538-45.e17, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25672763
18.
Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1.
Hum Genet
; 134(7): 737-47, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899471
19.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Am J Hum Genet
; 91(6): 1065-72, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176824
20.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Genet Med
; 17(10): 774-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590979