Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population

Fast gapped-read alignment with Bowtie 2

Langmead, B., & Salzberg, S. L. (2012) · Nature Methods · doi:10.1038/nmeth.1923 · Cited by 56,400 · see citing works

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

Howie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928 · see citing works

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638 · see citing works

Improved whole-chromosome phasing for disease and population genetic studies

Delaneau, O., Zagury, J., & Marchini, J. (2012) · Nature Methods · doi:10.1038/nmeth.2307 · Cited by 1,309 · see citing works

Primary Biliary Cirrhosis

Schwab, M. (2011) · Springer eBooks · doi:10.1007/978-3-642-16483-5_4730 · Cited by 1,241 · see citing works

Primary biliary cirrhosis # †

Lindor, K. D., Gershwin, E. M., Poupon, R., Kaplan, M., Bergasa, N. V., & Heathcote, J. E. (2009) · Hepatology · doi:10.1002/hep.22906 · Cited by 1,099 · see citing works

Structural Basis of Protein Kinase C Isoform Function

Steinberg, S. (2008) · Physiological Reviews · doi:10.1152/physrev.00034.2007 · Cited by 922 · see citing works

FINEMAP: efficient variable selection using summary data from genome-wide association studies

Benner, C., Spencer, C. C. A., Havulinna, A. S., Salomaa, V., Ripatti, S., & Pirinen, M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw018 · Cited by 815 · see citing works

Biological interpretation of genome-wide association studies using predicted gene functions

Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., et al. (2015) · Nature Communications · doi:10.1038/ncomms6890 · Cited by 787 · see citing works

Primary Biliary Cirrhosis Associated with <i>HLA, IL12A,</i> and <i>IL12RB2</i> Variants

Hirschfield, G. M., Liu, X., Xu, C., Lu, Y., Xie, G., Lu, Y., Gu, X., Walker, E. J., Jing, K., Juran, B. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810440 · Cited by 594 · see citing works

Primary biliary cirrhosis in monozygotic and dizygotic twins: Genetics, epigenetics, and environment

Selmi, C., Mayo, M. J., Bach, N., Ishibashi, H., Invernizzi, P., Gish, R. G., Gordon, S. C., Wright, H. I., Zweiban, B., Podda, M., et al. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.05.005 · Cited by 480 · see citing works

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

The UK PBC Consortium, Mells, G. F., The Wellcome Trust Case Control Consortium 3, Floyd, J. A. B., Morley, K. I., Cordell, H. J., Franklin, C. S., Shin, S.-Y., Heneghan, M. A., Neuberger, J. M., et al. (2011) · Nature Genetics · doi:10.1038/ng.789 · Cited by 464 · see citing works

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

Liu, X., Invernizzi, P., Lu, Y., Kosoy, R., Lu, Y., Bianchi, I., Podda, M., Xu, C., Xie, G., Macciardi, F., et al. (2010) · Nature Genetics · doi:10.1038/ng.627 · Cited by 398 · see citing works

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Nagasaki, M., Yasuda, J., Katsuoka, F., Nariai, N., Kojima, K., Kawai, Y., Yamaguchi‐Kabata, Y., Yokozawa, J., Danjoh, I., Saito, S., et al. (2015) · Nature Communications · doi:10.1038/ncomms9018 · Cited by 392 · see citing works

Seeing is believing

Berthiaume, L. G. (2013) · Nature Chemical Biology · doi:10.1038/nchembio.1414 · Cited by 367 · see citing works

Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies

Yamaguchi‐Kabata, Y., Nakazono, K., Takahashi, A., Saito, S., Hosono, N., Kubo, M., Nakamura, Y., & Kamatani, N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.019 · Cited by 348 · see citing works

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Cordell, H. J., Han, Y., Mells, G. F., Li, Y., Hirschfield, G. M., Greene, C. S., Xie, G., Juran, B. D., Zhu, D., Qian, D. C., et al. (2015) · Nature Communications · doi:10.1038/ncomms9019 · Cited by 287 · see citing works

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

The UK Primary Biliary Cirrhosis (PBC) Consortium, Liu, J. Z., The Wellcome Trust Case Control Consortium 3, Almarri, M. A., Gaffney, D. J., Mells, G. F., Jostins, L., Cordell, H. J., Ducker, S. J., Day, D. B., et al. (2012) · Nature Genetics · doi:10.1038/ng.2395 · Cited by 274 · see citing works

Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population

Nakamura, M., Nishida, N., Kawashima, M., Aiba, Y., Tanaka, A., Yasunami, M., Nakamura, H., Komori, A., Nakamuta, M., Zeniya, M., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.010 · Cited by 267 · see citing works

The Genotype-Tissue Expression (GTEx) project

Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics · doi:10.1038/ng.2653 · Cited by 263 · see citing works

Primary Biliary Cirrhosis

Hirschfield, G. M., & Heathcote, E. J. (2010) · Wiley eBooks · doi:10.1002/9781444314403.ch32 · Cited by 260 · see citing works

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

Hirschfield, G. M., Liu, X., Han, Y., Gorlov, I. P., Lu, Y., Xu, C., Lu, Y., Chen, W., Juran, B. D., Coltescu, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.631 · Cited by 215 · see citing works

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants

Juran, B. D., Hirschfield, G. M., Invernizzi, P., Atkinson, E. J., Li, Y., Xie, G., Kosoy, R., Ransom, M., Sun, Y., Bianchi, I., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds359 · Cited by 150 · see citing works

PRKCB/protein kinase C, beta and the mitochondrial axis as key regulators of autophagy

Patergnani, S., Marchi, S., Rimessi, A., Bonora, M., Giorgi, C., Mehta, K. D., & Pinton, P. (2013) · Autophagy · doi:10.4161/auto.25239 · Cited by 94 · see citing works

Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women

Costas, J., Gratacòs, M., Escaramís, G., Martín‐Santos, R., de Diego‐Otero, Y., Baca‐García, E., Cañellas, F., Estivill, X., Guillamat, R., Guitart, M., et al. (2010) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2009.12.012 · Cited by 90 · see citing works

Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes

Hirschfield, G. M., Xie, G., Lu, E., Sun, Y., Juran, B. D., Chellappa, V, Coltescu, C., Mason, A. L., Milkiewicz, P., Myers, R. P., et al. (2012) · Genes &amp; Immunity · doi:10.1038/gene.2011.89 · Cited by 85 · see citing works

Protein Kinase C (PKC ): Nomal Functions and Dieases

Kawakami, T., Kawakami, Y., & Kitaura, J. (2002) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a003273 · Cited by 80 · see citing works

Follow-up study identifies two novel susceptibility loci PRKCB and 8p11.21 for systemic lupus erythematosus

Sheng, Y.-J., Gao, J.-P., Li, J., Han, J.-W., Xu, Q., Hu, W., Pan, T.-M., Cheng, Y., Yu, Z., Ni, C., et al. (2010) · Lara D. Veeken · doi:10.1093/rheumatology/keq313 · Cited by 66 · see citing works

Genetic Variants of the Protein Kinase C-β 1 Gene and Development of End-Stage Renal Disease in Patients With Type 2 Diabetes

Ronald, C. W. (2010) · JAMA · doi:10.1001/jama.2010.1191 · Cited by 61 · see citing works

Pathway-based analysis of primary biliary cirrhosis genome-wide association studies

Kar, S., Seldin, M. F., Chen, W., Lu, E., Hirschfield, G. M., Invernizzi, P., Heathcote, J., Cusi, D., the Italian PBC Genetics Study Group, Almasio, P. L., et al. (2013) · Genes and Immunity · doi:10.1038/gene.2013.1 · Cited by 55 · see citing works

Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population

Dong, M., Li, J., Tang, R., Zhu, P., Qiu, F., Wang, C., Qiu, J., Wang, L., Dai, Y., Xu, P., et al. (2015) · Clinical Reviews in Allergy &amp; Immunology · doi:10.1007/s12016-015-8472-0 · Cited by 54 · see citing works

Appropriate data cleaning methods for genome-wide association study

Miyagawa, T., Nishida, N., Ohashi, J., Kimura, R., Fujimoto, A., Kawashima, M., Koike, A., Sasaki, T., Tanii, H., Otowa, T., et al. (2008) · Journal of Human Genetics · doi:10.1007/s10038-008-0322-y · Cited by 52 · see citing works

Implications of genome‐wide association studies in novel therapeutics in primary biliary cirrhosis

Carbone, M., Lleò, A., Sandford, R. N., & Invernizzi, P. (2014) · European Journal of Immunology · doi:10.1002/eji.201344270 · Cited by 38 · see citing works

Novel modulating effects of PKC family genes on the relationship between serum vitamin D and relapse in multiple sclerosis

Lin, R., Taylor, B. V., Simpson, S., Charlesworth, J., Ponsonby, A., Pittas, F., Dwyer, T., & van der Mei, I. A. F. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2013-305245 · Cited by 33 · see citing works

Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1

Hitomi, Y., Kawashima, M., Aiba, Y., Nishida, N., Matsuhashi, M., Okazaki, H., Nakamura, M., & Tokunaga, K. (2015) · Human Genetics · doi:10.1007/s00439-015-1556-3 · Cited by 30 · see citing works

Emerging role of protein kinase C in energy homeostasis: A brief overview

Mehta, K. D. (2014) · World Journal of Diabetes · doi:10.4239/wjd.v5.i3.385 · Cited by 24 · see citing works

Protein Kinase Cβ Is Required for Lupus Development in Sle Mice

Oleksyn, D. W., Pulvino, M. J., Zhao, J., Misra, R., Vosoughi, A., Jenks, S. A., Tipton, C. M., Lund, F. E., Schwartz, G. J., Goldman, B., et al. (2012) · Arthritis & Rheumatism · doi:10.1002/art.37825 · Cited by 17 · see citing works

Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation

Teh, C. E., Horikawa, K., Arnold, C. N., Beutler, B., Kucharska, E. M., Vinuesa, C. G., Bertram, E. M., Goodnow, C. C., & Enders, A. (2013) · Genes and Immunity · doi:10.1038/gene.2013.11 · Cited by 6 · see citing works

Autophagy researchers

(2012) · Autophagy · doi:10.4161/auto.22782 · Cited by 6 · see citing works

A polymorphism in the protein kinase C gene PRKCB is associated with α2-adrenoceptor-mediated vasoconstriction

Posti, J. P., Salo, P. P., Ruohonen, S., Valve, L., Muszkat, M., Sofowora, G. G., Kurnik, D., Stein, C. M., Perola, M., Scheinin, M., et al. (2013) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32835d247f · Cited by 5 · see citing works

Primary biliary cholangitis

Lleo, A., Wang, G.-Q., Gershwin, M. E., & Hirschfield, G. M. (2020) · The Lancet · doi:10.1016/s0140-6736(20)31607-x · Cited by 253 · see citing works

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Cordell, H. J., Fryett, J. J., Ueno, K., Darlay, R., Aiba, Y., Hitomi, Y., Kawashima, M., Nishida, N., Khor, S.-S., Gervais, O., et al. (2021) · Journal of Hepatology · doi:10.1016/j.jhep.2021.04.055 · Cited by 182 · see citing works

Primary biliary cholangitis.

Tanaka, A., Ma, X., Takahashi, A., & Vierling, J. M. (2024) · The Lancet · doi:10.1016/s0140-6736(24)01303-5 · Cited by 177 · see citing works

Current understanding of primary biliary cholangitis

Tanaka, A. (2020) · Clinical and Molecular Hepatology · doi:10.3350/cmh.2020.0028 · Cited by 159 · see citing works

Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases

Salem, S., Salem, D., & Gros, P. (2020) · Human Genetics · doi:10.1007/s00439-020-02154-2 · Cited by 124 · see citing works

Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways

Li, X., Christenson, S. A., Modena, B. D., Li, H., Busse, W. W., Castro, M., Denlinger, L. C., ERZURUM, S. C., Fahy, J. V., Gaston, B. M., et al. (2020) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.07.030 · Cited by 92 · see citing works

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Jia, X., Yamamura, T., Gbadegesin, R., McNulty, M. T., Song, K., Nagano, C., Hitomi, Y., Lee, D., Aiba, Y., Khor, S., et al. (2020) · Kidney International · doi:10.1016/j.kint.2020.05.029 · Cited by 71 · see citing works

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Asselta, R., Paraboschi, E. M., Gerussi, A., Cordell, H. J., Mells, G. F., Sandford, R. N., Jones, D. E., Nakamura, M., Ueno, K., Hitomi, Y., et al. (2021) · Gastroenterology · doi:10.1053/j.gastro.2021.02.061 · Cited by 55 · see citing works

Genetics and epigenetics in the pathogenesis of primary biliary cholangitis

Joshita, S., Umemura, T., Tanaka, E., & Ôta, M. (2017) · Clinical Journal of Gastroenterology · doi:10.1007/s12328-017-0799-z · Cited by 51 · see citing works

PI3K/mTOR is a therapeutically targetable genetic dependency in diffuse intrinsic pontine glioma

Duchatel, R. J., Jackson, E. R., Parackal, S., Kiltschewskij, D. J., Findlay, I. J., Mannan, A., Staudt, D. E., Thomas, B. C., Germon, Z. P., Laternser, S., et al. (2024) · Journal of Clinical Investigation · doi:10.1172/jci170329 · Cited by 45 · see citing works

Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis

Hitomi, Y., Kojima, K., Kawashima, M., Kawai, Y., Nishida, N., Aiba, Y., Yasunami, M., Nagasaki, M., Nakamura, M., & Tokunaga, K. (2017) · Scientific Reports · doi:10.1038/s41598-017-03067-3 · Cited by 43 · see citing works

Serum Autotaxin Is a Useful Disease Progression Marker in Patients with Primary Biliary Cholangitis

Joshita, S., Umemura, T., Usami, Y., Yamashita, Y., Norman, G. L., Sugiura, A., Yamazaki, T., Fujimori, N., Kimura, T., Matsumoto, A., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-26531-0 · Cited by 41 · see citing works

Evolution of our understanding of PBC

Tanaka, A., Leung, P. S. C., & Gershwin, M. E. (2018) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2018.05.008 · Cited by 40 · see citing works

Genome‐wide Association Studies of Specific Antinuclear Autoantibody Subphenotypes in Primary Biliary Cholangitis

Wang, C., Zheng, X., Jiang, P., Tang, R., Gong, Y., Dai, Y., Wang, L., Xu, P., Sun, W., Wang, L., et al. (2019) · Hepatology · doi:10.1002/hep.30604 · Cited by 36 · see citing works

Environmental factors, medical and family history, and comorbidities associated with primary biliary cholangitis in Japan: a multicenter case–control study

Matsumoto, K., Ohfuji, S., Abe, M., Komori, A., Takahashi, A., Fujii, H., Kawata, K., Noritake, H., Tadokoro, T., Honda, A., et al. (2022) · Journal of Gastroenterology · doi:10.1007/s00535-021-01836-6 · Cited by 35 · see citing works

The Genetics and Epigenetics of Primary Biliary Cholangitis

Tanaka, A., Leung, P. S. C., & Gershwin, M. E. (2018) · Clinics in Liver Disease · doi:10.1016/j.cld.2018.03.002 · Cited by 33 · see citing works

Aberrant expression of alternative splicing variants in multiple sclerosis – A systematic review

Hecker, M., Rüge, A., Putscher, E., Boxberger, N., Rommer, P. S., Fitzner, B., & Zettl, U. K. (2019) · Autoimmunity Reviews · doi:10.1016/j.autrev.2019.05.010 · Cited by 34 · see citing works

HLA, gut microbiome and hepatic autoimmunity

Beretta‐Piccoli, B. T., Mieli‐Vergani, G., & Vergani, D. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.980768 · Cited by 32 · see citing works

Principal contribution of HLA-DQ alleles, DQB1*06:04 and DQB1*03:01, to disease resistance against primary biliary cholangitis in a Japanese population

Yasunami, M., Nakamura, H., Tokunaga, K., Kawashima, M., Nishida, N., Hitomi, Y., & Nakamura, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-11148-6 · Cited by 31 · see citing works

The genetic architecture of primary biliary cholangitis

Gerussi, A., Carbone, M., Corpechot, C., Schramm, C., Asselta, R., & Invernizzi, P. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104292 · Cited by 31 · see citing works

The genetics of primary biliary cholangitis

Tanaka, A., Leung, P. S. C., & Gershwin, M. E. (2018) · Current Opinion in Gastroenterology · doi:10.1097/mog.0000000000000507 · Cited by 30 · see citing works

NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants

Hitomi, Y., Nakatani, K., Kojima, K., Nishida, N., Kawai, Y., Kawashima, M., Aiba, Y., Nagasaki, M., Nakamura, M., & Tokunaga, K. (2018) · Cellular and Molecular Gastroenterology and Hepatology · doi:10.1016/j.jcmgh.2018.11.006 · Cited by 29 · see citing works

POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33

Hitomi, Y., Ueno, K., Kawai, Y., Nishida, N., Kojima, K., Kawashima, M., Aiba, Y., Nakamura, H., Kouno, H., Kouno, H., et al. (2019) · Scientific Reports · doi:10.1038/s41598-018-36490-1 · Cited by 29 · see citing works

Mechanism-based target therapy in primary biliary cholangitis: opportunities before liver cirrhosis?

Yang, Y., He, X.-S., Rojas, M., Leung, P. S. C., & Gao, L. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1184252 · Cited by 29 · see citing works

The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update

Hitomi, Y., & Nakamura, M. (2023) · Genes · doi:10.3390/genes14020405 · Cited by 26 · see citing works

Clinical utility of FibroScan as a non‐invasive diagnostic test for primary biliary cholangitis

Joshita, S., Yamashita, Y., Sugiura, A., Uehara, T., Usami, Y., Yamazaki, T., Fujimori, N., Matsumoto, A., Tanaka, E., & Umemura, T. (2019) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.14929 · Cited by 26 · see citing works

Association of autoimmune hepatitis with Src homology 2 adaptor protein 3 gene polymorphisms in Japanese patients

Umemura, T., Joshita, S., Hamano, H., Yoshizawa, K., Kawa, S., Tanaka, E., & Ota, M. (2017) · Journal of Human Genetics · doi:10.1038/jhg.2017.74 · Cited by 23 · see citing works

Recurrence of disease following organ transplantation in autoimmune liver disease and systemic lupus erythematosus

Tanaka, A., Kono, H., Leung, P. S. C., & Gershwin, M. E. (2019) · Cellular Immunology · doi:10.1016/j.cellimm.2019.104021 · Cited by 22 · see citing works

Integrated GWAS and mRNA Microarray Analysis Identified IFNG and CD40L as the Central Upstream Regulators in Primary Biliary Cholangitis

Ueno, K., Aiba, Y., Hitomi, Y., Shimoda, S., Nakamura, H., Gervais, O., Kawai, Y., Kawashima, M., Nishida, N., Kohn, S.-S., et al. (2020) · Hepatology Communications · doi:10.1002/hep4.1497 · Cited by 21 · see citing works

Population-Specific Genetic and Expression Differentiation in Europeans

Jiang, X., & Assis, R. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa021 · Cited by 18 · see citing works

Epigenetics of Primary Biliary Cholangitis

Li, Y., Tang, R., & Ma, X. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-3449-2_10 · Cited by 14 · see citing works

New insights on the role of human leukocyte antigen complex in primary biliary cholangitis

Mulinacci, G., Palermo, A., Gerussi, A., Asselta, R., Gershwin, M. E., & Invernizzi, P. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.975115 · Cited by 12 · see citing works

Novel HLA allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population

Khor, S., Ueno, K., Nishida, N., Kawashima, M., Kawai, Y., Aiba, Y., Hitomi, Y., Nagasaki, M., Nakamura, M., & Tokunaga, K. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1151502 · Cited by 12 · see citing works

rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Hitomi, Y., Aiba, Y., Kawai, Y., Kojima, K., Ueno, K., Nishida, N., Kawashima, M., Gervais, O., Khor, S., Nagasaki, M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-84042-x · Cited by 12 · see citing works

Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population

Gervais, O., Ueno, K., Kawai, Y., Hitomi, Y., Aiba, Y., Ueta, M., Nakamura, M., Tokunaga, K., & Nagasaki, M. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00854-5 · Cited by 12 · see citing works

NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population

Nishida, N., Aiba, Y., Hitomi, Y., Kawashima, M., Kojima, K., Kawai, Y., Ueno, K., Nakamura, H., Yamashiki, N., Tanaka, T., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-26369-6 · Cited by 11 · see citing works

Genome-wide haplotype association analysis of primary biliary cholangitis risk in Japanese

Im, C., Sapkota, Y., Moon, W., Kawashima, M., Nakamura, M., Tokunaga, K., & Yasui, Y. (2018) · Scientific Reports · doi:10.1038/s41598-018-26112-1 · Cited by 8 · see citing works

Genetics of Autoimmune Liver Diseases

Gerussi, A., Carbone, M., Asselta, R., & Invernizzi, P. (2020) · Springer eBooks · doi:10.1007/978-3-030-51709-0_5 · Cited by 6 · see citing works

Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases

Hitomi, Y., & Tokunaga, K. (2017) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.93.042 · Cited by 6 · see citing works

Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci

Zhang, M., Lyu, L., Ge, L., Wang, Y., & Gu, D. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1600364 · Cited by 4 · see citing works

Assessment of the possible impact of hepatitis viruses on the development and course of autoimmune liver diseases

Сергеевна, С. Е., Vinnitskaya, E. V., Николаевич, Б. С., Sandler, Y. G., Германович, С. К., Кhaimenova, T. Y., & Bordin, D. S. (2023) · Terapevticheskii arkhiv · doi:10.26442/00403660.2023.02.202113 · Cited by 4 · see citing works

ChIP-seq analysis found IL21R, a target gene of GTF2I–the susceptibility gene for primary biliary cholangitis in Chinese Han

Wu, Z., Li, H., Xu, H., Feng, F., Zhang, F., Zhang, S., Wang, L., & Li, Y. (2023) · Hepatology International · doi:10.1007/s12072-023-10586-x · Cited by 4 · see citing works

Primary Biliary Cholangitis with Ankylosing Spondylitis

Hong, Y. M., Yoon, K. T., & Cho, M. (2022) · Korean Journal of Gastroenterology · doi:10.4166/kjg.2022.048 · Cited by 3 · see citing works

Epigenetics of autoimmune liver diseases: current progress and future directions

Liu, Q., Li, Y., Ma, X., & Tang, R. (2019) · Journal of Bio-X Research · doi:10.1097/jbr.0000000000000030 · Cited by 3 · see citing works

Replication study and meta-analysis indicate a suggestive association of RUNX3 locus with primary biliary cholangitis

Jawed, R., Zhang, M., Wang, C., Yang, S., Jiang, P., Wu, Q., Li, L., Chen, W., Gershwin, M. E., Tian, Y., et al. (2020) · Immunogenetics · doi:10.1007/s00251-020-01192-4 · Cited by 2 · see citing works

The Pathogenesis of Autoimmune Liver Diseases

Kovalic, A. J., & Bonkovsky, H. L. (2020) · Springer eBooks · doi:10.1007/978-3-030-33628-8_2 · Cited by 2 · see citing works

Functional investigation and two-sample Mendelian randomization study of primary biliary cholangitis hub genes

Yang, Y., Ma, X., Zhou, C., Xu, N., Ding, D., Ma, Z., Zhou, L., & Cui, P. (2024) · World Journal of Clinical Cases · doi:10.12998/wjcc.v12.i30.6391 · Cited by 1 · see citing works

A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy

Chong, A., Brenner, N., Jiménez-Kaufmann, A., Cortes, A., Hill, M., Littlejohns, T., Gilchrist, J., Fairfax, B., Knight, J. C., Hodel, F., et al. (2024) · American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.12.013 · Cited by 1 · see citing works

Geoepidemiology of Autoimmune Liver Diseases

Lyu, Z., Gershwin, M. E., & Ma, X. (2020) · Springer eBooks · doi:10.1007/978-3-030-51709-0_11 · Cited by 1 · see citing works

Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis

González‐Serna, D., Kerick, M., & Martin, J. J. (2019) · Rare diseases of the immune system · doi:10.1007/978-3-030-03934-9_9

Genetics and Risk of Autoimmune Liver Diseases

Mells, G. F. (2020) · doi:10.1002/9781119532637.ch3

Novel Candidate Genes Detection Using Bayesian Network‐Based Genome‐Wide Association Study of Latent Traits in F2 Chicken Population

Manzoori, S., Torshizi, R. V., Masoudi, A. A., & Momen, M. M. (2025) · Journal of Animal Breeding and Genetics · doi:10.1111/jbg.12926

Hepatic protein kinase Cβ antagonizing p38 MAPK to activate ERK1/2 to dysregulate biliary lipid composition upon lithogenic stress

Shu, Y., Rai, A., Sizemore, G. M., Ostrowski, M. C., Huang, W., & Mehta, K. D. (2025) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00208.2025

Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population

Nakamura, M., Nishida, N., Kawashima, M., Aiba, Y., Tanaka, A., Yasunami, M., Nakamura, H., Komori, A., Nakamuta, M., Zeniya, M., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.010 · Cited by 267 · see citing works

Analysis of disease-pathways by susceptibility genes in primary biliary cirrhosis

Nakamura, M. (2014) · Inflammation and Regeneration · doi:10.2492/inflammregen.34.078 · Cited by 2 · see citing works

A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitis

Hitomi, Y., Ueno, K., Aiba, Y., Nishida, N., Kono, M., Sugihara, M., Kawai, Y., Kawashima, M., Khor, S., Sugi, K., et al. (2024) · Hepatology · doi:10.1097/hep.0000000000000894 · Cited by 14 · see citing works

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

The UK PBC Consortium, Mells, G. F., The Wellcome Trust Case Control Consortium 3, Floyd, J. A. B., Morley, K. I., Cordell, H. J., Franklin, C. S., Shin, S.-Y., Heneghan, M. A., Neuberger, J. M., et al. (2011) · Nature Genetics · doi:10.1038/ng.789 · Cited by 464 · see citing works

Analysis of disease-pathway by identifying susceptibility genes to primary biliary cirrhosis

MAKAMURA, M. (2012) · Japanese Journal of Clinical Immunology · doi:10.2177/jsci.35.503 · Cited by 5 · see citing works