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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 2
2011 3
2012 6
2013 7
2014 6
2015 7
2016 10
2017 10
2018 9
2019 6
2020 7
2021 4
2022 6
2023 7
2024 3

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84 results

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Page 1
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Ashraf S, et al. Among authors: funayama r. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. Nat Commun. 2018. PMID: 29773874 Free PMC article.
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
Masamune A, Kotani H, Sörgel FL, Chen JM, Hamada S, Sakaguchi R, Masson E, Nakano E, Kakuta Y, Niihori T, Funayama R, Shirota M, Hirano T, Kawamoto T, Hosokoshi A, Kume K, Unger L, Ewers M, Laumen H, Bugert P, Mori MX, Tsvilovskyy V, Weißgerber P, Kriebs U, Fecher-Trost C, Freichel M, Diakopoulos KN, Berninger A, Lesina M, Ishii K, Itoi T, Ikeura T, Okazaki K, Kaune T, Rosendahl J, Nagasaki M, Uezono Y, Algül H, Nakayama K, Matsubara Y, Aoki Y, Férec C, Mori Y, Witt H, Shimosegawa T. Masamune A, et al. Among authors: funayama r. Gastroenterology. 2020 May;158(6):1626-1641.e8. doi: 10.1053/j.gastro.2020.01.005. Epub 2020 Jan 10. Gastroenterology. 2020. PMID: 31930989
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Niihori T, et al. Among authors: funayama r. Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130285 Free PMC article.
Cellular senescence and chromatin structure.
Funayama R, Ishikawa F. Funayama R, et al. Chromosoma. 2007 Oct;116(5):431-40. doi: 10.1007/s00412-007-0115-7. Epub 2007 Jun 20. Chromosoma. 2007. PMID: 17579878 Review.
Wnt5a in cancer-associated fibroblasts promotes colorectal cancer progression.
Hirashima T, Karasawa H, Aizawa T, Suzuki T, Yamamura A, Suzuki H, Kajiwara T, Musha H, Funayama R, Shirota M, Ohnuma S, Nakayama K, Unno M. Hirashima T, et al. Among authors: funayama r. Biochem Biophys Res Commun. 2021 Sep 3;568:37-42. doi: 10.1016/j.bbrc.2021.06.062. Epub 2021 Jun 25. Biochem Biophys Res Commun. 2021. PMID: 34175688
Phenotypic heterogeneity in individuals with MECOM variants in 2 families.
Niihori T, Tanoshima R, Sasahara Y, Sato A, Irie M, Saito-Nanjo Y, Funayama R, Shirota M, Abe T, Okuyama Y, Ishii N, Nakayama K, Kure S, Imaizumi M, Aoki Y. Niihori T, et al. Among authors: funayama r. Blood Adv. 2022 Sep 27;6(18):5257-5261. doi: 10.1182/bloodadvances.2020003812. Blood Adv. 2022. PMID: 35020829 Free PMC article. No abstract available.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: funayama r. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
84 results