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Results by year

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

Year Number of Results
2001 1
2002 1
2006 1
2008 3
2010 3
2011 2
2012 2
2013 1
2014 3
2015 5
2016 1
2017 4
2018 2
2019 2
2020 3
2021 6
2022 3
2023 5
2024 1

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PubMed for id: 96459

46 results

Results by year

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Page 1
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q. van de Beek I, et al. J Hum Genet. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1. Epub 2023 Jan 4. J Hum Genet. 2023. PMID: 36599954
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J, Hagel C, Ballmaier M, Klusmann JH, Niedermayer A, Pannicke U, Enders A, Dückers G, Siepermann K, Hempel J, Schwarz K, Viemann D. Niehues T, et al. Eur J Immunol. 2020 Jul;50(7):1078-1080. doi: 10.1002/eji.201948504. Epub 2020 Apr 20. Eur J Immunol. 2020. PMID: 32181500 Free article.
Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Böttger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM. Glykofridis IE, et al. Elife. 2021 Jan 18;10:e61630. doi: 10.7554/eLife.61630. Elife. 2021. PMID: 33459596 Free PMC article.
Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1.
Malik N, Ferreira BI, Hollstein PE, Curtis SD, Trefts E, Weiser Novak S, Yu J, Gilson R, Hellberg K, Fang L, Sheridan A, Hah N, Shadel GS, Manor U, Shaw RJ. Malik N, et al. Science. 2023 Apr 21;380(6642):eabj5559. doi: 10.1126/science.abj5559. Epub 2023 Apr 21. Science. 2023. PMID: 37079666 Free PMC article.
46 results