1 | DDHME, PPFIA1, PPFIA2, PPFIA3, PPFIA4
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
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| Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT.
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| Am J Hum Genet Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. 2024
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2 | PPFIA1
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| Liprin-α1 contributes to oncogenic MAPK signaling by counteracting ERK activity.
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| Pehkonen H, Filippou A, Väänänen J, Lindfors I, Vänttinen M, Ianevski P, Mäkelä A, Munne P, Klefström J, Toppila-Salmi S, Grénman R, Hagström J, Mäkitie AA, Karhemo PR, Monni O.
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| Mol Oncol. Jan 24. doi: 10.1002/1878-0261.13593. Epub ahead of print. 2024
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3 | PPFIA1, PPFIA3, PPFIA4
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| Clinicopathological Significances and Prognostic Value of PPFIA4 in Colorectal Cancer.
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| Fu F, Niu R, Zheng M, Yang X, Fan L, Fu W, Zhang S.
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| J Cancer. Jan 1;14(1):24-34. doi: 10.7150/jca.78634 2023
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4 | PPFIA1
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| High PPFIA1 expression promotes cancer survival by suppressing CD8+ T cells in breast cancer: drug discovery and machine learning approach.
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| Chu J, Min KW, Kim DH, Son BK, Kim HS, Jung US, Kwon MJ, Do SI.
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| Breast Cancer. Mar;30(2):259-270. doi: 10.1007/s12282-022-01419-0. Epub 2022 Dec 7. 2023
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5 | KCNAB2, PPFIA1, RORB
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| Human photoreceptor cells from different macular subregions have distinct transcriptional profiles
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| Voigt AP, Mullin NK, Whitmore SS, DeLuca AP, Burnight ER, Liu X, Tucker BA, Scheetz TE, Stone EM, Mullins RF.
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| Hum Mol Genet. Jul 28;30(16):1543-1558. doi: 10.1093/hmg/ddab140 2021
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6 | ALG3, PPFIA1
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| Combined expression and prognostic significance of PPFIA1 and ALG3 in head and neck squamous cell carcinoma
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| Zhou H, Cao T, Li WP, Wu G.
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| Mol Biol Rep. Jun;46(3):2693-2701. doi: 10.1007/s11033-019-04712-y. Epub 2019 Feb 25 2019
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7 | PPFIA1, PPFIA2, PPFIA3, PPFIA4
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| Structural basis of the target-binding mode of the G protein-coupled receptor kinase-interacting protein in the regulation of focal adhesion dynamics
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| Liang M, Xie X, Pan J, Jin G, Yu C, Wei Z.
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| J Biol Chem. Apr 12;294(15):5827-5839. doi: 10.1074/jbc.RA118.006915. Epub 2019 Feb 8. 2019
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8 | CD82, PPFIA1
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| Liprin-α1 modulates cancer cell signaling by transmembrane protein CD82 in adhesive membrane domains linked to cytoskeleton.
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| Pehkonen H, Lento M, von Nandelstadh P, Filippou A, Grénman R, Lehti K, Monni O.
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| Cell Commun Signal. Jul 13;16(1):41. doi: 10.1186/s12964-018-0253-y. 2018
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9 | CDK5, PPFIA1
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| Cdk5-dependent phosphorylation of liprinα1 mediates neuronal activity-dependent synapse development
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| Huang H, Lin X, Liang Z, Zhao T, Du S, Loy MMT, Lai KO, Fu AKY, Ip NY.
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| Proc Natl Acad Sci U S A. Aug 15;114(33):E6992-E7001. doi: 10.1073/pnas.1708240114. Epub 2017 Jul 31. Erratum in: Proc Natl Acad Sci U S A. 2017 Oct 23 2017
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10 | PPFIA1
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| Liprin-α-1 is a novel component of the murine neuromuscular junction and is involved in the organization of the postsynaptic machinery.
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| Bernadzki KM, Gawor M, Pęziński M, Mazurek P, Niewiadomski P, Rędowicz MJ, Prószyński TJ.
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| Sci Rep. Aug 22;7(1):9116. doi: 10.1038/s41598-017-09590-7. 2017
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11 | PPFIA1
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| Role of Liprins in the Regulation of Tumor Cell Motility and Invasion2016; PMID:
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| Chiaretti S, de Curtis I.
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| Curr Cancer Drug Targets. 16(3):238-48. doi: 10.2174/156800961603160206124103. 2016
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12 | PHLDB1, PHLDB2, PPFIA1
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| Liprin-α1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.
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| Astro V, Chiaretti S, Magistrati E, Fivaz M, de Curtis I.
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| J Cell Sci 127(Pt 17):3862-76. doi: 10.1242/jcs.155663. Epub 2014 Jun 30.
2014
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13 | KIF7, PPFIA1, PPP2CA
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| The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.
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| Liu YC, Couzens AL, Deshwar AR, B McBroom-Cerajewski LD, Zhang X, Puviindran V, Scott IC, Gingras AC, Hui CC, Angers S.
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| Sci Signal. Dec 9;7(355):ra117. doi: 10.1126/scisignal.2005608. 2014
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14 | CCND1, PPFIA1
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| PPFIA1 and CCND1 are frequently coamplified in breast cancer.
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| Dancau AM, Wuth L, Waschow M, Holst F, Krohn A, Choschzick M, Terracciano L, Politis S, Kurtz S, Lebeau A, Friedrichs K, Wencke K, Monni O, Simon R.
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| Genes Chromosomes Cancer 49(1):1-8.PMID: 19787783 2010
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15 | PPFIA1, PPFIA2, PPFIA3, PPFIA4
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| The mouse and human Liprin-alpha family of scaffolding proteins: genomic organization, expression profiling and regulation by alternative splicing.
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| Zürner M, Schoch S.
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| Genomics 93(3):243-53. Epub 2008 Dec 13. 2009
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16 | PPFIA1
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| Amplification and overexpression of PPFIA1, a putative 11q13 invasion suppressor gene, in head and neck squamous cell carcinoma.
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| Tan KD, Zhu Y, Tan HK, Rajasegaran V, Aggarwal A, Wu J, Wu HY, Hwang J, Lim DT, Soo KC, Tan P.
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| Genes Chromosomes Cancer 47(4):353-62. 2008
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17 | PPFIA1, PPFIA2, PPFIA3, PPFIA4
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| Identification and characterization of human PPFIA4 gene in silico.
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| Katoh M, Katoh M.
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| Int J Mol Med 12(6):1009-14. 2003
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18 | PPFIA1
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| The LAR transmembrane protein tyrosine phosphatase and a coiled-coil LAR-interacting protein co-localize at focal adhesions.
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| Serra-Pages C, Kedersha NL, Fazikas L, Medley Q, Debant A, Streuli M.
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| EMBO J 14(12):2827-38. 1995
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