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2000 1
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Page 1
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
These three genes encode components of three different ciliary complexes; FUZ, which encodes a planar cell polarity complex molecule; TRAF3IP1, which encodes an anterograde ciliary transport protein; and LBR, which encodes a nuclear membrane protein with sterol reductase a …
These three genes encode components of three different ciliary complexes; FUZ, which encodes a planar cell polarity complex molecule; TRA …
Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.
Berbari NF, Kin NW, Sharma N, Michaud EJ, Kesterson RA, Yoder BK. Berbari NF, et al. Dev Biol. 2011 Dec 1;360(1):66-76. doi: 10.1016/j.ydbio.2011.09.001. Epub 2011 Sep 16. Dev Biol. 2011. PMID: 21945076 Free PMC article.
Similar localization data has now been reported for mammalian Traf3ip1. This raises the possibility that Traf3ip1 has an evolutionarily conserved role in mammalian ciliogenesis in addition to its previously indicated functions. To evaluate this possibility, a Tra …
Similar localization data has now been reported for mammalian Traf3ip1. This raises the possibility that Traf3ip1 has an evolu …
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S. Bizet AA, et al. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666. Nat Commun. 2015. PMID: 26487268 Free PMC article.
Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthis …
Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified …
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q. Wang J, et al. Am J Ophthalmol. 2023 Aug;252:188-204. doi: 10.1016/j.ajo.2023.03.025. Epub 2023 Mar 27. Am J Ophthalmol. 2023. PMID: 36990420
METHODS: Patients with biallelic variants in SLSN-associated genes, including NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8, WDR19, CEP164, and TRAF3IP1, were recruited. Ocular phenotypes and nephrology medical records were collected for comprehensive analysis. ...
METHODS: Patients with biallelic variants in SLSN-associated genes, including NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8, WDR19, CEP1 …
Multiple interactions of the dynein-2 complex with the IFT-B complex are required for effective intraflagellar transport.
Hiyamizu S, Qiu H, Vuolo L, Stevenson NL, Shak C, Heesom KJ, Hamada Y, Tsurumi Y, Chiba S, Katoh Y, Stephens DJ, Nakayama K. Hiyamizu S, et al. J Cell Sci. 2023 Mar 1;136(5):jcs260462. doi: 10.1242/jcs.260462. Epub 2023 Feb 7. J Cell Sci. 2023. PMID: 36632779 Free PMC article.
In particular, WDR60 (also known as DYNC2I1) and the DYNC2H1-DYNC2LI1 dimer from dynein-2, and IFT54 (also known as TRAF3IP1) and IFT57 from IFT-B contribute to the dynein-2-IFT-B interactions. ...
In particular, WDR60 (also known as DYNC2I1) and the DYNC2H1-DYNC2LI1 dimer from dynein-2, and IFT54 (also known as TRAF3IP1) and IFT …
Caenorhabditis elegans DYF-11, an orthologue of mammalian Traf3ip1/MIP-T3, is required for sensory cilia formation.
Kunitomo H, Iino Y. Kunitomo H, et al. Genes Cells. 2008 Jan;13(1):13-25. doi: 10.1111/j.1365-2443.2007.01147.x. Genes Cells. 2008. PMID: 18173744 Free article.
Domain analysis using DYF-11 deletion constructs revealed that the coiled-coil region is required for proper localization and ciliogenesis. We further show that Traf3ip1/MIP-T3, the mammalian orthologue of DYF-11, localizes to cilia in the MDCK renal epithelial cells....
Domain analysis using DYF-11 deletion constructs revealed that the coiled-coil region is required for proper localization and ciliogenesis. …
Characterization of the TRAF3IP1 gene in Yesso scallop (Patinopecten yessoensis) and its expression in response to bacterial challenge.
Cheng J, Wang J, Wang S, Li R, Ning X, Xing Q, Ma X, Zhang L, Wang S, Hu X, Bao Z. Cheng J, et al. Genes Genet Syst. 2017 Apr 4;91(5):267-276. doi: 10.1266/ggs.16-00019. Epub 2016 Dec 19. Genes Genet Syst. 2017. PMID: 27990012 Free article.
In this study, to better understand the functions of TRAFs in innate immune responses, we identified and characterized the first bivalve TRAF3IP1 gene, PyTRAF3IP1, from Yesso scallop (Patinopecten yessoensis), one of the most important mollusk species for aquaculture. ...T …
In this study, to better understand the functions of TRAFs in innate immune responses, we identified and characterized the first bivalve …
Transcriptome Modifications in Porcine Adipocytes via Toll-Like Receptors Activation.
Igata M, Islam MA, Tada A, Takagi M, Kober AKMH, Albarracin L, Aso H, Ikeda-Ohtsubo W, Miyazawa K, Yoda K, He F, Takahashi H, Villena J, Kitazawa H. Igata M, et al. Front Immunol. 2019 May 29;10:1180. doi: 10.3389/fimmu.2019.01180. eCollection 2019. Front Immunol. 2019. PMID: 31191544 Free PMC article.
Differential expression analysis revealed that EGR1, NOTCH1, NOS2, TNFAIP3, TRAF3IP1, INSR, CXCR4, PPARA, MAPK10, and C3 are the top 10 commonly altered genes of TLRs induced transcriptional modification of pMA. ...
Differential expression analysis revealed that EGR1, NOTCH1, NOS2, TNFAIP3, TRAF3IP1, INSR, CXCR4, PPARA, MAPK10, and C3 are the top …
Characterization of mouse IFT complex B.
Follit JA, Xu F, Keady BT, Pazour GJ. Follit JA, et al. Cell Motil Cytoskeleton. 2009 Aug;66(8):457-68. doi: 10.1002/cm.20346. Cell Motil Cytoskeleton. 2009. PMID: 19253336 Free PMC article.
IFT20 is the only complex B protein that localizes to the Golgi apparatus. However, overexpression of IFT54/Traf3ip1, the mouse orthologue of Dyf-11/Elipsa, displaces IFT20 from the Golgi apparatus. ...
IFT20 is the only complex B protein that localizes to the Golgi apparatus. However, overexpression of IFT54/Traf3ip1, the mouse ortho …
Analysis of iris surface features in populations of diverse ancestry.
Edwards M, Cha D, Krithika S, Johnson M, Parra EJ. Edwards M, et al. R Soc Open Sci. 2016 Jan 13;3(1):150424. doi: 10.1098/rsos.150424. eCollection 2016 Jan. R Soc Open Sci. 2016. PMID: 26909168 Free PMC article.
The genetic marker SEMA3A rs10235789 was significantly associated with Fuchs' crypt grade in the European, East Asian and South Asian samples and a borderline association between TRAF3IP1 rs3739070 and contraction furrow grade was found in the European sample. ...
The genetic marker SEMA3A rs10235789 was significantly associated with Fuchs' crypt grade in the European, East Asian and South Asian sample …
26 results