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TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample.
Liu H, Zhao X, Xue G, Chen C, Dong Q, Gao X, Yang L, Chen C. Liu H, et al. Genes Brain Behav. 2023 Feb;22(1):e12835. doi: 10.1111/gbb.12835. Epub 2022 Dec 13. Genes Brain Behav. 2023. PMID: 36511133 Free PMC article.
A retrospective examination of previously published ADHD GWAS results confirmed an un-reported, small but statistically significant effect of TTLL11 on ADHD. The imaging genetics study replicated this association and showed that the TTLL11 gene was associated with r …
A retrospective examination of previously published ADHD GWAS results confirmed an un-reported, small but statistically significant effect o …
Chromosome segregation fidelity requires microtubule polyglutamylation by the cancer downregulated enzyme TTLL11.
Zadra I, Jimenez-Delgado S, Anglada-Girotto M, Segura-Morales C, Compton ZJ, Janke C, Serrano L, Ruprecht V, Vernos I. Zadra I, et al. Nat Commun. 2022 Nov 21;13(1):7147. doi: 10.1038/s41467-022-34909-y. Nat Commun. 2022. PMID: 36414642 Free PMC article.
Here we show that polyglutamylation, a still understudied post-translational modification of spindle MTs, is essential to define their dynamics within the range required for error-free chromosome segregation. We identify TTLL11 as an enzyme driving MT polyglutamylation in …
Here we show that polyglutamylation, a still understudied post-translational modification of spindle MTs, is essential to define their dynam …
Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
Mathieu H, Patten SA, Aragon-Martin JA, Ocaka L, Simpson M, Child A, Moldovan F. Mathieu H, et al. Sci Rep. 2021 May 26;11(1):11026. doi: 10.1038/s41598-021-90155-0. Sci Rep. 2021. PMID: 34040021 Free PMC article.
Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. ...These findings provide evidence that mutations in TTLL11, a ciliary gene, contribute to the pathogenesis of IS....
Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. ...These findings provide evidence th …
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F. Kolvenbach CM, et al. Am J Med Genet A. 2021 Dec;185(12):3784-3792. doi: 10.1002/ajmg.a.62447. Epub 2021 Aug 2. Am J Med Genet A. 2021. PMID: 34338422 Free PMC article.
Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. ...
Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZN …
Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease.
Shrestha S, Wiener HW, Kajimoto H, Srinivasasainagendra V, Ledee D, Chowdhury S, Cui J, Chen JY, Beckley MA, Padilla LA, Dahdah N, Tiwari HK, Portman MA. Shrestha S, et al. Front Immunol. 2024 Jan 8;14:1287094. doi: 10.3389/fimmu.2023.1287094. eCollection 2023. Front Immunol. 2024. PMID: 38259468 Free PMC article.
SKAT analysis demonstrated association in the entire MANIA2, EDN1, SFMBT2, and PPP2R5E genes and segments of CSMD2, LINC01317, HIVEPI, HSP90AB1, and TTLL11 genes. CONCLUSIONS: This WGS study identified multiple predominantly novel understudied genes associated with IVIG re …
SKAT analysis demonstrated association in the entire MANIA2, EDN1, SFMBT2, and PPP2R5E genes and segments of CSMD2, LINC01317, HIVEPI, HSP90 …
Translation of mouse model to human gives insights into periodontitis etiology.
Nashef A, Matthias M, Weiss E, Loos BG, Jepsen S, van der Velde N, Uitterlinden AG, Wellmann J, Berger K, Hoffmann P, Laudes M, Lieb W, Franke A, Dommisch H, Schäfer A, Houri-Haddad Y, Iraqi FA. Nashef A, et al. Sci Rep. 2020 Mar 17;10(1):4892. doi: 10.1038/s41598-020-61819-0. Sci Rep. 2020. PMID: 32184465 Free PMC article.
In addition, human orthologous of candidate genes were tested for their association in a case-controls samples of aggressive (AgP) and chronic (CP) periodontitis (5,095 cases, 9,908 controls). In this analysis, variants at two loci, TTLL11/PTGS1 (rs9695213, P = 5.7710(-5)) …
In addition, human orthologous of candidate genes were tested for their association in a case-controls samples of aggressive (AgP) and chron …
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.
Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J. Fullston T, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):204-14. doi: 10.1002/ajmg.b.31157. Epub 2011 Jan 13. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302349
The t(9;17) (q33.2;q25.3) translocation breakpoint occurs within the open reading frames of KIAA1618 on 17q25.3, and TTLL11 (tyrosine tubulin ligase like 11) on 9q33.2, causing no change in the expression level of KIAA1618 but leading to loss of expression of one TTLL11 …
The t(9;17) (q33.2;q25.3) translocation breakpoint occurs within the open reading frames of KIAA1618 on 17q25.3, and TTLL11 (tyrosine …