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Page 1
Expanding the clinical spectrum of MTTF mutations.
Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A. Barcia G, et al. Mol Genet Metab Rep. 2019 Aug 13;21:100501. doi: 10.1016/j.ymgmr.2019.100501. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31463198 Free PMC article.
We report on a de novo m.586G > A MTTF mutation in a 14 yrs old boy with non-progressive muscle weakness, myalgia, normal brain MRI, normal schooling and absent central nervous system involvement. The same m.586G > A MTTF mutation has been previously reported …
We report on a de novo m.586G > A MTTF mutation in a 14 yrs old boy with non-progressive muscle weakness, myalgia, normal brain MR …
MERRF.
Velez-Bartolomei F, Lee C, Enns G. Velez-Bartolomei F, et al. 2003 Jun 3 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jun 3 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301693 Free Books & Documents. Review.
PaNAC089 is a membrane-tethered transcription factor (MTTF) that modulates flowering, chlorophyll breakdown and trichome initiation.
Shao C, Cai F, Bao Z, Zhang Y, Shi G, Zhou Z, Chen X, Li Y, Bao M, Zhang J. Shao C, et al. Funct Plant Biol. 2022 Mar;49(4):392-404. doi: 10.1071/FP21320. Funct Plant Biol. 2022. PMID: 35209991
In this study, we identified a gene PaNAC089 from London plane tree, which encodes a membrane-tethered transcription factor (MTTF) belonging to the NAC (NAM, ATAF1/2, CUC2) transcription factor family. ...Consistent with this, luciferase (LUC) transient expression assays a …
In this study, we identified a gene PaNAC089 from London plane tree, which encodes a membrane-tethered transcription factor (MTTF) be …
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP, de Baaij JHF. Schlingmann KP, et al. Curr Opin Nephrol Hypertens. 2022 Sep 1;31(5):508-515. doi: 10.1097/MNH.0000000000000818. Epub 2022 Jul 11. Curr Opin Nephrol Hypertens. 2022. PMID: 35894287 Free PMC article. Review.
Bioprosthetic Aortic Valve Durability: A Meta-Regression of Published Studies.
Wang M, Furnary AP, Li HF, Grunkemeier GL. Wang M, et al. Ann Thorac Surg. 2017 Sep;104(3):1080-1087. doi: 10.1016/j.athoracsur.2017.02.011. Epub 2017 May 9. Ann Thorac Surg. 2017. PMID: 28499651 Review.
Meta-regression found MTTF was associated with the patient's age, publication year, SVD definition, and valve type. Sorin pericardial valves had significantly lower risk-adjusted MTTF (higher SVD risk), and there were no significant differences in MTTF among …
Meta-regression found MTTF was associated with the patient's age, publication year, SVD definition, and valve type. Sorin pericardial …
Mitochondrial transcription terminator family members mTTF and mTerf5 have opposing roles in coordination of mtDNA synthesis.
Jõers P, Lewis SC, Fukuoh A, Parhiala M, Ellilä S, Holt IJ, Jacobs HT. Jõers P, et al. PLoS Genet. 2013;9(9):e1003800. doi: 10.1371/journal.pgen.1003800. Epub 2013 Sep 19. PLoS Genet. 2013. PMID: 24068965 Free PMC article.
We have investigated the roles in this process of the mTERF (mitochondrial transcription termination factor) family members mTTF and mTerf5 in Drosophila melanogaster. The two mTTF binding sites in Drosophila mtDNA, which also bind mTerf5, were found to coincide wit …
We have investigated the roles in this process of the mTERF (mitochondrial transcription termination factor) family members mTTF and …
Different domains of the murine RNA polymerase I-specific termination factor mTTF-I serve distinct functions in transcription termination.
Evers R, Smid A, Rudloff U, Lottspeich F, Grummt I. Evers R, et al. EMBO J. 1995 Mar 15;14(6):1248-56. doi: 10.1002/j.1460-2075.1995.tb07108.x. EMBO J. 1995. PMID: 7720715 Free PMC article.
Termination of mouse ribosomal gene transcription by RNA polymerase I (Pol I) requires the specific interaction of a DNA binding protein, mTTF-I, with an 18 bp sequence element located downstream of the rRNA coding region. ...Significantly, the C-terminal region of mTTF …
Termination of mouse ribosomal gene transcription by RNA polymerase I (Pol I) requires the specific interaction of a DNA binding protein, …
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.
Real-world Outcomes in Advanced Urothelial Cancer and the Role of Neutrophil to Lymphocyte Ratio.
Yip SM, Kaiser J, Li H, North S, Heng DYC, Alimohamed NS. Yip SM, et al. Clin Genitourin Cancer. 2018 Jun;16(3):e637-e644. doi: 10.1016/j.clgc.2017.12.009. Epub 2017 Dec 29. Clin Genitourin Cancer. 2018. PMID: 29395946
RESULTS: We evaluated 233 patients. In the first-line, the ORR was 25%. mTTF and mOS were 6.9 months and 9.0 months, respectively. Low baseline NLR was significantly associated with improved 8.3-month mTTF, in contrast to 5.8 months for patients with high NLR (P = . …
RESULTS: We evaluated 233 patients. In the first-line, the ORR was 25%. mTTF and mOS were 6.9 months and 9.0 months, respectively. Lo …
Real-world clinical outcomes and cost estimates of metastatic castration-resistant prostate cancer treatment: does sequencing of taxanes and androgen receptor-targeted agents matter?
Pereira-Salgado A, Anton A, Franchini F, Mahar RK, Kwan EM, Wong S, Shapiro J, Weickhardt A, Azad AA, Spain L, Gunjur A, Torres J, Parente P, Parnis F, Goh J, Steer C, Brown S, Gibbs P, Tran B, IJzerman M. Pereira-Salgado A, et al. Expert Rev Pharmacoecon Outcomes Res. 2023 Feb;23(2):231-239. doi: 10.1080/14737167.2023.2161048. Epub 2022 Dec 28. Expert Rev Pharmacoecon Outcomes Res. 2023. PMID: 36541133
In first-line, ARTA cost an additional $13,244 per mTTF month compared to DOC. In second-line, ARTA cost $6726 per mTTF month. The DOC-ARTA sequence saved $2139 per mTTF compared to ARTA-DOC, though not statistically significant. ...
In first-line, ARTA cost an additional $13,244 per mTTF month compared to DOC. In second-line, ARTA cost $6726 per mTTF month. …
78 results