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2,960 results

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Page 1
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
CONCLUSIONS: Our study identifies truncating TTN mutations as a cause of congenital myopathy that is reported as CNM. Unlike the classic CNM genes that are all involved in excitation-contraction coupling at the triad, TTN encodes the giant sarcomeric protein titin, …
CONCLUSIONS: Our study identifies truncating TTN mutations as a cause of congenital myopathy that is reported as CNM. Unlike the clas …
Titin (TTN): from molecule to modifications, mechanics, and medical significance.
Loescher CM, Hobbach AJ, Linke WA. Loescher CM, et al. Cardiovasc Res. 2022 Nov 10;118(14):2903-2918. doi: 10.1093/cvr/cvab328. Cardiovasc Res. 2022. PMID: 34662387 Free PMC article. Review.
In this context, new insights into the key pathomechanisms of human cardiomyopathy due to a truncation in the titin gene (TTN) are discussed. Along the way, we touch on the potential for titin to be therapeutically targeted to treat acquired or inherited cardiac conditions …
In this context, new insights into the key pathomechanisms of human cardiomyopathy due to a truncation in the titin gene (TTN) are di …
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.
Jolfayi AG, Kohansal E, Ghasemi S, Naderi N, Hesami M, MozafaryBazargany M, Moghadam MH, Fazelifar AF, Maleki M, Kalayinia S. Jolfayi AG, et al. Sci Rep. 2024 Mar 4;14(1):5313. doi: 10.1038/s41598-024-56154-7. Sci Rep. 2024. PMID: 38438525 Free PMC article. Review.
Diagnosing TTN pathogenic variants has important implications for patient management and genetic counseling. ...With the increasing use of next-generation sequencing (NGS), a high number of variants in the TTN gene have been detected in patients with cardiomyopathie …
Diagnosing TTN pathogenic variants has important implications for patient management and genetic counseling. ...With the increasing u …
CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants.
Ghahremani S, Kanwal A, Pettinato A, Ladha F, Legere N, Thakar K, Zhu Y, Tjong H, Wilderman A, Stump WT, Greenberg L, Greenberg MJ, Cotney J, Wei CL, Hinson JT. Ghahremani S, et al. Circulation. 2024 Apr 16;149(16):1285-1297. doi: 10.1161/CIRCULATIONAHA.123.063972. Epub 2024 Jan 18. Circulation. 2024. PMID: 38235591 Free PMC article.
We performed guide RNA screening with custom TTN reporter assays, agarose gel electrophoresis to quantify TTN protein levels and isoforms, and RNA sequencing to identify molecular consequences of TTN activation. ...Increasing TTN protein levels normali …
We performed guide RNA screening with custom TTN reporter assays, agarose gel electrophoresis to quantify TTN protein levels a …
TTN-AS1 as a potential diagnostic and prognostic biomarker for multiple cancers.
Zheng QX, Wang J, Gu XY, Huang CH, Chen C, Hong M, Chen Z. Zheng QX, et al. Biomed Pharmacother. 2021 Mar;135:111169. doi: 10.1016/j.biopha.2020.111169. Epub 2021 Feb 1. Biomed Pharmacother. 2021. PMID: 33433359 Free article. Review.
There is also evidence that some aberrantly regulated lncRNAs function as oncogenes or tumor suppressor genes in various cancers. For example, TTN-AS1 is a lncRNA that binds to titin mRNA (TTN) and has pro-oncogenic effects in many cancers. ...Furthermore, increased …
There is also evidence that some aberrantly regulated lncRNAs function as oncogenes or tumor suppressor genes in various cancers. For exampl …
Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients With Sporadic Dilated Cardiomyopathy.
Xiao L, Li C, Sun Y, Chen Y, Wei H, Hu D, Yu T, Li X, Jin L, Shi L, Marian AJ, Wang DW. Xiao L, et al. Front Cardiovasc Med. 2021 Apr 30;8:657689. doi: 10.3389/fcvm.2021.657689. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 33996946 Free PMC article.
Background: Mutations in the TTN gene are the most common causes of dilated cardiomyopathy (DCM). The clinical significance of TTN gene variants remains inadequately understood. ...Pathogenic TTN missense variants were also enriched in DCM as compared with th …
Background: Mutations in the TTN gene are the most common causes of dilated cardiomyopathy (DCM). The clinical significance of TTN …
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions.
Vatta M, Regalado E, Parfenov M, Swartzlander D, Nagl A, Mannello M, Lewis R, Clemens D, Garcia J, Ellsworth RE, Morales A, Ting YL, Aradhya S. Vatta M, et al. Circ Genom Precis Med. 2025 Apr;18(2):e004982. doi: 10.1161/CIRCGEN.124.004982. Epub 2025 Feb 19. Circ Genom Precis Med. 2025. PMID: 39968638 Free PMC article.
BACKGROUND: Truncating variants (TTNtvs) in the titin (TTN) gene have been associated with cardiomyopathies or arrhythmias (C/A) and autosomal recessive neuromuscular diseases (NM). ...CONCLUSIONS: In the largest single-site cohort of C/A and NM cases with TTNtvs, an enric …
BACKGROUND: Truncating variants (TTNtvs) in the titin (TTN) gene have been associated with cardiomyopathies or arrhythmias (C/A) and …
Prognostic significance of long noncoding RNA TTN-AS1 in various malignancies.
Lin G, Liu X, Cong C, Xu L. Lin G, et al. Cancer Rep (Hoboken). 2023 Oct;6(10):e1876. doi: 10.1002/cnr2.1876. Epub 2023 Aug 2. Cancer Rep (Hoboken). 2023. PMID: 37528740 Free PMC article.
BACKGROUND: Increasing evidence has demonstrated that high TTN-AS1 expression is highly related to poor prognosis in diverse human cancers. However, the findings concerning the prognostic value of TTN-AS1 were inconsistent, as these conclusions were usually drawn wi …
BACKGROUND: Increasing evidence has demonstrated that high TTN-AS1 expression is highly related to poor prognosis in diverse human ca …
Recent Advances in Pathophysiology and Management of Transient Tachypnea of Newborn.
Alhassen Z, Vali P, Guglani L, Lakshminrusimha S, Ryan RM. Alhassen Z, et al. J Perinatol. 2021 Jan;41(1):6-16. doi: 10.1038/s41372-020-0757-3. Epub 2020 Aug 4. J Perinatol. 2021. PMID: 32753712 Free PMC article. Review.
Transient tachypnea of newborn (TTN) results from failure of the newborn to effectively clear the fetal lung fluid soon after birth. ...Recent evidence also suggests that TTN may be associated with wheezing syndromes later in childhood. New imaging modalities such a …
Transient tachypnea of newborn (TTN) results from failure of the newborn to effectively clear the fetal lung fluid soon after birth. …
Truncations of titin causing dilated cardiomyopathy.
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE. Herman DS, et al. N Engl J Med. 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. N Engl J Med. 2012. PMID: 22335739 Free PMC article.
TTN mutations cosegregated with dilated cardiomyopathy in families (combined lod score, 11.1) with high (>95%) observed penetrance after the age of 40 years. ...Defining the functional effects of TTN truncating mutations should improve our understanding of the pa …
TTN mutations cosegregated with dilated cardiomyopathy in families (combined lod score, 11.1) with high (>95%) observed penetrance …
2,960 results