These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 36977548)

  • 1. The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
    Di Feo MF; Lillback V; Jokela M; McEntagart M; Homfray T; Giorgio E; Casalis Cavalchini GC; Brusco A; Iascone M; Spaccini L; D'Oria P; Savarese M; Udd B
    J Med Genet; 2023 Sep; 60(9):866-873. PubMed ID: 36977548
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
    Rich KA; Moscarello T; Siskind C; Brock G; Tan CA; Vatta M; Winder TL; Elsheikh B; Vicini L; Tucker B; Palettas M; Hershberger RE; Kissel JT; Morales A; Roggenbuck J
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1460. PubMed ID: 32815318
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
    Chauveau C; Bonnemann CG; Julien C; Kho AL; Marks H; Talim B; Maury P; Arne-Bes MC; Uro-Coste E; Alexandrovich A; Vihola A; Schafer S; Kaufmann B; Medne L; Hübner N; Foley AR; Santi M; Udd B; Topaloglu H; Moore SA; Gotthardt M; Samuels ME; Gautel M; Ferreiro A
    Hum Mol Genet; 2014 Feb; 23(4):980-91. PubMed ID: 24105469
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified
    Connell PS; Berkman AM; Souder BM; Pirozzi EJ; Lovin JJ; Rosenfeld JA; Liu P; Tunuguntla H; Allen HD; Denfield SW; Kim JJ; Landstrom AP
    Circ Genom Precis Med; 2021 Feb; 14(1):e003131. PubMed ID: 33226272
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
    Meyer AP; Barnett CL; Myers K; Siskind CE; Moscarello T; Logan R; Roggenbuck J; Rich KA
    J Med Genet; 2024 Mar; 61(4):356-362. PubMed ID: 38050027
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Titin copy number variations associated with dominant inherited phenotypes.
    Perrin A; Métay C; Savarese M; Ben Yaou R; Demidov G; Nelson I; Solé G; Péréon Y; Bertini ES; Fattori F; D'Amico A; Ricci F; Ginsberg M; Seferian A; Boespflug-Tanguy O; Servais L; Chapon F; Lagrange E; Gaudon K; Bloch A; Ghanem R; Guyant-Maréchal L; Johari M; Van Goethem C; Fardeau M; Morales RJ; Genetti CA; Marttila M; Koenig M; Beggs AH; Udd B; Bonne G; Cossée M
    J Med Genet; 2024 Mar; 61(4):369-377. PubMed ID: 37935568
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
    Harris E; Töpf A; Vihola A; Evilä A; Barresi R; Hudson J; Hackman P; Herron B; MacArthur D; Lochmüller H; Bushby K; Udd B; Straub V
    Neuromuscul Disord; 2017 Nov; 27(11):1009-1017. PubMed ID: 28716623
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Atypical phenotypes in titinopathies explained by second titin mutations.
    Evilä A; Vihola A; Sarparanta J; Raheem O; Palmio J; Sandell S; Eymard B; Illa I; Rojas-Garcia R; Hankiewicz K; Negrão L; Löppönen T; Nokelainen P; Kärppä M; Penttilä S; Screen M; Suominen T; Richard I; Hackman P; Udd B
    Ann Neurol; 2014 Feb; 75(2):230-40. PubMed ID: 24395473
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Increasing Role of Titin Mutations in Neuromuscular Disorders.
    Savarese M; Sarparanta J; Vihola A; Udd B; Hackman P
    J Neuromuscul Dis; 2016 Aug; 3(3):293-308. PubMed ID: 27854229
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Titin mutations and muscle disease.
    Kellermayer D; Smith JE; Granzier H
    Pflugers Arch; 2019 May; 471(5):673-682. PubMed ID: 30919088
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
    Perrin A; Juntas Morales R; Rivier F; Cances C; Walther-Louvier U; Van Goethem C; Thèze C; Lacourt D; Pégeot H; Zenagui R; Uro-Coste E; Leboucq N; Malfatti E; Delaby C; Lehmann S; Rigau V; Koenig M; Cossée M
    Neuromuscul Disord; 2020 Nov; 30(11):877-887. PubMed ID: 33127292
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype-phenotype correlations in recessive titinopathies.
    Savarese M; Vihola A; Oates EC; Barresi R; Fiorillo C; Tasca G; Jokela M; Sarkozy A; Luo S; Díaz-Manera J; Ehrstedt C; Rojas-García R; Sáenz A; Muelas N; Lonardo F; Fodstad H; Qureshi T; Johari M; Välipakka S; Luque H; Petiot P; de Munain AL; Pane M; Mercuri E; Torella A; Nigro V; Astrea G; Santorelli FM; Bruno C; Kuntzer T; Illa I; Vílchez JJ; Julien C; Ferreiro A; Malandrini A; Zhao CB; Casar-Borota O; Davis M; Muntoni F; Hackman P; Udd B
    Genet Med; 2020 Dec; 22(12):2029-2040. PubMed ID: 32778822
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The complexity of titin splicing pattern in human adult skeletal muscles.
    Savarese M; Jonson PH; Huovinen S; Paulin L; Auvinen P; Udd B; Hackman P
    Skelet Muscle; 2018 Mar; 8(1):11. PubMed ID: 29598826
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A homozygous TTN gene variant associated with lethal congenital contracture syndrome.
    Chervinsky E; Khayat M; Soltsman S; Habiballa H; Elpeleg O; Shalev S
    Am J Med Genet A; 2018 Apr; 176(4):1001-1005. PubMed ID: 29575618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.
    Ge L; Fu X; Zhang W; Wang D; Wang Z; Yuan Y; Nonaka I; Xiong H
    Neuromuscul Disord; 2019 May; 29(5):350-357. PubMed ID: 31053406
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.
    Li MW; Li F; Cheng ZX; Cheng J; Wu Q; Wang ZX; Wang F; Zhou P
    Prenat Diagn; 2024 Jan; 44(1):81-87. PubMed ID: 38148006
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Titin-truncating variants are associated with heart failure events in patients with left ventricular non-compaction cardiomyopathy.
    Li S; Zhang C; Liu N; Bai H; Hou C; Song L; Pu J
    Clin Cardiol; 2019 May; 42(5):530-535. PubMed ID: 30851055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Making sense of missense variants in TTN-related congenital myopathies.
    Rees M; Nikoopour R; Fukuzawa A; Kho AL; Fernandez-Garcia MA; Wraige E; Bodi I; Deshpande C; Özdemir Ö; Daimagüler HS; Pfuhl M; Holt M; Brandmeier B; Grover S; Fluss J; Longman C; Farrugia ME; Matthews E; Hanna M; Muntoni F; Sarkozy A; Phadke R; Quinlivan R; Oates EC; Schröder R; Thiel C; Reimann J; Voermans N; Erasmus C; Kamsteeg EJ; Konersman C; Grosmann C; McKee S; Tirupathi S; Moore SA; Wilichowski E; Hobbiebrunken E; Dekomien G; Richard I; Van den Bergh P; Domínguez-González C; Cirak S; Ferreiro A; Jungbluth H; Gautel M
    Acta Neuropathol; 2021 Mar; 141(3):431-453. PubMed ID: 33449170
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation.
    Schiabor Barrett KM; Cirulli ET; Bolze A; Rowan C; Elhanan G; Grzymski JJ; Lee W; Washington NL
    Genet Med; 2023 Apr; 25(4):100012. PubMed ID: 36637017
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to
    Fomin A; Gärtner A; Cyganek L; Tiburcy M; Tuleta I; Wellers L; Folsche L; Hobbach AJ; von Frieling-Salewsky M; Unger A; Hucke A; Koser F; Kassner A; Sielemann K; Streckfuß-Bömeke K; Hasenfuss G; Goedel A; Laugwitz KL; Moretti A; Gummert JF; Dos Remedios CG; Reinecke H; Knöll R; van Heesch S; Hubner N; Zimmermann WH; Milting H; Linke WA
    Sci Transl Med; 2021 Nov; 13(618):eabd3079. PubMed ID: 34731013
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.