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Items: 1 to 20 of 85

1.

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, Tsai EJ, Hilfiker-Kleiner D, Kamiya CA, Mazzarotto F, Cook SA, Halder I, Prasad SK, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly DF, Wittstein IS, Thohan V, Zucker MJ, Liu P, Gorcsan J 3rd, McNamara DM, Seidman CE, Seidman JG, Arany Z; IMAC-2 and IPAC Investigators.

N Engl J Med. 2016 Jan 21;374(3):233-41. doi: 10.1056/NEJMoa1505517. Epub 2016 Jan 6.

PMID:
26735901
2.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.

3.

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.

Marston S, Montgiraud C, Munster AB, Copeland O, Choi O, Dos Remedios C, Messer AE, Ehler E, Knöll R.

PLoS One. 2015 Sep 25;10(9):e0138568. doi: 10.1371/journal.pone.0138568. eCollection 2015.

4.

HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, Gorham J, Yang L, Schafer S, Sheng CC, Haghighi A, Homsy J, Hubner N, Church G, Cook SA, Linke WA, Chen CS, Seidman JG, Seidman CE.

Science. 2015 Aug 28;349(6251):982-6. doi: 10.1126/science.aaa5458.

5.

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenperä P, Koillinen H, Kaartinen M, Nieminen MS, Myllykangas S, Alastalo TP, Koskenvuo JW, Heliö T.

Eur Heart J. 2015 Sep 7;36(34):2327-37. doi: 10.1093/eurheartj/ehv253. Epub 2015 Jun 17.

6.

Titin mutations: the fall of Goliath.

Neiva-Sousa M, Almeida-Coelho J, Falcão-Pires I, Leite-Moreira AF.

Heart Fail Rev. 2015 Sep;20(5):579-88. doi: 10.1007/s10741-015-9495-6. Review.

PMID:
26024954
7.

Structural constraints on the evolution of the collagen fibril: convergence on a 1014-residue COL domain.

Slatter DA, Farndale RW.

Open Biol. 2015 May;5(5). pii: 140220. doi: 10.1098/rsob.140220.

8.

Co-evolution of somatic variation in primary and metastatic colorectal cancer may expand biopsy indications in the molecular era.

Kim R, Schell MJ, Teer JK, Greenawalt DM, Yang M, Yeatman TJ.

PLoS One. 2015 May 14;10(5):e0126670. doi: 10.1371/journal.pone.0126670. eCollection 2015.

9.

Induction of Ankrd1 in Dilated Cardiomyopathy Correlates with the Heart Failure Progression.

Bogomolovas J, Brohm K, Čelutkienė J, Balčiūnaitė G, Bironaitė D, Bukelskienė V, Daunoravičus D, Witt CC, Fielitz J, Grabauskienė V, Labeit S.

Biomed Res Int. 2015;2015:273936. doi: 10.1155/2015/273936. Epub 2015 Apr 16.

10.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A.

J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10.

PMID:
25957634
11.

Hypercalciuria in familial hyperkalemia and hypertension with KLHL3 mutations.

Mayan H, Carmon V, Oleinikov K, London S, Halevy R, Holtzman EJ, Tenenbaum-Rakover Y, Farfel Z, Hanukoglu A.

Nephron. 2015;130(1):59-65. doi: 10.1159/000381563. Epub 2015 Apr 22.

PMID:
25925082
12.

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.

Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.

PMID:
25877298
13.

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

Gramlich M, Pane LS, Zhou Q, Chen Z, Murgia M, Schötterl S, Goedel A, Metzger K, Brade T, Parrotta E, Schaller M, Gerull B, Thierfelder L, Aartsma-Rus A, Labeit S, Atherton JJ, McGaughran J, Harvey RP, Sinnecker D, Mann M, Laugwitz KL, Gawaz MP, Moretti A.

EMBO Mol Med. 2015 Mar 9;7(5):562-76. doi: 10.15252/emmm.201505047.

14.

Biophysical characterization of naturally occurring titin M10 mutations.

Rudloff MW, Woosley AN, Wright NT.

Protein Sci. 2015 Jun;24(6):946-55. doi: 10.1002/pro.2670. Epub 2015 Apr 2.

15.

Insights into alternative splicing of sarcomeric genes in the heart.

Weeland CJ, van den Hoogenhof MM, Beqqali A, Creemers EE.

J Mol Cell Cardiol. 2015 Apr;81:107-13. doi: 10.1016/j.yjmcc.2015.02.008. Epub 2015 Feb 12. Review.

PMID:
25683494
16.

The ARVD/C genetic variants database: 2014 update.

Lazzarini E, Jongbloed JD, Pilichou K, Thiene G, Basso C, Bikker H, Charbon B, Swertz M, van Tintelen JP, van der Zwaag PA.

Hum Mutat. 2015 Apr;36(4):403-10. doi: 10.1002/humu.22765. Epub 2015 Mar 19.

PMID:
25676813
17.

Myocardial stiffness in patients with heart failure and a preserved ejection fraction: contributions of collagen and titin.

Zile MR, Baicu CF, Ikonomidis JS, Stroud RE, Nietert PJ, Bradshaw AD, Slater R, Palmer BM, Van Buren P, Meyer M, Redfield MM, Bull DA, Granzier HL, LeWinter MM.

Circulation. 2015 Apr 7;131(14):1247-59. doi: 10.1161/CIRCULATIONAHA.114.013215. Epub 2015 Jan 30.

18.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA.

Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.

19.

Tackling the achilles' heel of genetic testing.

Watkins H.

Sci Transl Med. 2015 Jan 14;7(270):270fs1. doi: 10.1126/scitranslmed.aaa4276.

PMID:
25589629
20.

Genetic screening for the detection of a rare form of cardiomyopathy in a young patient with recurrent syncopes.

Peters S.

Int J Cardiol. 2015 Mar 1;182:29-30. doi: 10.1016/j.ijcard.2014.12.079. Epub 2014 Dec 24. No abstract available.

PMID:
25576714
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