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Items: 1 to 20 of 105

1.

Germline cytoskeletal and extra-cellular matrix-related single nucleotide variations associated with distinct cancer survival rates.

Falasiri S, Rahman T, Tu YN, Fawcett TJ, Blanck G.

Gene. 2018 Aug 30;669:91-98. doi: 10.1016/j.gene.2018.05.037. Epub 2018 May 17.

PMID:
29778426
2.

CTLA-4 methylation regulates the pathogenesis of myasthenia gravis and the expression of related cytokines.

Fang TK, Yan CJ, Du J.

Medicine (Baltimore). 2018 May;97(18):e0620. doi: 10.1097/MD.0000000000010620.

3.

Circular DNA elements of chromosomal origin are common in healthy human somatic tissue.

Møller HD, Mohiyuddin M, Prada-Luengo I, Sailani MR, Halling JF, Plomgaard P, Maretty L, Hansen AJ, Snyder MP, Pilegaard H, Lam HYK, Regenberg B.

Nat Commun. 2018 Mar 14;9(1):1069. doi: 10.1038/s41467-018-03369-8.

4.

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H.

PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017.

5.

Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

König E, Volpato CB, Motta BM, Blankenburg H, Picard A, Pramstaller P, Casella M, Rauhe W, Pompilio G, Meraviglia V, Domingues FS, Sommariva E, Rossini A.

BMC Med Genet. 2017 Dec 8;18(1):145. doi: 10.1186/s12881-017-0503-7.

6.

The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei.

Lyu Y, Chen J, Xu H.

Gene. 2018 Feb 5;642:159-162. doi: 10.1016/j.gene.2017.11.001. Epub 2017 Nov 3.

PMID:
29109008
7.

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA.

J Am Coll Cardiol. 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063.

8.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

9.

Biological Phenotypes of Heart Failure With Preserved Ejection Fraction.

Lewis GA, Schelbert EB, Williams SG, Cunnington C, Ahmed F, McDonagh TA, Miller CA.

J Am Coll Cardiol. 2017 Oct 24;70(17):2186-2200. doi: 10.1016/j.jacc.2017.09.006. Review.

PMID:
29050567
10.

A 'new lease of life': FnCpf1 possesses DNA cleavage activity for genome editing in human cells.

Tu M, Lin L, Cheng Y, He X, Sun H, Xie H, Fu J, Liu C, Li J, Chen D, Xi H, Xue D, Liu Q, Zhao J, Gao C, Song Z, Qu J, Gu F.

Nucleic Acids Res. 2017 Nov 2;45(19):11295-11304. doi: 10.1093/nar/gkx783.

11.

Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Streckfuss-Bömeke K, Tiburcy M, Fomin A, Luo X, Li W, Fischer C, Özcelik C, Perrot A, Sossalla S, Haas J, Vidal RO, Rebs S, Khadjeh S, Meder B, Bonn S, Linke WA, Zimmermann WH, Hasenfuss G, Guan K.

J Mol Cell Cardiol. 2017 Dec;113:9-21. doi: 10.1016/j.yjmcc.2017.09.008. Epub 2017 Sep 21.

12.

Between Disease-Causing and an Innocent Bystander: The Role of Titin as a Modifier in Hypertrophic Cardiomyopathy.

Gerull B.

Can J Cardiol. 2017 Oct;33(10):1217-1220. doi: 10.1016/j.cjca.2017.07.010. Epub 2017 Jul 21. No abstract available.

PMID:
28866075
13.

Neonatal complex arrhythmias possibly related to a TTN mutation.

Evans WN, Acherman RJ, Law IH, Von Bergen NH, Samson RA, Restrepo H.

J Neonatal Perinatal Med. 2017;10(3):343-346. doi: 10.3233/NPM-16120.

PMID:
28854511
14.

Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy.

Zhang C, Zhang H, Wu G, Luo X, Zhang C, Zou Y, Wang H, Hui R, Wang J, Song L.

Can J Cardiol. 2017 Oct;33(10):1292-1297. doi: 10.1016/j.cjca.2017.05.020. Epub 2017 Jun 8.

PMID:
28822653
15.

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.

Wu L, Xiang B, Zhang H, He X, Shih C, Chen X, Cai T.

Neuromuscul Disord. 2017 Nov;27(11):1018-1022. doi: 10.1016/j.nmd.2017.06.558. Epub 2017 Jul 6.

PMID:
28818390
16.

Total tanshinones exhibits anti-inflammatory effects through blocking TLR4 dimerization via the MyD88 pathway.

Gao H, Liu X, Sun W, Kang N, Liu Y, Yang S, Xu QM, Wang C, Chen X.

Cell Death Dis. 2017 Aug 17;8(8):e3004. doi: 10.1038/cddis.2017.389.

17.

Intricate and Cell Type-Specific Populations of Endogenous Circular DNA (eccDNA) in Caenorhabditis elegans and Homo sapiens.

Shoura MJ, Gabdank I, Hansen L, Merker J, Gotlib J, Levene SD, Fire AZ.

G3 (Bethesda). 2017 Oct 5;7(10):3295-3303. doi: 10.1534/g3.117.300141.

18.

CX3CR1 knockout aggravates Coxsackievirus B3-induced myocarditis.

Müller I, Pappritz K, Savvatis K, Puhl K, Dong F, El-Shafeey M, Hamdani N, Hamann I, Noutsias M, Infante-Duarte C, Linke WA, Van Linthout S, Tschöpe C.

PLoS One. 2017 Aug 11;12(8):e0182643. doi: 10.1371/journal.pone.0182643. eCollection 2017.

19.

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

Mendes de Almeida R, Tavares J, Martins S, Carvalho T, Enguita FJ, Brito D, Carmo-Fonseca M, Lopes LR.

PLoS One. 2017 Aug 10;12(8):e0182946. doi: 10.1371/journal.pone.0182946. eCollection 2017.

20.

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Brugada J, Fernandez-Aviles F, Brugada R.

PLoS One. 2017 Aug 3;12(8):e0181465. doi: 10.1371/journal.pone.0181465. eCollection 2017.

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