Results 41 to 50 of about 13,305 (193)

SNPs within the beta myosin heavy chain (MYH7) and the pyruvate kinase muscle (PKM2) genes in horse

Italian Journal of Animal Science, 2010
Two highly expressed skeletal muscle genes (the MYH7 gene encoding the myosin heavy chain slow/β-cardiac isoform and the PKM2 gene encoding the pyruvate kinase muscle isoforms) were investigated with the objective to identify DNA markers in horses ...
Vincenzo Russo, Luca Fontanesi, Emilio Scotti, Roberta Davoli, Stefania Dall'Olio   +4 more
doaj   +1 more source

Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy

CJC Open, 2022
Background: Heart failure is a hallmark of severe hypertrophic cardiomyopathy and dilated cardiomyopathy (DCM). Several mutations in the β-MYH7 gene lead to hypertrophic cardiomyopathy.
Deepa Selvi Rani, PhD, Archana Vijaya Kumar, PhD, Pratibha Nallari, PhD, Katakam Sampathkumar, PhD, Perundurai S. Dhandapany, PhD, Calambur Narasimhan, MD, Andiappan Rathinavel, MD, Kumarasamy Thangaraj, PhD   +7 more
doaj   +1 more source

MYH7 mutation and non-isolated noncompaction

Journal of Cardiovascular Surgery and Heart Diseases, 2019
In a recent article, Hirano et al. reported about Ebstein’s anomaly, non-compaction/left ventricular hypertrabeculation (LVHT), and ventricular septal defect (VSD) in a single patient carrying a MYH7 mutation [1]. We have the following comments and concerns.
Josef Finsterer, Claudia Stöllberger
openaire   +2 more sources

Reported nTREs are dispensable for repression of the MYH7 promoter by T3/TR.

, 2014
(A) Schematic representation of the rat MYH7 promoter and reported nTREs. Transcription start site is indicated as +1. The reported nTREs in the rat MYH7 gene (upper panel) and their corresponding sequences of the human MYH7 gene (middle panel) are ...
Hiroyuki Iwaki (335243), Akio Matsushita (335242), Keiko Ishizuka (335246), Hirotoshi Nakamura (335250), Shigekazu Sasaki (335241), Hiroko Misawa (335240), Hideyuki Matsunaga (335244), Kenji Ohba (255704), Takafumi Suda (509192), Yutaka Oki (308231)   +9 more
core   +1 more source

MYH7 Mutations in Restrictive Cardiomyopathy

JACC: Advances
Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by impaired ventricular filling and relaxation, with preserved systolic function. This study investigates the genetic basis of RCM and its impact on clinical outcomes, particularly heart transplantation (HTx).The aim of the study was to identify genetic variations associated with ...
Zhao, Yiqi, Liu, Shun, Mo, Han, Hua, Xiumeng, Chen, Xiao, Zhang, Yue, Wang, Weiteng, Zhao, Qian, Song, Jiangping   +8 more
openaire   +2 more sources

Figure 5: MYH7 E848G Induces Systolic Dysfunction in Isogenic Line

, 2019
(A) Schematic diagram of Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR-Associated Protein 9 system–mediated homozygous MYH7 knockout (KO) in a normal hiPSC line. (B) Sequence and chromatogram (homozygote) of the start region of MYH7 KO
Kai-Chun Yang (6820559), Astrid Breitbart (485783), Robert Boucek (6820574), Joy Xu (6820568), Alex Jiao (1320198), Peter Hofsteen (740091), Cody Schopf (6820571), Lil Pabon (247327), Charles E. Murry (127925), Michael Regnier (76653), Willem J. De Lange (6820562), Hans Reinecke (247331), Maria V. Razumova (541798), Deok-Ho Kim (168490), J. Carter Ralphe (5895431), Akiko Futakuchi-Tsuchida (6820565)   +15 more
core   +1 more source

Relationship between transcript and protein expression changes for cardiac MYH7 and ANP.

, 2013
Data are shown for myocardial: A)Myh7 and MYH7 transcript and protein levels, respectively; and B)Nppa and ANP transcript and protein levels, respectively (n = 6 per group).
Louise E. See Hoe (449027), Kevin J. Ashton (449023), Grant Williams-Pritchard (449025), Can J. Kiessling (449026), Amanda Tupicoff (449024), John P. Headrick (449028), Jason N. Peart (358403)   +6 more
core   +1 more source

Familial hypertrophic cardiomyopathy with midventricular obstruction associated with MYH7, FHOD3 and BAG3 gene variants: a case report

Российский кардиологический журнал
Introduction. Hypertrophic cardiomyopathy (HCM) with midventricular obstruction (MVO) represents a subgroup of increased risk of adverse outcomes. It contributes to development of apical aneurysm, which is an anatomical substrate for the development of ...
S. E. Andreeva, M. O. Marusova, M. A. Bortsova, A. A. Kostareva   +3 more
doaj   +1 more source

A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy

Frontiers in Bioscience-Scholar
Background: Hypertrophic cardiomyopathy is the most frequent autosomal dominant disease, yet due to genetic heterogeneity, incomplete penetrance, and phenotype variability, the prognosis of the disease course in pathogenic variant carriers remains an ...
Maria V. Golubenko, Elena N. Pavlyukova, Ramil R. Salakhov, Oksana A. Makeeva, Konstantin V. Puzyrev, Oleg S. Glotov, Valery P. Puzyrev, Maria S. Nazarenko   +7 more
doaj   +1 more source

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

BMC Medical Genetics, 2017
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh   +6 more
doaj   +1 more source