Results 111 to 120 of about 7,387 (194)

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C

, 2010
BACKGROUND: Myosin binding protein C (MyBPC) is essential for the structure of the sarcomeres in striated muscle. There is one cardiac specific isoform and two skeletal muscle specific isoforms.
Abdul-Hussein, Saba,, Tulinius, Mar,, Oldfors, Anders,, Tajsharghi, Homa,, Leren, Trond P.,, Brunvand, Leif, Dahl, Hilde M.,, Brunvand, Leif,, Leren, Trond P, Dahl, Hilde M   +9 more
core   +1 more source

The impact of non-cardiomyocyte MYBPC3 expression on the development of hypertrophic cardiomyopathy

Abstract Introduction Hypertrophic Cardiomyopathy (HCM) is a disease defined by the development of left ventricle hypertrophy. One of the most commonly mutated genes in HCM is cardiac myosin binding protein C ( MYBPC3 ).
Nicolas G. Clavere, Jenny H. Kim, Katie P. Letcher, Sejal T. Molakaseema, Kavisha Silva, Soumojit Pal, Jason R. Becker   +6 more
openaire   +2 more sources

MYBPC3 Gene [PDF]

, 2020
openaire   +1 more source

Sensitivity and Specificity of Denaturing HPLC to Detect MYBPC3 Gene Mutations in Hypertrophic Cardiomyopathy

Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and specificity for ...
18487, 18488, 18489, 18483, Hisatome, Ichiro, 18484, 18485, 60211504, 18486, Nindita, Yora, 18482, Bahrudin, Udin, Mizuta, Einosuke, 765, 100000307, Dewi, Ariani Mahayu   +15 more
core   +1 more source

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines

Frontiers in Veterinary Science
IntroductionThe correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population.
Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, Bart J. G. Broeckx   +20 more
doaj   +1 more source

Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations

Stem Cell Research
Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk of developing heart ...
Marta Ribeiro, Joanna Jager, Marta Furtado, Teresa Carvalho, Joaquim M.S. Cabral, Dulce Brito, Maria Carmo-Fonseca, Sandra Martins, Simão Teixeira da Rocha   +8 more
doaj   +1 more source

SUN1 and SUN2 variants with disease-modifying effects in patients with MYBPC3, EMD and LMNA mutations.

, 2014
SUN1 and SUN2 variants with disease-modifying effects in patients with MYBPC3, EMD and LMNA mutations.
Farhana Haque (484805), Kees R. Straatman (512404), Peter Meinke (628441), Elisabetta Mattioli (628442), Marta Columbaro (616186), Howard J. Worman (143387), Manfred Wehnert (628445), Susumu Antoku (628443), Gregg G. Gundersen (91342), Giovanna Lattanzi (628444), Sue Shackleton (628446)   +10 more
core   +1 more source

MYBPC3 wt Allele [PDF]

, 2020
openaire   +1 more source

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy

Abstract Background Familial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. Related mutations contributing to hypercontractility and poor relaxation in HCM have been incompletely understood.
Yuanyuan Zhang, Wenyan Gong, Yusheng Cong, Xingwei Zhang, Zhelan Zheng   +4 more
openaire   +1 more source

Generation of Isogenic iPSC Lines for Studying the Effect of the p.N515del (c.1543_1545delAAC) Variant on MYBPC3 Function and Hypertrophic Cardiomyopathy Pathogenesis

The clinical significance of numerous cardiovascular gene variants remains to be determined. CRISPR/Cas9 allows for the introduction and/or correction of a certain variant in induced pluripotent stem cells (iPSCs).
Julia M. Minina, Suren M. Zakian, Sophia V. Pavlova, Angelina E. Shulgina, Elena V. Dementyeva   +4 more
core   +1 more source