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*  Hypertrophic cardiomyopathy
... at Curlie (based on DMOZ) GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... Familial hypertrophic cardiomyopathy is inherited as an autosomal dominant trait and is attributed to mutations in one of a ... Kittleson M, Meurs K, Munro M, Kittleson J, Liu S, Pion P, Towbin J (1999). "Familial hypertrophic cardiomyopathy in Maine coon ... "A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy". Hum Mol Genet. 14 ...
*  MYL2
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview MYL2 Info with links in the Cell Migration ... MLC-2v dephosphorylation has also been reported in human patients carrying a rare form of familial hypertrophic cardiomyopathy ... Mutations in MYL2 have been associated with familial hypertrophic cardiomyopathy (FHC). Ten FHC mutations have been identified ... "Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, ...
*  TNNI3
cTnI mutations account for approximately 5% of familial hypertrophic cardiomyopathy cases and to date, more than 20 myopathic ... GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview. ... "Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties ... "Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy". Nature Genetics. 16 (4): 379-82. doi: ...
*  MYH6
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview. ... "A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI- ... "A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene". Cell. 62 (5 ... "A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation". Cell. 62 ...
*  Telethonin
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview. ... hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy. Telethonin is a 19.0 kDa protein composed of ... hypertrophic cardiomyopathy, dilated cardiomyopathy, idiopathic cardiomyopathy, and gastrointestinal smooth muscle-related ... "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of the American College of Cardiology. ...
*  Troponin
Mutations in the cardiac troponin subunits can result in cardiomyopathies, including familial hypertrophic cardiomyopathy. An ... such as dilated cardiomyopathy, hypertrophic cardiomyopathy or (left) ventricular hypertrophy, peripartum cardiomyopathy, ... Takotsubo cardiomyopathy, or infiltrative disorders such as cardiac amyloidosis. Heart injury with increased troponins also ... Troponins can also indicate several forms of cardiomyopathy, ...
*  TNNT2
Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with restrictive and dilated ... including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The table below ... "Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy". ... "Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy ...
*  Caveolin 3
Other mutations in Caveolin causes Long QT Syndrome or familial hypertrophic cardiomyopathy, although the role of Cav3 in Long ... "Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy". Biochem ... Mutations have been identified in the caveolin-3 gene that result in cardiomyopathies. Several of these mutations influence ... Overexpression of caveolin-3 leads to the development of cardiomyopathy, resulting in degeneration of cardiac tissue and ...
*  PRKAG2
1995). "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3". J. Clin. ... 2001). "Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence ... GeneReviews/NCBI/NIH/UW entry on Familial Hypertrophic Cardiomyopathy Overview Molecular and Cellular Biology portal. ... 2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome". N. Engl. J. Med. 344 (24): 1823-31. ...
*  Myosin binding protein C, cardiac
Gruen M, Gautel M (Feb 1999). "Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the ... Bonne G, Carrier L, Richard P, Hainque B, Schwartz K (Sep 1998). "Familial hypertrophic cardiomyopathy: from mutations to ... Mass spectrometry characterization of MYBPC3 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... "Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene". ...
*  MYH7
Mass spectrometry characterization of MYH7 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... "A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation". Cell. 62 ... were the first to identify the causative mutation Arg403Gln for hypertrophic cardiomyopathy (HCM) in the MYH7 gene. Studies ... Jaaskelainen P, Miettinen R, Karkkainen P, Toivonen L, Laakso M, Kuusisto J (2004). "Genetics of hypertrophic cardiomyopathy in ...
*  MYL3
Mutations in MYL3 have been identified as a cause of familial hypertrophic cardiomyopathy, and associated with a mid-left ... Mass spectrometry characterization of MYL3 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... "Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South ... expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy". ...
*  UC Davis School of Veterinary Medicine
A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Meurs KM, Sanchez ... hypertrophic cardiomyopathy (HCM)). "UC Davis School of Veterinary Medicine." UC Davis School of Veterinary Medicine. Web. 02 ... 1987 Feb 13;235(4790):790-3. Myocardial failure in cats associated with low plasma taurine: a reversible cardiomyopathy. Pion ... taurine deficiency as the cause of dilated cardiomyopathy (DCM) in domestic cats, and the first genetic cause of a heart ...
*  Locus heterogeneity
Other examples are hypertrophic cardiomyopathy, osteogenesis imperfecta, Familial hypercholesterolemia. Allelic heterogeneity ...
*  MYOZ2
... have been shown to be causal for rare forms of familial hypertrophic cardiomyopathy. GRCh38: Ensembl release 89: ... "Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy". Circulation Research. 100 (6): 766-8. doi:10.1161/01.RES. ... in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy". ... as well as a blunted induction of the fetal hypertrophic gene program and significantly reduced expression of calcineurin- ...
*  TPM1
... spectrometry characterization of human TPM1 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... Mutations in TPM1 have been associated with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy. HCM mutations tend to ... 2004). "Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary ...
*  MYL9
2005). "The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force ...
*  CSRP3
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview Human CSRP3 genome location and CSRP3 gene ... and hypertrophic cardiomyopathy (HCM) [e.g. L44P, S46R, S54R/E55G, C58G, R64C, Y66C, Q91L, K42/fs165], while the most frequent ... CSRP3 mutations cause hypertrophic cardiomyopathy". Human Molecular Genetics. 17 (18): 2753-65. doi:10.1093/hmg/ddn160. PMID ... "Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy". Circulation. 107 (10): 1390-5. ...
*  CBS domain
Mutations in the gamma subunit of the AMPK enzyme have been shown to lead to familial hypertrophic cardiomyopathy with Wolff- ...
*  1000 Genomes Project
Gaucher disease (mutations in the GBA gene), Crohn's disease (mutation of NOD2) and familial hypertrophic cardiomyopathy ( ...
*  MCM10
Abnormal myocardial contractile regulation mechanism in familial hypertrophic and dilated cardiomyopathies--functional analysis ...
*  ACTC1
... spectrometry characterization of human ACTC1 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... Oct 1999). "Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy". Am J Med Genet. 86 ... The E101K missense mutation has been associated with Hypertrophic Cardiomyopathy and Left Ventricular Noncompaction. Another ... "Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy". Journal of Molecular and Cellular ...
*  Titin
... familial dilated cardiomyopathy 9, hypertrophic cardiomyopathy and tibial muscular dystrophy. Further research also suggests ... GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview GeneReviews/NCBI/NIH/UW entry on Udd Distal ... "Familial dilated cardiomyopathy locus maps to chromosome 2q31". Circulation. 99 (8): 1022-6. doi:10.1161/01.cir.99.8.1022. PMID ... Truncating mutations in dilated cardiomyopathy patients are most commonly found in the A region; although truncations in the ...
*  Troponin C type 1
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS ... "Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy". Circulation. 121 (20): 2169-2175. doi:10.1161/ ... Familial dilated cardiomyopathy (DCM) is a rare cause of systolic heart failure (prevalence 1:5000). A wider range of mutations ... Semsarian C, Ingles J, Maron MS, Maron BJ (Mar 2015). "New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy". ...
*  Actinin alpha 2
... spectrometry characterization of human ACTN2 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... Mutations in ACTN2 are associated with hypertrophic cardiomyopathy, as well as dilated cardiomyopathy and endocardial ... "Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis". Journal of the American College of ... "Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis". ...
*  List of diseases (C)
... familial dilated Cardiomyopathy due to anthracyclines Cardiomyopathy hearing loss type t RNA lysine gene mutation Hypertrophic ... cardiomyopathy: familial Cardiomyopathy hypogonadism metabolic anomalies Cardiomyopathy spherocytosis Cardiomyopathy, fatal ... Cardiomyopathy dilated with conduction defect type 1, Cardiomyopathy dilated with conduction defect type 2, Cardiomyopathy, ... progressive familial intrahepatic 1 Cholestasis, progressive familial intrahepatic 2 Cholestasis, progressive familial ...