ライフサイエンスコーパス: sarcomeric

1 pics include strain-sensing via titin in the sarcomeric A-band as the basis for length-dependent acti

2 ering of myonuclei and an altered pattern of sarcomeric actin and the Z-band-associated actin crossli

3 ic proteins including alpha-actinin-2, alpha-sarcomeric actin and tropomyosin were also present.

4 Interactions of elastic titin with sarcomeric actin filaments are revealed.

5 onic stages due to severe disorganization of sarcomeric actin filaments in body wall muscle.

6 egans, is required for organized assembly of sarcomeric actin filaments in the body wall muscle.

7 ent of the proper length and organization of sarcomeric actin filaments.

8 Fhod potently nucleates both cytoplasmic and sarcomeric actin isoforms.

9 sh caused stunted tail formation and altered sarcomeric actin organization, which phenocopies the los

10 elated myopathy (DRM), results in an altered sarcomeric actin pattern, in affected myofibrillar integ

11 hat expressed cardiomyocytic proteins (alpha-sarcomeric actin) but did not have a mature cardiomyocyt

12 al microscopy showed clusters of small alpha-sarcomeric actin-positive cells expressing Ki67 in the s

13 e stress results in the glutathionylation of sarcomeric actin.

14 ell observations of various modes of dynamic sarcomeric addition (and how these real-time images comp

15 onfocal microscope was used to study dynamic sarcomeric addition in single neonatal CMs in a 3D cultu

16 ogical hypertrophy is the dynamic process of sarcomeric addition, and it has not been observed.

17 ession changes, additional calcium-handling, sarcomeric, adrenergic signaling, and metabolic genes we

18 entification and characterization of a novel sarcomeric AKAP (A-kinase anchoring protein), cardiac tr

19 a novel role for cTnT as a dual-specificity sarcomeric AKAP.

20 beta-synemin was soluble and interacted with sarcomeric alpha-actinin by coimmunoprecipitation, while

21 alignment of actin cytoskeleton, bundle-like sarcomeric alpha-actinin expression, higher pacing beat

22 Sarcomeric alpha-actinin was equally abundant in the EOM

23 MyHC compared with other myosin isoforms and sarcomeric alpha-actinin.

24 In addition, we have demonstrated that the sarcomeric alpha-actinins play a role in the regulation

25 Our results suggest that the disruption of sarcomeric anchoring structures and sarcolemma integrity

26 e crucial role for dystrophin in stabilizing sarcomeric anchoring structures and the sarcolemma.

27 oes not cause wholesale proteolysis of other sarcomeric and actin cytoskeletal proteins in dystrophic

28 is revealed downregulation of mRNAs encoding sarcomeric and calcium handling proteins.

29 regulation of myofiber-specific isoforms of sarcomeric and calcium regulatory proteins that couple a

30 und that CMs in the G2/M phase downregulated sarcomeric and cytoskeletal markers.

31 Mutations in sarcomeric and cytoskeletal proteins are a major cause o

32 ced PABPN1 levels suggested dysregulation of sarcomeric and cytoskeletal proteins.

33 nization with loss of adult CM rod-shape and sarcomeric and intercalated disk structural disorganizat

34 -function embryonic hearts reveal changes in sarcomeric and metabolic gene expression and function th

35 myopathy (DCM) can be caused by mutations in sarcomeric and non-sarcomeric genes.

36 Metabolic, mitochondrial, sarcomeric, and cytoskeletal proteins are susceptible to

37 iated with increased human-specific nuclear, sarcomeric, and gap junction content along with inductio

38 andidate gene that modulates the contractile sarcomeric apparatus.

39 ly, the criteria used by experts to evaluate sarcomeric architecture have not been well-defined.

40 Quantitative analysis of sarcomeric architecture revealed that the change of cont

41 on, as it supports the formation of extended sarcomeric arrays, or myofibrils, within a large volume

42 iated at around E8.0 and was associated with sarcomeric assembly and rapid Ca(2+) transients, underpi

43 We show that sarcomeric assembly is blocked at an early stage in fro

44 lignment and enhances myofibrillogenesis and sarcomeric banding.

45 n early biomechanical defect associated with sarcomeric cardiomyopathies, but the molecular mechanism

46 date within the growing field of iPSC-based sarcomeric cardiomyopathy disease models.

47 XD1 localizes to the nucleus and to striated sarcomeric compartments.

48 n 1 (Ankrd1), a transcriptional cofactor and sarcomeric component, is strongly elevated by wounding a

49 e images obtained from fluorescently labeled sarcomeric components do not contain such illusory struc

50 ntext by other modules of the protein and/or sarcomeric components for its proper functioning.

51 Overall, ACTN3 influences sarcomeric composition in a dose-dependent fashion in mo

52 he cardiomyocyte cytoskeleton, including the sarcomeric contractile apparatus, forms a cohesive netwo

53 These genes seem generally to encode sarcomeric (contractile apparatus) or cytoskeletal prote

54 iomyopathy generally encode cytoskeletal and sarcomeric (contractile apparatus) proteins, although di

55 y-two genotyped individuals in families with sarcomeric DCM underwent clinical evaluation including s

56 type of AF due to a primary, atrial-specific sarcomeric defect.

57 nebulin's C-terminus is necessary for proper sarcomeric development and shows that its loss is suffic

58 issue of one of the mutation carriers showed sarcomeric disarray, myofibrillar degeneration, and incr

59 during diastole resulting in hypertrophy and sarcomeric disarray.

60 ine demonstrated increased susceptibility to sarcomeric disorganization (RBM20: 86 +/- 10.5% versus c

61 capitulate features of PYROXD1 myopathy with sarcomeric disorganization, myofibrillar aggregates, and

62 retinoblastoma protein (Rb), where Rb causes sarcomeric disorganization.

63 ut (KO) mice described previously, including sarcomeric disruption and actin accumulations in skeleta

64 but by Day 7, skeletal muscles showed severe sarcomeric disruptions starting at the Z-line, along wit

65 Because apoptosis and Ca(2+)-related sarcomeric dysfunction are molecular hallmarks of ICM in

66 lized cardiomyocytes demonstrated comparable sarcomeric dysfunction in both patient groups characteri

67 Using this segment, we estimated sarcomeric force development with a worm-like chain mode

68 hypertrophic-restrictive cardiomyopathies as sarcomeric, force generation disease; and arrhythmogenic

69 To investigate the role of TPM1kappa in sarcomeric function, we generated transgenic mice overex

70 of PKC-dependent phosphorylation of cTnI on sarcomeric function, we measured contractile regulation

71 bands; most of the identified proteins were sarcomeric function-related proteins.

72 kx2.5+ cardiomyoblasts showed the absence of sarcomeric gene and the presence of cardiac transcriptio

73 found that Yin Yang 1 (YY1), a repressor of sarcomeric gene expression, is present in CPCs in vivo.

74 Hypertrophic Cardiomyopathy) targeted young sarcomeric gene mutation carriers with early-stage hyper

75 n ; also known as the p.K210del) and the non-sarcomeric gene mutation encoding lamin A/C (LMNAp.R331Q

76 ups have established iPSC lines that contain sarcomeric gene mutations linked to cardiomyopathy in pa

77 y (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating.

78 The presence of sarcomeric gene mutations was associated with increased

79 hies in mice associated with essentially any sarcomeric gene mutations, but also accurately predicts

80 Truncating mutations in the giant sarcomeric gene Titin are the most common type of geneti

81 the pathogenicity of a previously unreported sarcomeric gene variant identified in a pediatric patien

82 results in a dramatic loss of expression of sarcomeric genes and myocardial markers such as bmp4, np

83 e heart disease associated with mutations in sarcomeric genes and with phenotypic overlap with hypert

84 ene-positive patients had 2 rare variants in sarcomeric genes but only in 1 case (0.4%) were both var

85 rther complication, similar mutations within sarcomeric genes can result in differential disease seve

86 ent of key nutrient sensing, ion channel and sarcomeric genes in cardiac ageing.

87 The patient tested negative for six other sarcomeric genes.

88 sfunction often associates with mutations in sarcomeric genes.

89 be caused by mutations in sarcomeric and non-sarcomeric genes.

90 genes; 16 (3.5%) desmosomal genes; 46 (9.5%) sarcomeric genes; 8 (1.6%) ion channel genes; and 11 (2.

91 lcium homeostasis, we used 2 mouse models of sarcomeric HCM (cardiac troponin T R92L and R92W) with d

92 Using a patient's strength of sarcomeric HCM phenotype for variant adjudication can in

93 adolinium enhancement were more extensive in sarcomeric HCM than sarcomere-negative HCM.

94 of discordant variant classifications in the Sarcomeric Human Cardiomyopathy Registry (SHaRe), a cons

95 making up the international SHaRe Registry (Sarcomeric Human Cardiomyopathy Registry) were used to d

96 patients with hypertrophic cardiomyopathy in Sarcomeric Human Cardiomyopathy Registry, 1316 patients

97 lyzed records from the ongoing multinational Sarcomeric Human Cardiomyopathy Registry.

98 and MYBPC3 variants were identified from the Sarcomeric Human Cardiomyopathy Registry.

99 ed in an independent external cohort (SHaRe [Sarcomeric Human Cardiomyopathy Registry], n=285).

100 me is a rare autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), characteri

101 n for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy) targeted young s

102 Finally, we suggest that sarcomeric inhomogeneity, caused by asymmetric thick fil

103 an M-band truncation that eliminates proper sarcomeric integration, but retains all other functional

104 Our results suggest that cMyBP-C acts as a sarcomeric integrator of multiple signaling pathways tha

105 f BTB-Kelch family members in maintenance of sarcomeric integrity in NM.

106 re t-tubules were absent, junctophilin 2 had sarcomeric intracellular distribution.

107 Morpholino-based knockdown of the sarcomeric isoform, actn2, leads to skeletal muscle, car

108 t cofilin-1 serves as an early developmental sarcomeric isoform.

109 ntify functional differences in vivo between sarcomeric isoforms, we employed computational and molec

110 ensitive cytoskeletal and Ca(2+)-insensitive sarcomeric isoforms.

111 Indeed, RBM20 hiPSC-CMs exhibited increased sarcomeric length (RBM20: 1.747 +/- 0.238 microm versus

112 Reduced diastolic sarcomeric length, increased shortening, and prolonged C

113 sly interpreted as aggregates may be in part sarcomeric lesions.

114 nical feedback on calcium homeostasis at the sarcomeric level and 2) the combined effects of mechanic

115 , network contraction is dominated by either sarcomeric-like or buckling mechanisms.

116 ons in mouse skeletal muscle revealed robust sarcomeric localization.

117 hrough sequestration of sAnk1.5/KCTD6 at the sarcomeric M-band, away from the Z-disk-associated culli

118 UNC-89 is a giant polypeptide located at the sarcomeric M-line of Caenorhabditis elegans muscle.

119 MEL-26 and UNC-89 partially colocalize at sarcomeric M-lines.

120 ponin phosphorylation and dysregulates local sarcomeric microdomains in DCM iPSC-CMs.

121 y structural changes in the thin filament, a sarcomeric microstructure.

122 ed the consequences of tafazzin knockdown on sarcomeric mitochondria and cardiac function in mice.

123 cytosolic M-CK (M-CK(-/-)) or both M-CK and sarcomeric mitochondrial CK (M-CK/ScCKmit(-/-)) isoforms

124 Hearts lacking both M-CK and sarcomeric mitochondrial CK have diminished PCr turnover

125 tal and heart muscle diseases rely on direct sarcomeric modulators, which are molecules that can dire

126 years; 50% men) in the exploratory cohort of sarcomeric mutation carriers without left ventricular hy

127 terfering RNA (RNAi) therapeutic for a human sarcomeric mutation in MYL2 causative of restrictive car

128 this study, we used mice bearing a knock-in sarcomeric mutation, which is exhibited in human hypertr

129 the cardiac sarcomere, the pathways by which sarcomeric mutations engender myocyte hypertrophy and el

130 effects of three DCM-causing mutations: the sarcomeric mutations in genes encoding cardiac troponin

131 logical and mechanistic bases to investigate sarcomeric mutations in the pathogenesis of SUDI.

132 n New York Heart Association class >=II, and sarcomeric mutations were not required.

133 nderlying mechanisms of SCD in patients with sarcomeric mutations will also allow us to design new an

134 In patients with HCM with and without sarcomeric mutations, the model-derived median probabili

135 han being a direct consequence of the causal sarcomeric mutations.

136 sis on hypertrophic cardiomyopathy caused by sarcomeric mutations.

137 pe of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations.

138 ssed in striated muscle and brain, encodes a sarcomeric myosin and the intronic microRNA miR-499.

139 The sarcomeric myosin gene, Myh7b, encodes an intronic micro

140 Sarcomeric (myosin) and cytoskeletal proteins (desmin, t

141 The rod of sarcomeric myosins directs thick filament assembly and i

142 The sarcomeric network also provides a well-defined target t

143 Thus, preventing sarcomeric OGT and OGA displacement represents a new pos

144 of VOIs and whether mutations are present in sarcomeric or nonsarcomeric genes.

145 ent mechanism was proposed, but evidence for sarcomeric order is lacking.

146 showed effects similar to wild-type cMLCK on sarcomeric organization and cardiomyocyte cell size.

147 -directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorh

148 me iPSCs are larger, have a higher degree of sarcomeric organization and preferential localization of

149 eracting with alpha-actinin2 did not promote sarcomeric organization and reduced cardiomyocyte cell s

150 e structural information suggesting periodic sarcomeric organization similar to striated muscle.

151 expression of mature cardiomyocyte markers, sarcomeric organization, and exhibition of spontaneous c

152 In the reconstruction volume, myofibrils, sarcomeric organization, and mitochondria can be visuali

153 reveals that cholesterol depletion abrogates sarcomeric organization, changing spacing and alignment

154 (+) cells expressed cardiac myocyte markers, sarcomeric organization, excitation-contraction coupling

155 es induced a loss of actin and alpha-actinin sarcomeric organization, whereas CHC depletion in vivo i

156 eir skeletal muscle, indicative of disrupted sarcomeric organization.

157 (NES)-fused form of Rb caused disruption of sarcomeric organization.

158 mechanism of TNF-alpha-induced disruption of sarcomeric organization.

159 upted cell-cell junctions, with no effect on sarcomeric organization.

160 This mechanism is not based on an ordered sarcomeric organization.

161 linical studies are consistent with a unique sarcomeric origin of the tremor, which we classify as "m

162 lysis of immunolabelled lysosomes suggests a sarcomeric pattern (dominant wavelength 1.80 mum).

163 c attenuation of cheerio leads to CryAB-like sarcomeric phenotypes.

164 We studied if changes in sarcomeric properties in HCM depend on the underlying pr

165 Small molecules binding to the mutant sarcomeric protein complex should be able to mitigate th

166 Encoded MYPN is a sarcomeric protein exclusively localized in striated mus

167 ated muscle Activator of Rho Signaling) is a sarcomeric protein expressed early in cardiac developmen

168 Titin, a sarcomeric protein expressed primarily in striated muscl

169 generate beating PM cells due to inadequate sarcomeric protein expression and organization.

170 We assessed sarcomeric protein expression and phosphorylation and co

171 Embryos that lack Tm2 also showed reduced sarcomeric protein expression, and embryos that expresse

172 We, therefore, assessed sarcomeric protein expression, modification, titin isofo

173 tic due to defects in myotube elongation and sarcomeric protein expression.

174 lly separable events: myotube elongation and sarcomeric protein expression.

175 roblasts, although its incremental effect on sarcomeric protein induction was relatively small.

176 high Mef2c protein levels not only increased sarcomeric protein induction, but also markedly promoted

177 Titin is the first sarcomeric protein linked to arrhythmogenic cardiomyopat

178 reviously unavailable tool to study specific sarcomeric protein mutations in an intact mammalian musc

179 gth-dependent activation, cooperativity, and sarcomeric protein phosphorylation status.

180 yosin binding protein-C (sMyBP-C), a modular sarcomeric protein playing structural and regulatory rol

181 diac myosin-binding protein C (cMyBP-C) is a sarcomeric protein that dynamically regulates thick-fila

182 Nebulin is a sarcomeric protein that when absent (NEB KO mouse) or pr

183 The sarcomeric protein titin is a molecular spring responsib

184 Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopath

185 as exemplified by the isoform switch of the sarcomeric protein titin, which adjusts ventricular fill

186 nt regulator of sarcomeric stiffening is the sarcomeric protein titin.

187 ein complex containing Smyd2, Hsp90, and the sarcomeric protein titin.

188 d surprising developmental functions for the sarcomeric protein Tropomyosin 2 (Tm2).

189 we show that MEL-26 interacts with the giant sarcomeric protein UNC-89 (obscurin).

190 We discuss here the implications of this new sarcomeric protein, some alternate explanations for the

191 yosin 18B (Myo18B) is known to be a critical sarcomeric protein, the function of myosin 18A (Myo18A)

192 CM from patients with a mutation in TNNT2, a sarcomeric protein.

193 hich are molecules that can directly bind to sarcomeric proteins and either inhibit or enhance their

194 netic disorder caused mainly by mutations in sarcomeric proteins and is characterized by maladaptive

195 was beneficial for myogenesis, expression of sarcomeric proteins and proper localization of MURC in s

196 iants in more than 30 genes, mostly encoding sarcomeric proteins and proteins of the cytoskeleton, ha

197 Point mutations in genes encoding sarcomeric proteins are the leading cause of inherited p

198 Moreover, how mutations in different sarcomeric proteins can result in highly similar clinica

199 Mutations in genes coding for sarcomeric proteins cause hypertrophic cardiomyopathy.

200 rent mutations in genes encoding a few dozen sarcomeric proteins cause two reciprocal human disease p

201 function requires a precise stoichiometry of sarcomeric proteins for proper assembly of the contracti

202 To potentially relate the genes encoding the sarcomeric proteins functionally, a hierarchical cluster

203 PKA-dependent phosphorylation of cardiac sarcomeric proteins has been the subject of intense inve

204 shing number of mutations affecting numerous sarcomeric proteins have been described.

205 ctional relationships and the roles of those sarcomeric proteins in animal behaviors remain unclear.

206 t allowed us to determine the position of 27 sarcomeric proteins in Drosophila melanogaster flight mu

207 w these events contribute to misalignment of sarcomeric proteins in presence of DCM TnT-R173W.

208 Increased amounts of other sarcomeric proteins including alpha-actinin-2, alpha-sar

209 rdiomyopathy (FHC) is caused by mutations in sarcomeric proteins including the myosin regulatory ligh

210 by single-point mutations in genes encoding sarcomeric proteins including ventricular myosin regulat

211 Sarcomeric proteins involved in excitation-contraction c

212 Phosphorylation of cardiac sarcomeric proteins plays a major role in the regulation

213 posed for MyBPC, its interactions with other sarcomeric proteins remain obscure.

214 d mechanism controlling its interaction with sarcomeric proteins such as titin, lays a foundation for

215 parallel with cardiomyocytes expressing more sarcomeric proteins that increase the contractile stress

216 ibrosis, cardiac myocyte atrophy and loss of sarcomeric proteins was observed in all hearts that unde

217 Finally, the phosphorylation level of sarcomeric proteins was reduced in PAH patients, which w

218 d kinase for RLC but can phosphorylate other sarcomeric proteins with well-characterized regulatory f

219 al abnormalities occur related to changes in sarcomeric proteins, abnormal calcium handling, and fibr

220 s associated with mutations in cardiomyocyte sarcomeric proteins, including alpha-tropomyosin.

221 In addition, a majority of sarcomeric proteins, including Myosin Heavy Chain (MHC)

222 CM) results from mutations in genes encoding sarcomeric proteins, most often MYBPC3, which encodes ca

223 the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin and filamin C

224 s been linked to mutations in genes encoding sarcomeric proteins, the ability to predict clinical out

225 rdiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding

226 in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of HCM cases

227 onse to familial mutations in genes encoding sarcomeric proteins, which are responsible for contracti

228 hondrial proteins, metabolic regulators, and sarcomeric proteins, with 80% of them also modified in w

229 rolled by posttranslational modifications of sarcomeric proteins.

230 ll affect its ability to interact with other sarcomeric proteins.

231 opathies are mutations in the genes encoding sarcomeric proteins.

232 f which are caused by mutations in genes for sarcomeric proteins.

233 ve mutations have been identified in various sarcomeric proteins.

234 trophy, frequently is caused by mutations in sarcomeric proteins.

235 is involved in degradation of old or damaged sarcomeric proteins.

236 hat is associated with reduced levels of all sarcomeric proteins.

237 activate protein kinases which phosphorylate sarcomeric proteins.

238 dividual fibroblasts is sufficient to induce sarcomeric proteins.

239 r disorder, primarily involving mutations in sarcomeric proteins.

240 lternative splicing regulate the function of sarcomeric proteins; hence, it is critical to study HCM

241 disease is frequently caused by mutations of sarcomeric proteins; however, it is not well understood

242 Strikingly, we discovered that the sarcomeric proteoform alterations in the myocardium of H

243 We observed a complex landscape of sarcomeric proteoforms arising from combinatorial PTMs,

244 n proteomics to comprehensively characterize sarcomeric proteoforms in septal myectomy tissues from H

245 e, by restoring the expression of additional sarcomeric RNAs, and by promoting myoblast fusion.

246 main, appears to be a critical aspect of its sarcomeric roles.

247 elocity of contraction (by motility assay or sarcomeric shortening) at different actin concentrations

248 thematical models to represent a subcellular sarcomeric space in a cardiac myocyte with varying detai

249 ters to reconstruct an in silico subcellular sarcomeric space with spatially distinct cAMP production

250 mediator of excitation-contraction coupling, sarcomeric stability and force generation.

251 An important regulator of sarcomeric stiffening is the sarcomeric protein titin.

252 ascular spheroids exhibited higher levels of sarcomeric striations and higher length-to-width ratios

253 en attributed to truncating mutations in the sarcomeric structural protein titin (TTNtv).

254 lin's C-terminus has been implicated in both sarcomeric structure and function as well as the develop

255 All iPSC-CMs exhibited a reliable sarcomeric structure stained with antibodies against car

256 The sarcomeric structure was intact at birth, but by Day 7,

257 e when evaluated in terms of cell viability, sarcomeric structure, action potentials and conduction v

258 ebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical

259 lture for 120 days to demonstrate definitive sarcomeric structure, cell and matrix deformation, contr

260 e have smaller muscle fibers, a disorganized sarcomeric structure, increased extracellular matrix, an

261 inclusion of MCs facilitated more mature CM sarcomeric structure, preferential alignment, and activa

262 -tropomyosin polymerization and with overall sarcomeric structure.

263 tural analysis was performed to evaluate EOM sarcomeric structure.

264 xpressing GMT were able to develop organized sarcomeric structures and contractility.

265 sarcolemmas were visualized, although normal sarcomeric structures were maintained.

266 )1.3 colocalized with ryanodine receptors in sarcomeric structures while Ca(v)1.2 was largely restric

267 into host myocardium and generated organized sarcomeric structures, and endothelial and smooth muscle

268 rin and obscurin-like-1 (Obsl1)-in different sarcomeric subregions.

269 shown that PKD also phosphorylates multiple sarcomeric substrates to regulate myofilament function.

270 models that permit the systematic tuning of sarcomeric tension generation and calcium fluxing, we id

271 -tropomyosin gene encodes a component of the sarcomeric thin filament.

272 NM is thought to be a disease of sarcomeric thin filaments as six of eight known genes wh

273 Absence of components of the sarcomeric thin filaments causes nemaline myopathy, a le

274 t LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.

275 Thus, Tmod1 per se, rather than total sarcomeric Tmod levels, controls thin filament lengths i

276 muscle types, but the relative abundances of sarcomeric Tmods are muscle specific.

277 escribe the abrupt and marked evolution of a sarcomeric to infiltrative cardiomyopathy, leading to an

278 The sarcomeric tropomodulin (Tmod) isoforms Tmod1 and Tmod4

279 Here we identify the two sarcomeric tropomodulin (Tmod) isoforms, Tmod1 and Tmod4

280 The sarcomeric troponin-tropomyosin complex is a critical me

281 for RBM20-dependent splice variants affected sarcomeric (TTN and LDB3) and calcium (Ca(2+)) handling

282 loss of myofibril organization and defective sarcomeric ultrastructure.

283 bations in the myosin rod can disturb normal sarcomeric uniformity and, like motor domain lesions, wo

284 nin to form a continuous belt of muscle-like sarcomeric units ( approximately 400-600 nm) around each

285 e presence of a pathogenic/likely pathogenic sarcomeric variant, particularly in thin filament genes

286 nce of multiple pathogenic/likely pathogenic sarcomeric variants (hazard ratio [HR], 5.6 [95% CI, 2.3

287 likely to have pathogenic/likely pathogenic sarcomeric variants (HCM patients with a sarcomere mutat

288 s to play a role in both prognosis (multiple sarcomeric variants) and the risk for incident developme

289 +/- 0.194 microm; P < 0.0001) and decreased sarcomeric width (RBM20: 0.791 +/- 0.609 microm versus c

290 dial dysfunctions with disintegration of the sarcomeric Z disk.

291 -infected mandarin fish develop disorganized sarcomeric Z disks in cardiomyocytes.

292 ted mandarin fish develop similar disordered sarcomeric Z disks in cardiomyocytes.

293 Of note, the sarcomeric z-disc also represents a nodal point in cardi

294 both proteins localized predominantly to the sarcomeric Z-disc, where they partially replaced endogen

295 as murine heart tissue located Fbxl22 to the sarcomeric z-disc.

296 ical analysis of the heart revealed aberrant sarcomeric Z-disk and M-band structures, and misalignmen

297 a actinin2, which is highly expressed in the sarcomeric Z-disk with a major structural and functional

298 plays a crucial role in maintaining cardiac sarcomeric Z-disks and endothelial/endocardial cell inte

299 roles of Tln1 in the maintenance of cardiac sarcomeric Z-disks and endothelial/endocardial cell inte

300 on of constructs such as actin filaments and sarcomeric Z-lines.