Results 51 to 60 of about 132 (72)
Discovery of New Regulatory Proteins and Mechanisms in Muscle Biology and Disease
, 2014 In an effort to discover new regulators of muscle function, we identified a novel muscle-specific protein, Klhl40. Genetic deletion of Klhl40 in mice results in a nemaline myopathy-like phenotype with disruption of sarcomere function causing neonatal ...
Garg, Ankit
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Whole exome sequencing in patients with congenital myopathy
, 2014 Introduction: Congenital myopathies (CM) are a heterogeneous group of muscle diseases presenting at birth or early infancy, characterised by muscle weakness and specific morphological changes in the muscle biopsy.
Johann Haukur Sigurðsson (563770) +8 more
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Modelling myopathies in zebrafish
, 2017 Muscle diseases, or myopathies, are a group of rare congenital diseases that severely incapacitate the patients and in some cases are fatal. Most of these diseases result from mutations in genes that code for proteins of the sarcomere, the contractile ...
Rodrigues Vaz, Raquel (3759244)
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Mutation-specific effects on thin filament length in thin filament myopathy
, 2016 OBJECTIVE: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament.
Voermans, N.C. +22 more
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Congenital Myopathies are a Group of Phenotypically and Genetically Heterogeneous Diseases
, 2016 Congenital myopathies are a group of childhood-onset neuromuscular disorder diagnosed by specific clinical, pathological, and genetic features. With the phenotypic, genotypic, and pathological heterogeneity of these specific conditions, diagnostic ...
Ng, G +15 more
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The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8
, 2019 Background: Autosomal recessive or compound heterozygous mutation in KLHL40 is one of the causes of severe nemaline myopathy (nemaline myopathy 8, phenotype MIM number 615348). This severe form of nemaline myopathy is characterized by congenital fetal
Yu, YN +13 more
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GENETIC ANALYSIS OF NEUROMUSCULAR DISEASES USING DIFFERENT GENETIC MODELS [PDF]
, 2018 次世代シーケンサーの登場によって，ゲノム医学は長足の進歩を遂げ，疾患責任遺伝子の同定が加速した．遺伝性疾患を考えるとき，その遺伝学的モデルは，単一遺伝子疾患から，rare variant disease，あるいは多因子疾患まで幅広く，加えて疾患特異性を考慮する必要がある．本研究は，最新のゲノム技術を駆使し，様々な遺伝学的モデルを想定して神経筋疾患の遺伝学的解析を行ったものであるが，本稿では，もやもや病発症に関わるRNF213遺伝子のR4810K多型の臨床遺伝学的関連 ...
ミヤタケ, サトコ, 宮武, 聡子
core
Modelling myopathies in zebrafish
, 2016 Muscle diseases, or myopathies, are a group of rare congenital diseases that severely incapacitate the patients and in some cases are fatal. Most of these diseases result from mutations in genes that code for proteins of the sarcomere, the contractile ...
Rodrigues Vaz, Raquel
core
Clenbuterol (CB), a β2-adrenergic receptor agonist, is known to increase skeletal muscle mass. However, because its effects are influenced by treatment duration, dose, and β-adrenergic receptor responsiveness, it remains unclear how extended intermittent
Yuri Kiyofuji +3 more
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Figure 4—figure supplement 3. KLHL40 and KLHL41 show distinct partner specificity.
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