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BioASQ

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<context> In this review, it is argued that the relationship between the accessibility and activity of an enhancer is insufficiently described by simply considering open versus closed chromatin, or active versus inactive enhancers. Instead, recent studies focusing on the quantitative nature of accessibility signal re...
<context> Transcription factors regulating both the identity and patterning of embryonic structures and the development of individual organs are often called master regulatory genes. These genes, as well as other transcription factors, are parts of signaling networks mediating cellular communication, including induct...
<context> Inflammatory myopathies, including polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM), necrotizing myopathy (NM), antisynthetase syndrome (ASS) and overlap myositis (OM), in short myositis, are rare diseases. This review describes the clinical features, diagnosis and treatment for IIMs, ...
<context> Friedreich's ataxia (FA) is a rare, progressive, and degenerative hereditary disorder caused by a deficiency of frataxin protein. This disease is characterised by severe neurological dysfunction and life-threatening cardiomyopathy. Friedreich's ataxia (FRDA) is a rare genetic disorder caused by mutations i...
<context> Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a triplet guanine-adenine-adenine (GAA) repeat expansion in intron 1 of the FXN gene, which leads to decreased levels of the frataxin protein. The classic form of autosomal recessive ataxia, Friedreich's ataxia (FA), i...
<context> Friedreich's ataxia is classically considered a disease with onset in the first or second decade. age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25 and 40 years, r The onset of Friedreich ataxia (FA) was before 1...
<context> Friedreich's ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25-39 years) and very-late-onset (age of onset >40 years) forms do occur rarely. and Friedreich's ataxia is heterogeneous. Late-onset Friedreich's ataxia and very-late-onset Fr...
<context> Kearns Sayre Syndrome (KSS) is a rare mitochondrial disease characterized by a primary dysfunction of the mitochondrial respiratory chain. Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alter...
<context> Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is the most common childhood mitochondrial encephalopathy, accounting for more than 50% of cases in this age group. Its estimated incidence is 1:40,000 - 1:77,000 liveborn infants a year. Its estimated incidence is 1:40,000 - 1:77,000 livebor...
<context> LS is a rare progressive multisystem fatal disorder inherited by autosomal recessive, X-linked and maternal transmission. LS is due to a deficit of various respiratory chain and Krebs cycle enzymes resulting in insufficient production of adenosine triphosphate (ATP), in particular cytochrome-c-oxidase (COX...
<context> Kennedy's disease is nearly exclusively caused by mutations in the androgen receptor encoding gene (AR). Spinal bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion mutation in the androgen receptor (AR) gene, and mutant AR is presumed to act in motoneurons to cause SBMA. spinal and bulbar mus...