نتایج جستجو برای: pank2 gene
تعداد نتایج: 1141396 فیلتر نتایج به سال:
Pantothenate kinase-associated neurodegeneration is a form of neurodegeneration with brain iron accumulation, characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus. Formerly referred to as Hallervorden-Spatz syndrome, the disorder was renamed pantothenate kinase-associated neurodegeneration after discovery of the causative gene, PANK2. Although th...
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism. PKAN is caused by biallelic PAN...
Huntington's disease like phenotype: new data from Brazil and what we know between heaven and earth.
Editorial Huntington's disease like phenotype New data from Brazil and what we know between heaven and earth. Huntington's disease (HD) is an auto-somal dominant neurodegenerative disorder , characterized by involuntary movements , predominantly chorea, associated to behavioral and cognitive impairment 1,2. HD is caused by expansion of a CAG repeat in the coding region of the IT15 gene located ...
Mutations in nuclear genes associated with defective coenzyme A biosynthesis have been identified as responsible for some forms of neurodegeneration with brain iron accumulation (NBIA), namely PKAN and CoPAN. PKAN are defined by mutations in PANK2, encoding the pantothenate kinase 2 enzyme, that account for about 50% of cases of NBIA, whereas mutations in CoA synthase COASY have been recently r...
تنش دمای پایین یکی از مهم ترین عوامل محیطی است که عملکرد گیاهان را محدود می نماید. شبکه وسیعی از ژن های مختلف در تنظیم تحمل گیاه به این تنش نقش ایفا می نمایند. در این تحقیق، نخست 921 عدد از ژن های مذکور از تحقیقات و مقالات معتبر علمی استخراج گردید و سپس به منظور شناسایی ژن های مشابه با آنها در ژنوم کامل دو گیاه سیب (malus domestica)و انگور (vitis vinifera)، توالی آمینو اسیدی این ژن ها در گیاه م...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید