Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats
نویسندگان
چکیده
منابع مشابه
Somatic JAK2 mutations and their tumor phenotypes.
Activating JAK2 mutations can arise from chromosomal translocations or point mutations/deletions/insertions. The former result in JAK2 fusion proteins that always involve the JAK2 kinase domain (JH1), in association with an oligomerization domain from one of several partner proteins, which promotes constitutive JAK2 phosphorylation and signal activation. Tumor phenotypes associated with JAK2 fu...
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Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na(v)1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome. We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syn...
متن کاملin translation: translators on their work and what it means
کتاب در باب ترجمه، اثر استر آلن و سوزان برنوفسکی منتشر شده در ماه می 2013 توسط نشریه کلمبیا است. نویسندگان در این کتاب به بررسی 18 مترجم با در نظر گرفتن نقش آثاری که این مترجمان ترجمه کرده اند میپردازند. کتاب به دو بخش تقسیم میشود: " مترجم در جهان" و " کار مترجم" این دو بخش مقالات همیشگی ترجمه و موقعیت خاص ادبیات بیگانه در جهان وسیع امروزی را مورد خطاب قرار میدهد. در این کتاب مقالات متعددی از ن...
Familial migraine with vertigo: no mutations found in CACNA1A.
We searched for mutations in the voltage-gated calcium channel gene, CACNA1A, in nine propositi of families with migraine headaches and episodic vertigo inherited in an autosomal dominant pattern. All 47 exons and flanking introns in CACNA1A were subjected to single-strand conformation polymorphism analysis of polymerase chain reaction-amplified genomic DNA. Exons with aberrantly migrating frag...
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BACKGROUND Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and N...
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ژورنال
عنوان ژورنال: Neurochemistry International
سال: 2020
ISSN: 0197-0186
DOI: 10.1016/j.neuint.2020.104859