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Ar MYBPC1 saistītā miogēnā tremora dzīvnieku modeļsistēmas

2021

Nesenie atklājumi ģenētiski pārmantoto muskuļu slimību laukā parādīja, ka jauni varianti c.739T>C (p.Y247H) un c.742G>A (p.E248K) MYBPC1 gēnā, kas kodē lēno skeleta miozīnu saistošo proteīnu C, izraisa muskuļu miopātiju ar miogēnu tremoru. Bakalaura darba mērķis ir veikt MYBPC1 gēna patogēno variantu p.Y247H un p.E248K funkcionālo analīzi, izmantojot peļu knock-in modeļus. Darba izstrādē izmantotās metodes iekļauj transkriptomu bibliotēku sagatavošanu un analīzi, digitālo pilienu PCR un dzīvnieku modeļa funkcionālo izpēti. Darba gaitā tika analizēti divi peļu knock-in modeļi: vienam tika veikta gēnu ekspresijas analīze skeleta muskuļos, otram veikta sākotnējā funkcionālā analīze. Veiktie pē…

sarkomēra proteīnisMyBP-Cpeļu modeļsistēmagēnu ekspresijaBioloģijamiogēnais tremors

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PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
  - PE2_1Theory of fundamental interactions
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  - PE2_7Nuclear and particle astrophysics
  - PE2_9 Electromagnetism
  - PE2_10Atomic, molecular physics
  - PE2_11Ultra-cold atoms and molecules
  - PE2_18Equilibrium and non-equilibrium statistical mechanics: steady states and dynamics
  - PE2_14Lasers, ultra-short lasers and laser physics
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  - PE2_16Non-linear physics
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  - PE2_13Quantum optics and quantum information
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- PE1Mathematics
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  - PE11_10Soft materials engineering, e.g. gels, foams, colloids
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  - PE11_12Semi-conducting and magnetic materials engineering
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  - PE11_14Computational methods for materials engineering
LSLife Sciences
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- LS2Integrative Biology: from Genes and Genomes to Systems
  - LS2_1Genetics
  - LS2_3Epigenetics
  - LS2_2Gene editing
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- LS4Physiology in Health, Disease and Ageing
  - LS4_1Organ and tissue physiology and pathophysiology
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- LS3Cell Biology, Development, Stem Cells and Regeneration
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  - LS3_17Theoretical modelling in cellular, developmental and regenerative biology
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SHSocial Sciences and Humanities
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