Pārmantoto neiromuskulāro slimību molekulārie pamati

6533b871fe1ef96bd12d1e37

RESEARCH PRODUCT

Pārmantoto neiromuskulāro slimību molekulārie pamati

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Muskuļu distrofijas ir pagaidām neārstējamas deģeneratīvas muskuļu slimības, kuras izraisa mutācijas muskuļiem-specifiskus proteīnus vai enzīmus kodējošajos gēnos. Maģistra darba mērķis ir uzlabot neiromuskulāro slimību diagnostikas iespējas Latvijā, izveidot slimību noteikšanas algoritmu, ja iespējams, nodrošināt esošo pacientu precīzas diagnozes noteikšanu. Darba izstrādē svarīgākās izmantotās molekulārās bioloģijas metodes ir vairāku veidu sekvenēšana un imunohistoķīmiskās analīzes. Tika izanalizēti kopumā 282 personu DNS paraugi, veikta pilna gēna CAV3, gēnu CAPN3, FKRP un ANO5 noteiktu lokusu tiešā sekvenēšana, pilna eksoma sekvenēšana un izvēlēta gēnu paneļa sekvenēšana. Izveidotais algoritms ir apmierinošs, bet tam nepieciešami uzlabojumi. Iegūtie dati izmantoti pacientu diagnozes apstiprināšanai.

year	journal	country	edition	language
2014-01-01

https://dspace.lu.lv/dspace/handle/7/18951

PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
  - PE2_1Theory of fundamental interactions
  - PE2_2 Phenomenology of fundamental interactions
  - PE2_3Experimental particle physics with accelerators
  - PE2_4Experimental particle physics without accelerators
  - PE2_6Nuclear, hadron and heavy ion physics
  - PE2_8Gas and plasma physics
  - PE2_5Classical and quantum physics of gravitational interactions
  - 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
  - PE2_17Metrology and measurement
  - PE2_16Non-linear physics
  - PE2_12Optics, non-linear optics and nano-optics
  - PE2_13Quantum optics and quantum information
  - PE2_15Thermodynamics
- PE1Mathematics
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  - PE1_8Analysis
  - PE1_7Topology
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  - PE1_11Theoretical aspects of partial differential equations
  - PE1_13Probability
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  - PE1_19Scientific computing and data processing
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  - PE11_6Engineering of carbon materials
  - PE11_7Engineering of metal oxides
  - PE11_8Engineering of alternative established or emergent materials
  - PE11_9Nanomaterials engineering, e.g. nanoparticles, nanoporous materials, 1D & 2D nanomaterials
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LSLife Sciences
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- LS4Physiology in Health, Disease and Ageing
  - LS4_1Organ and tissue physiology and pathophysiology
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  - LS4_3Physiology of ageing
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  - LS4_5Non-hormonal mechanisms of inter-organ and tissue communication
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  - LS4_9Metabolism and metabolic disorders, including diabetes and obesity
  - LS4_10The cardiovascular system and cardiovascular diseases
  - LS4_11Haematopoiesis and blood diseases
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  - LS4_13Other non-communicable diseases (except disorders of the nervous system and immunity-related diseases)
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- LS5Neuroscience and Disorders of the Nervous System
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SHSocial Sciences and Humanities
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