Andres Piirsoo

Effective lung-targeted RNAi in mice with peptide-based delivery of nucleic acid

Kaido Kurrikoff, Krista Freimann, Kadi-Liis Veiman, Elin Madli Peets et autres

We have previously developed efficient peptide-based nucleic acid delivery vectors PF14 and NF55, where we have shown that these vectors preferentially transfect lung tissue upon systemic administration with the nucleic acid. In the current work, we have explored the utilization and potential …

ee, se (code pays fourni par la source)

Formulation of Stable and Homogeneous Cell-Penetrating Peptide NF55 Nanoparticles for Efficient Gene Delivery In Vivo

Krista Freimann, Piret Arukuusk, Kaido Kurrikoff, Ly Pärnaste et autres

Although advances in genomics and experimental gene therapy have opened new possibilities for treating otherwise incurable diseases, the transduction of nucleic acids into the cells and delivery in vivo remain challenging. The high molecular weight and anionic nature of nucleic acids require …

ee, se (code pays fourni par la source)

Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration

Mario Plaas, Kadri Seppa, Riin Reimets, Toomas Jagomäe et autres

Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing loss and a number of other complications. Here, we describe the creation and phenotype of Wfs1 …

ee (code pays fourni par la source)

Ultrastructural changes of small intestine in Whipple disease patient

Andres Piirsoo, Triin Remmel, Anu Kǒiveer

"Ultrastructural changes of small intestine in Whipple disease patient." Ultrastructural Pathology, 41(1), pp. 127–128

ee (code pays fourni par la source)

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik, Ulvi Vaher et autres

The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosine-adenine-guanine repeats, are known to cause three allelic autosomal dominant conditions-episodic …

ee (code pays fourni par la source)

Proliferation of Human Primary Myoblasts Is Associated with Altered Energy Metabolism in Dependence on Ageing In Vivo and In Vitro

Reedik Pääsuke, Margus Eimre, Andres Piirsoo, Nadežda Peet et autres

BACKGROUND. Ageing is associated with suppressed regenerative potential of muscle precursor cells due to decrease of satellite cells and suppressive intramuscular milieu on their activation, associated with ageing-related low-grade inflammation. The aim of the study was to characterize the function of oxidative …

ee (code pays fourni par la source)

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Sander Pajusalu, Inga Talvik, Klari Noormets, Tiina Talvik et autres

ee, de (code pays fourni par la source)

Kroonilise tonsilliidi patogeneesi uuringud kui alus tonsillektoomia objektiivsete kriteeriumite leidmiseks

Andres Piirsoo, Marika Mikelsaar, Mart M. Kull, Priit Kasenõmm

Kroonilise tonsilliidi (KT) ägenemiste sagedust aastas tonsillektoomia näidustusena on täiskasvanute puhul peetud vähe usaldusväärseks. Käesolevas töös uuriti, milliseid anamnestilisi andmeid, neelupiirkonna vaatluse tunnuseid ja laboratoorsete uuringute tulemusi võtavad kõrva-nina-kurguarstid arvesse KTga täiskasvanute suunamisel tonsillektoomiale. Eesti Arst 2005; 84 (8): 531–541

De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals et autres

Epileptic encephalopathies represent a clinically and genetically heterogeneous group of disorders, majority of which are of unknown etiology. We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement …

ee (code pays fourni par la source)

Dilation of human atria: Increased diffusion restrictions for ADP, overexpression of hexokinase 2 and its coupling to oxidative phosphorylation in cardiomyocytes

Mart Roosimaa, Taavi Põdramägi, Lumme Kadaja, Arno Ruusalepp et autres

ee, de (code pays fourni par la source)

Deficiency of the complex I of the mitochondrial respiratory chain but improved adenylate control over succinate-dependent respiration are human gastric cancer-specific phenomena

Marju Puurand, Nadežda Peet, Andres Piirsoo, Margot Peetsalu et autres

ee, fi (code pays fourni par la source)

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children

Kairit Joost, Richard J. Rodenburg, Andres Piirsoo, Lambert van den Heuvel et autres

Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for mitochondrial disorders in childhood are available - Wolfson, Nijmegen and modified Walker criteria. Due to the extreme complexity of mitochondrial disorders in children, …

ee, nl, vn (code pays fourni par la source)