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[A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine]

https://arctichealth.org/en/permalink/ahliterature33908
Source
Tsitol Genet. 1997 Nov-Dec;31(6):75-81
Publication Type
Article
Author
A Iu Ekshiian
L A Livshits
A M Bychkova
N A Afanas'eva
I R Bariliak
Source
Tsitol Genet. 1997 Nov-Dec;31(6):75-81
Language
Russian
Publication Type
Article
Keywords
Adult
Child
Chimera - genetics
DNA - genetics - isolation & purification
DNA Primers
Electrophoresis, Agar Gel
English Abstract
Exons - genetics
Gene Deletion
Heterozygote
Homozygote
Humans
Molecular Biology
Polymerase Chain Reaction - methods
Research Support, Non-U.S. Gov't
Risk factors
Spinal Muscular Atrophies of Childhood - genetics
Ukraine
Abstract
The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.
PubMed ID
9591348 View in PubMed
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[Identification of E-4031-sensitive potassium current component in murine P19 embryonic carcinoma cell line differentiated in cardiomyocytes]

https://arctichealth.org/en/permalink/ahliterature16401
Source
Fiziol Zh. 2006;52(1):49-61
Publication Type
Article
Date
2006
Author
H V Sotkis
P M Lazarenko
O I Boldyriev
O I Voitychuk
V Ie Dosenko
L V Tumanovs'ka
Ia M Shuba
Source
Fiziol Zh. 2006;52(1):49-61
Date
2006
Language
Ukrainian
Publication Type
Article
Keywords
Actins - metabolism
Animals
Calcium Channels - metabolism
Carcinoma, Embryonal
Cell Differentiation - drug effects - physiology
Cell Line, Tumor
Electrophoresis, Agar Gel
English Abstract
Ether-A-Go-Go Potassium Channels - metabolism
Membranes
Mice
Microscopy, Electron
Mitochondria, Heart - metabolism - physiology
Myocytes, Cardiac - cytology - metabolism - ultrastructure
Myosins - metabolism
Patch-Clamp Techniques
Piperidines - pharmacology
Polymerase Chain Reaction
Potassium Channel Blockers - pharmacology
Pyridines - pharmacology
Sodium Channels - metabolism
Abstract
Pluripotent mouse P19 embryonic carcinoma cells represent a convenient in vitro model for studying various aspects of cardiac differentiation. Here by using whole-cell patch-clamp recording we have identified the rapid delayed rectifier K+ current, I(Kr) in P19 cell induced to differentiate into cardiac phenotype by DMSO (1%). Cardiac differentiation was confirmed by the appearance of spontaneously beating cells, their morphological features, ultrastructural clusterization of mitochondria around contraction elements, expression of cardiac actin mRNAs and MLC2v, and by the presence of inward sodium and calcium currents. I(Kr) was isolated based on the sensitivity to the specific blocker, E-4031, which at concentration of 1 MM blocked more than 50% of the total outward K+ current. However, in contrast to I(Kr) in native cardiac myocytes and in heterologous systems expressing I(Kr)-carrying ERG1 potassium channel, E-4031-sensitive K+ current in cardiac-like P19 cells lacked characteristic inward rectification, suggesting specific regulation and/or subunit composition of endogenous ERG -based channel in these cells. Establishing the reason(s) for this phenomenon will advance the understanding of the mechanisms of I(Kr)-channel rectification. Cardiac-differentiated P19 cells might also be useful for studying pharmacological modulation of I(Kr), which is recognized target for cardiotoxic side effects of numerous drugs.
PubMed ID
16553298 View in PubMed
Less detail