Abstract：
:Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group of disorders are CMT type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A and HNPP are predominantly caused by a 1.5 Mb duplication and deletion in the chromosomal region 17p11.2, respectively, and less frequently by other mutations in the peripheral myelin protein 22 (PMP22) gene. Despite being relatively common diseases, they haven't been previously studied in the Slovak population. Therefore, the aim of this study was to identify the spectrum and frequency of PMP22 mutations in the Slovak population by screening 119 families with CMT and 2 families with HNPP for causative mutations in this gene. The copy number determination of PMP22 resulted in the detection of CMT1A duplication in 40 families and the detection of HNPP deletion in 7 families, 6 of which were originally diagnosed as CMT. Consequent mutation screening of families without duplication or deletion using dHPLC and sequencing identified 6 single base changes (3 unpublished to date), from which only c.327C>A (Cys109X) present in one family was provably causative. These results confirm the leading role of PMP22 mutation analysis in the differential diagnosis of CMT and show that the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population.
journal_name
Gen Physiol Biophysjournal_title
General physiology and biophysicsauthors
Resko P,Radvansky J,Odnogova Z,Baldovic M,Minarik G,Polakova H,Palffy R,Kadasi Ldoi
10.4149/gpb_2011_04_379subject
Has Abstractpub_date
2011-12-01 00:00:00pages
379-88issue
4eissn
0231-5882issn
1338-4325journal_volume
30pub_type
杂志文章abstract：:Overconsumption of fructose increases the risk of nonalcoholic fatty liver disease (NAFLD), obesity and metabolic syndrome. NAFLD is currently one of the most common etiologies of chronic liver disease worldwide. The aim of the present study is to evaluate the hepatoprotective potential of zingerone against fructose-e...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2015041
更新日期：2016-04-01 00:00:00
abstract：:The dynamics of a bioreactor with a variable volume and an active solute flux based on the thermodynamics of irreversible processes and stability analysis was studied. The active solute flux may control both the bioreactor volume and the hydrostatic pressure as well as the concentration of the solute inside the cell i...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1988-02-01 00:00:00
abstract：:Previously detected βsp and γ1sp dielectric relaxations on the spectrin-based membrane skeleton (MS) of human red blood cells (RBCs) have been shown sensitive to the attachment of MS to the lipid-protein membrane. Such relaxations were now detected on the MS of mammal (rat, horse, bovine, sheep and goat) and "unstrain...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2020034
更新日期：2020-11-01 00:00:00
abstract：:The substantia gelatinosa of the trigeminal subnucleus caudalis has been considered to be an essential location for the transference of orofacial sensory signals. The co-localization of inhibitory and excitatory neurotransmitters in the same substantia gelatinosa (SG) neurons has demonstrated their essential part in t...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2019027
更新日期：2019-09-01 00:00:00
abstract：:Effects of six thiol reagents with different physico-chemical properties were tested on the Na+-dependent 45Ca2+ transport into the rat brain microsomal membrane vesicles. The mercurials p-chlormercuribenzoate and Mersalyl effectively inhibited 45Ca2+ uptake with IC50 values in the order of 10(-4) mol X l-1 in the med...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1987-04-01 00:00:00
abstract：:Limited numbers of studies include research of microvibration therapy in experimental models. We examined effects of chronic vibroacustic-microvibration treatment on haemodynamics and anti-oxidative defense in experimental hypertension. Study was performed on chronically treated hypertensive and normotensive Wistar ra...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2014033
更新日期：2015-01-01 00:00:00
abstract：:Kinase-targeted therapy is a new and promising approach to disease treatment. However, some kinase inhibitors have been observed to cause an off-target adverse risk for skeletal system by influencing the growth of osteoblasts. It is known that the proliferation and differentiation of osteoblasts are essentially regula...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2018030
更新日期：2019-01-01 00:00:00
abstract：:It is well known that in vitro storage lesions lead to membrane dysfunction and decreased number of functional erythrocytes. As erythrocytes get older, in storage media as well as in peripheral circulation, they undergo a variety of biochemical changes. In our study, the erythrocytes with different age groups in citra...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2016001
更新日期：2016-07-01 00:00:00
abstract：:The effects of pentoxifylline (PTX) on intracellular accumulation of doxorobicin (DOX), DOX cytotoxicity and expression of Pgp in multidrug resistant L1210/VCR cell line were investigated. PTX (100 mg/l) was able to enhance the DOX accumulation in resistant cells. The maximum intracellular levels of DOX were reached a...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：:In the present study effects of a new local anaesthetics, pentacaine (trans-2-pyrolidinocyclohexylester of 3-pentyloxyphenylcarbamic acid), and of some chemically related compounds on rat hepatic adenylate cyclase activity were studied under various experimental conditions. As compared with tetracaine, the local anaes...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1985-10-01 00:00:00
abstract：:The effects of alamethicin on the membrane barrier function of rabbit erythrocytes, human platelets and sarcoplasmic reticulum vesicles, as well as on that of brain microsomes and liver mitochondria of the rat were compared. An upset of the barrier function was observed for plasma membranes of brain microsomes as well...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1992-02-01 00:00:00
abstract：:The effects of different parts of extract from medicinal plant Conyza canadensis, used to control bleeding, on human blood platelet aggregation in vitro were investigated. Aqueous extract of Conyza c. from young or old plants, glycoconjugate part, polysaccharide part and aglycon part at the concentrations above 0.75 m...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：2007-06-01 00:00:00
abstract：:The effects of both chronic hypoxia and acute intermittent hypoxia (AIH) on cardiovascular system are unclear. We designed this study to develop a rabbit model of hypertension by exposure to chronic hypobaric hypoxia (CHH) and to investigate the effects of AIH on hypertensive rabbits. Present study was performed in 13...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2013070
更新日期：2014-01-01 00:00:00
abstract：:Recent studies have revealed the dipeptidyl peptidase IV (DPP IV) enzymatic activity of CD26 antigen. In this paper, the possible identity of DPP IV and CD26 expression in phenotypically defined T-ALL has been examined. The combination of enzyme cytochemistry and immunocytochemistry was used. The correlation between t...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1999-12-01 00:00:00
abstract：:The hormone leptin, by binding to hypothalamic receptors, suppresses food intake and decreases body adiposity. Leptin receptors are also widely expressed in extra-hypothalamic areas such as hippocampus, amygdala and cerebellum, where leptin modulates synaptic transmission. Here we show that a defective leptin receptor...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2013056
更新日期：2014-01-01 00:00:00
abstract：:Nucleosome sliding and nucleosome digestion are two main ways for regulating gene transcription. We constructed three characteristic parameters (CP) based on the information of CG0, CG1 and CG2 motifs, and used these parameters to analyze the sliding trend of -1 and +1 nucleosomes around TSS of genes with NFR in yeast...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2020002
更新日期：2020-05-01 00:00:00
abstract：:Culturing the fresh-water alga Hydrodictyon reticulatum for 9 days in the presence of 0.2 and 0.4 mmol/l Ba2+ increases the membrane potential about twice and the plasmalemma resistance 5-10 times without having any significant effect on the cell contents of water and Na+, K+ and Cl- ions. While in control cells the m...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1996-04-01 00:00:00
abstract：:The human pituitary tumor-transforming gene-1 (hPTTG1) has been found to be overexpressed in various cancers. Accumulated evidences implicate that some of protein kinases can specifically recognize two PXXP motifs at hPTTG1 C-terminus through their Src homology (SH3) domain and then phosphorylate the protein by their ...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2016035
更新日期：2017-01-01 00:00:00
abstract：:Aiming at making the Münch model more adequate to the biological reality we introduce certain modifications and complements. Considering the model within the framework of so-called integrated system of long-distance water transport in plants we present a quantitative analysis based on the Kedem-Katchalsky formalism. A...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：2001-06-01 00:00:00
abstract：:Semiserial sections of lung capillaries of seven rabbits were examined for megakaryocytes. Triads of serial sections of each lobe were examined, and megakaryocyte counts per cm2 were determined. Median megakaryocyte count was determined for each lobe. The lobal values were used to calculate the was determined for each...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1987-08-01 00:00:00
abstract：:Electron spin resonance spectroscopy (ESR) was used to study the effects of amphiphilic amines of the carbamate, amide, and ester type and amine oxide on the photosynthetic system of spinach chloroplasts. The ESR signal II connected to the photosynthetic center PS II donor side was observed to diminish in the presence...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1990-12-01 00:00:00
abstract：:A patient with a strongly lesioned spinal cord, sub C5, relearned running, besides improving other movements, by an oscillator formation training (rhythmic, dynamic, stereotyped exercise). After 45 days of jumping on a springboard and other rhythm trainings, the patient was able to run 90 m in 41 s (7.9 km/h) (even 9....
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1996-08-01 00:00:00
abstract：:Hyperglycaemia-induced oxidative stress makes an important contribution to the aetiology of diabetic neuropathy. The aim of our study was to evaluate the effect of the antioxidant stobadine (STB) in comparison with a treatment by a high-dose of alpha-lipoic acid (ALA), on the neurological consequences of chronic hyper...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：2010-03-01 00:00:00
abstract：:The existence of a high-conductance voltage sensitive chloride channel in BC3H1 myoblasts is documented. The conductance of the channel in symmetrical 150 mmol/l sodium chloride is around 400 pS. The probability of the channel being in the open state decreases with increasing of the imposed voltage from holding potent...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1993-04-01 00:00:00
abstract：:Homocysteine (Hcys) may be implicated in different diseases, especially in cardiovascular illnesses. The most reactive form of Hcys is its cyclic thioester-homocysteine thiolactone (HTL), which is formed in plasma and represents up to 0.29% of plasma total Hcys. Recently, it has been observed that Hcys and HTL may mod...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2010_02_186
更新日期：2010-06-01 00:00:00
abstract：:The upregulation of proprotein convertase subtilisin/kexin type 9 (PCSK9) was reported to be involved in regulating the levels of inflammatory markers and apoptosis in macrophages. This study aims to investigate the function and regulation of PCSK9 in myocardial ischaemia. The results of our study showed dramatically ...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb-2019057
更新日期：2020-03-01 00:00:00
abstract：:Although the A1 adenosine receptor (A1 receptor), the main adenosine receptor type in cardiac muscle, is involved in powerful cardioprotective processes such as ischemic preconditioning, the atrial A1 receptor reserve has not yet been quantified for the direct negative inotropic effect of adenosine. In the present stu...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2013041
更新日期：2013-09-01 00:00:00
abstract：:The plasma membrane H(+)-ATPase of Neurospora has been reconstituted into planar lipid bilayer membranes by means of the vesicle-fusion technique described by Finkelstein and his collaborators (Zimmerberg et al., 1980; Cohen et al., 1980, 1984; Akabas et al., 1984). Enzyme was first transferred from isolated plasma me...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：1993-10-01 00:00:00
abstract：:Icaritin, a prenylflavonoid derivative from Epimedium Genus, has been reported to exhibit tumor inhibitory effects on many types of tumor cells. Numerous studies have demonstrated that microRNAs (miRs) involve in the biological process of carcinogenesis by controlling expression of their target mRNAs to facilitate tum...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：10.4149/gpb_2019041
更新日期：2019-11-01 00:00:00
abstract：:The role of C-type natriuretic peptide (CNP) in the gastrointestinal tract is still unclear. This study was designed to investigate the effect of CNP on barium current (I(Ba)) through the L-type calcium channel in gastric antral myocytes of guinea pigs. The whole-cell patch clamp technique was performed in gastric ant...
journal_title：General physiology and biophysics
pub_type： 杂志文章
doi：
更新日期：2006-12-01 00:00:00
