• Title/Summary/Keyword: $SCN4A$

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Molecular Marker Analysis for Resistance of Soybean Cultivars to Soybean Cyst Nematode

  • Chung, Jong-Il;Park, Won-Gyeong;Park, Min-Jung;Ko, Mi-Suk
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.47 no.4
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    • pp.319-322
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    • 2002
  • Soybean cyst nematode (Heterodera glycines Ichinohe; SCN) is an important soybean pest and the use of resistant cultivars is the effective method to reduce or eliminate SCN damage. However, breeding for SCN resistance is difficult and expensive by the oligogenic nature of the resistance and genetic variability in the pathogen. Fortunately, SCN resistance loci, rhg1 and Rhg4 are generally accepted as a necessity for the development of resistant genotypes using any source of resistance. In this study, resistance of 44 Korean soybean cultivars to SCN was tested using two molecular markers. Seonheukkong and Pokwangkong were the homozygous to rhg1 locus. Seven cultivars were susceptible to SCN based on Satt309 marker linked rhg1 locus. All Korean cultivars estimated in this study were recessive homozygous to Rhg4 locus and were susceptible in the PCR reaction using primer 548/563 linked to the Rhg4 locus conferring resistance to SCN race 3. Among 44 cultivars estimated, seven cultivars were susceptible to SCN in both Satt309 and primer 548/563 markers. Based on both Satt309 and primer 548/563 markers, there is no resistant cultivar to SCN in Korea. Therefore, SCN resistant cultivars need to be developed in the future. These two markers can be used for improving SCN resistant cultivars.

Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A

  • Han, Ji-Yeon;Kim, June-Bum
    • Clinical and Experimental Pediatrics
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    • v.54 no.11
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    • pp.470-472
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    • 2011
  • Familial hyperkalemic periodic paralysis (HYPP) is an autosomal-dominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene $SCN4A$ have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the $SCN4A$ gene leading to a Thr704Met mutation in the protein sequence. The parents were clinically unaffected and did not have a mutation in the $SCN4A$ gene. A $de$ $novo$ $SCN4A$ mutation for familial HYPP has not previously been reported. The patient did not respond to acetazolamide, but showed a marked improvement in paralytic symptoms upon treatment with hydrochlorothiazide. The findings in this case indicate that a $de$ $novo$ mutation needs to be considered when an isolated family member is found to have a HYPP phenotype.

The Novel SCN- Ion-selective Electrode Based on the 1-Benzyl-3-(4-nitrophenyl) thio-urea Ionophore

  • Lee, Kyungmi;Kang, Dong Hyeon;Choe, Ju Eun;Yun, Mira;You, Jung-Min;Go, Min Jeong;Lee, Junseong;Jeon, Seungwon
    • Bulletin of the Korean Chemical Society
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    • v.35 no.11
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    • pp.3175-3180
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    • 2014
  • A potentiometric sensor based on the 1-benzyl-3-(4-nitrophenyl) thio-urea was synthesized and tested as an ionophore in PVC based membrane sensor towards $SCN^-$ ions. This membrane exhibits a linear stable response over a wide concentration range ($1.0{\times}10^{-5}$ to $1.0{\times}10^{-2}M$) with a slope of -59.2 mV/dec., a detection limit of ${\log}[SCN^-]=-5.05$, and a selectivity coefficient for thiocyanate against perchlorate anion of ${\log}K^{pot}_{SCN^-j}=-0.133$. The selectivity series of the membrane is as follows: $SCN^-$ > $ClO_4{^-}$ > $I^-$ > $NO_3{^-}$ > $HSO_3{^-}$ > $Cl^-$ > $HSO_4{^-}$ > $F^-$ > $CH_3COO^-$ > $HCO_3{^-}$ > $Br^-$ > $H_2PO_4{^-}$ > $SO{_3}^{2-}$ > $SO{_4}^{2-}$ > $CO{_3}^{2-}$. The proposed electrode showed good selectivity and a good response for the $SCN^-$ ion over a wide variety of other anions in pH 6.0 buffer solutions and has a fast response time of about < 5s. The influences of the membrane by pH, ionophore, and plasticizer were studied.

Requirement of β subunit for the reduced voltage-gated Na+ current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A

  • Na Kyeong Park;Seong Woo Choi;Soon-Jung Park;JooHan Woo;Hyun Jong Kim;Woo Kyung Kim;Sung-Hwan Moon;Hun-Jun Park;Sung Joon Kim
    • The Korean Journal of Physiology and Pharmacology
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    • v.28 no.4
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    • pp.313-322
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    • 2024
  • Mutations within the SCN5A gene, which encodes the α-subunit 5 (NaV1.5) of the voltage-gated Na+ channel, have been linked to three distinct cardiac arrhythmia disorders: long QT syndrome type 3, Brugada syndrome (BrS), and cardiac conduction disorder. In this study, we have identified novel missense mutations (p.A385T/R504T) within SCN5A in a patient exhibiting overlap arrhythmia phenotypes. This study aims to elucidate the functional consequences of SCN5A mutants (p.A385T/R504T) to understand the clinical phenotypes. Whole-cell patch-clamp technique was used to analyze the NaV1.5 current (INa) in HEK293 cells transfected with the wild-type and mutant SCN5A with or without SCN1B co-expression. The amplitude of INa was not altered in mutant SCN5A (p.A385T/R504T) alone. Furthermore, a rightward shift of the voltage-dependent inactivation and faster recovery from inactivation was observed, suggesting a gain-of-function state. Intriguingly, the co-expression of SCN1B with p.A385T/R504T revealed significant reduction of INa and slower recovery from inactivation, consistent with the loss-of-function in Na+ channels. The SCN1B dependent reduction of INa was also observed in a single mutation p.R504T, but p.A385T co-expressed with SCN1B showed no reduction. In contrast, the slower recovery from inactivation with SCN1B was observed in A385T while not in R504T. The expression of SCN1B is indispensable for the electrophysiological phenotype of BrS with the novel double mutations; p.A385T and p.R504T contributed to the slower recovery from inactivation and reduced current density of NaV1.5, respectively.

A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report

  • Minsung Kang;Sohyeon Kim;Hyungseok Hah;Hung Youl Seok;Jin-Sung Park
    • Annals of Clinical Neurophysiology
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    • v.26 no.1
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    • pp.22-25
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    • 2024
  • Paramyotonia congenita (PMC) is characterized by nondystrophic myotonia aggravated by exercise and cold exposure. SCN4A mutations manifest as various phenotypes of channelopathy, including PMC, myotonia congenita, and periodic paralysis. SCN4A-related channelopathy is characterized by autosomal dominant inheritance. Parental gonadal mosaicism is suspected in cases of recurrent de novo mutation in an autosomal dominantly inherited disease. We report a case of two Korean brothers presenting with PMC due to same de novo SCN4A point mutation, probably due to parental gonadal mosaicism.

Thermodynamic Analysis of a Double-Effect Absorption Heating System Using Water-LiBr- LiSCN Solution As $20{\sim}40^{\circ}C$ Range Solar Evaporator Heating (태양열을 증발기 열원으로 사용($20{\sim}40^{\circ}C$범위)하며 LiSCN+LiBr 수용액을 사용하는 흡수식 2중효용 난방시스템의 열역학적 해석)

  • Won, Seung-Ho
    • Journal of the Korean Solar Energy Society
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    • v.26 no.4
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    • pp.73-81
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    • 2006
  • In this paper, with water-LiBr-LiSCN mixture which utilizes solar energy as mid temperature range evaporator heat source, a thermodynamic analysis was performed to provide design data for a double-effect absorption heating system. A comparative study of the water-LiBr-LiSCN mixture against the water-LiBr pair was conducted by a computer simulation. The computer simulation is based on mass, material and heat balance equations for each part of the system. Coefficients of performance and flow ratios for effects of different operating temperatures are investigated. It is found that the heating COP is higher for the water-LiBr-LiSCN mixture than for the water-LiBr pair, and FR is lower for the former.

Kinetics of Pholopolymerization of Acrylonitrile Using Sensitizer (광증감제에 의한 Acrylonitrile의 광중합 속도 (I))

  • Seul, Soo-Duk
    • Elastomers and Composites
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    • v.34 no.1
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    • pp.3-10
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    • 1999
  • Kinetics of solution photopolymerization of acrylonitrile(AN) with sensitizer, such as $NaSCN,\;KSCN,\;Ba(SCN)_2,\;NH_4SCN,\;ZnCl_2$ and $Na_2SeO_3$, were studied using UV crosslinker at various monomer concentrations($1.8{\sim}7.58mo1/1$), sensitizer concentrations($10{\sim}60%$), reaction temperature($10{\sim}70^{\circ}C$), energy intensities($1,000{\sim}9,900{\mu}J/cm^2$) at isothermal condition under nitrogen atmosphere. Under the irradiation of high pressure mercury lamp(${\lambda}=365nm$). High conversion and uniform molecular weight were obtained compare to thermal polymerization at reaction temperature of $50^{\circ}C$, reaction time of 3hr and 50% NaSCN without any initiator. Their kinetic model was as follows : $R_p=0.0142[M]^{0.82}[I]^{0.49}[S]^{0.52}$ exp(-1.33/RT).

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An NMR Study on Complexation of Ortho-Xylyl-17-Crown-5 with $^{7}Li\;and\;^{23}Na$ Ions in Acetonitrile

  • 윤신영;안상두;이조웅
    • Bulletin of the Korean Chemical Society
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    • v.16 no.3
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    • pp.265-269
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    • 1995
  • Complexation of ortho-xylyl-17-crown-5 (X17C5) with alkali metal ions in acetonitrile was studied by 7Li and 23Na NMR spectroscopy. The complex formation constants of X17C5 with LiI, LiSCN, NaI, and NaSCN were determined by investigating the changes in the chemical shifts as a function of the concentration ratio of X17C5 to metal ion. It was found that X17C5 forms 1:1 complex with Li+ and Na+ ions and the log Kf's for the complexation with LiI, LiSCN, NaI, and NaSCN were determined to be 2.88, 2.43, 2.53, and 2.30, respectively. In particular, the kinetics of complexation of X17C5 with Na+ was investigated by the method of 23Na NMR lineshape analysis. Activation energies were determined from Arrhenius plot of the resultant rate constant data to be 25.4 kJ/mol for NaI and 15.1 kJ/mol for NaSCN. Other kinetic parameters were also calculated by employing the Eyring equation. The decomplexation rates measured were 1.82 × 104 M-1s-1 for NaI and 1.50 × 104 M-1s-1 for NaSCN. It is concluded that the decomplexation mechanism is predominantly a bimolecular cation exchange for both cases.

Heterotrophic nitrification-aerobic denitrification potential of cyanide and thiocyanate degrading microbial communities under cyanogenic conditions

  • Mekuto, Lukhanyo;Kim, Young Mo;Ntwampe, Seteno K.O.;Mewa-Ngongang, Maxwell;Mudumbi, John Baptist N.;Dlangamandla, Nkosikho;Itoba-Tombo, Elie Fereche;Akinpelu, E.A.
    • Environmental Engineering Research
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    • v.24 no.2
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    • pp.254-262
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    • 2019
  • The impact of free cyanide ($CN^-$) and thiocyanate ($SCN^-$) on the $CN^-$ (CDO) and $SCN^-$ degraders (TDO) to nitrify and denitrify aerobically was evaluated under alkaline conditions. The CDO's were able to nitrify under cyanogenic conditions, achieving $NH_4{^+}-N$ removal rates above 1.66 mg $NH_4{^+}-N.L^{-1}.h^{-1}$, except when $CN^-$ and $SCN^-$ loading was 15 mg $CN^-/L$ and 50 mg $SCN^-.L^{-1}$, respectively, which slightly inhibited nitrification. The TDO's were able to achieve a nitrification rate of 1.59 mg $NH_4{^+}-N.L^{-1}.h^{-1}$ in the absence of both $CN^-$ and $SCN^-$, while the presence of $CN^-$ and $SCN^-$ was inhibitory, with a nitrification rates of 1.14 mg $NH_4{^+}-N.L^{-1}.h^{-1}$. The CDO's and TDO's were able to denitrify aerobically, with the CDO's obtaining $NO_3{^-}-N$ removal rates above 0.67 mg $NO_3{^-}-N.L^{-1}.h^{-1}$, irrespective of the tested $CN^-$ and $SCN^-$ concentration range. Denitrification by the TDO's was inhibited by $CN^-$, achieving a removal rate of 0.46 mg $NO_3{^-}-N.L^{-1}.h^{-1}$ and 0.22 mg $NO_3{^-}-N.L^{-1}.h^{-1}$ when $CN^-$ concentration was 10 and 15 mg $CN^-.L^{-1}$, respectively. However, when the CDO's and TDO's were co-cultured, the nitrification and aerobic denitrification removal rates were 1.78 mg $NH_4{^+}-N.L^{-1}.h^{-1}$ and 0.63 mg $NO_3{^-}-N.L^{-1}.h^{-1}$ irrespective of $CN^-$ and $SCN^-$ concentrations.

Hypokalemic periodic paralysis: two different genes responsible for similar clinical manifestations

  • Kim, Hun-Min;Hwang, Hee;Cheong, Hae-Il;Park, Hye-Won
    • Clinical and Experimental Pediatrics
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    • v.54 no.11
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    • pp.473-476
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    • 2011
  • Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.