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Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.

JIMD reports

David D, Almeida LS, Maggi M, Araújo C, Imreh S, Valentini G, Fekete G, Haltrich I.
PMID: 25814383
JIMD Rep. 2015;23:55-65. doi: 10.1007/8904_2015_427. Epub 2015 Mar 27.

Carriers of cytogenetically similar, apparently balanced familial chromosome translocations not always exhibit the putative translocation-associated disease phenotype. Additional genetic defects, such as genomic imbalance at breakpoint regions or elsewhere in the genome, have been reported as the most plausible...

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David D, Almeida LS, Maggi M, et al. Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. JIMD Rep. 2015;23:55-65doi: 10.1007/8904_2015_427.
David, D., Almeida, L. S., Maggi, M., Araújo, C., Imreh, S., Valentini, G., Fekete, G., & Haltrich, I. (2015). Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. JIMD reports, 2355-65. https://doi.org/10.1007/8904_2015_427
David, Dezső, et al. "Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene." JIMD reports vol. 23 (2015): 55-65. doi: https://doi.org/10.1007/8904_2015_427
David D, Almeida LS, Maggi M, Araújo C, Imreh S, Valentini G, Fekete G, Haltrich I. Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. JIMD Rep. 2015;23:55-65. doi: 10.1007/8904_2015_427. Epub 2015 Mar 27. PMID: 25814383; PMCID: PMC4484905.
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Ablation of intact hypothalamic and/or hindbrain TrkB signaling leads to perturbations in energy balance.

Molecular metabolism

Ozek C, Zimmer DJ, De Jonghe BC, Kalb RG, Bence KK.
PMID: 26629410
Mol Metab. 2015 Aug 18;4(11):867-80. doi: 10.1016/j.molmet.2015.08.002. eCollection 2015 Nov.

OBJECTIVE: Brain-derived neurotrophic factor (BDNF) and its receptor, tropomyosin receptor kinase B (TrkB), play a paramount role in the central regulation of energy balance. Despite the substantial body of genetic evidence implicating BDNF- or TrkB-deficiency in human obesity, the...

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Ozek C, Zimmer DJ, De Jonghe BC, et al. Ablation of intact hypothalamic and/or hindbrain TrkB signaling leads to perturbations in energy balance. Mol Metab. 2015;4(11):867-80doi: 10.1016/j.molmet.2015.08.002.
Ozek, C., Zimmer, D. J., De Jonghe, B. C., Kalb, R. G., & Bence, K. K. (2015). Ablation of intact hypothalamic and/or hindbrain TrkB signaling leads to perturbations in energy balance. Molecular metabolism, 4(11), 867-80. https://doi.org/10.1016/j.molmet.2015.08.002
Ozek, Ceren, et al. "Ablation of intact hypothalamic and/or hindbrain TrkB signaling leads to perturbations in energy balance." Molecular metabolism vol. 4,11 (2015): 867-80. doi: https://doi.org/10.1016/j.molmet.2015.08.002
Ozek C, Zimmer DJ, De Jonghe BC, Kalb RG, Bence KK. Ablation of intact hypothalamic and/or hindbrain TrkB signaling leads to perturbations in energy balance. Mol Metab. 2015 Aug 18;4(11):867-80. doi: 10.1016/j.molmet.2015.08.002. eCollection 2015 Nov. PMID: 26629410; PMCID: PMC4632115.
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Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp.

Pediatric diabetes

Post EM, Moore JD, Ihrke J, Aisenberg J.
PMID: 15016217
Pediatr Diabetes. 2000 Dec;1(4):204-8. doi: 10.1046/j.1399543x.2000.010406.x.

Residential summer camps for youths with diabetes may have a positive effect on glycemic control. Hemoglobin A1c (HbA1c) is considered the best measure of control, but it reflects too long a period to evaluate a camp session. The fructosamine...

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Post EM, Moore JD, Ihrke J, et al. Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp. Pediatr Diabetes. 2000;1(4):204-8doi: 10.1046/j.1399543x.2000.010406.x.
Post, E. M., Moore, J. D., Ihrke, J., & Aisenberg, J. (2000). Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp. Pediatric diabetes, 1(4), 204-8. https://doi.org/10.1046/j.1399543x.2000.010406.x
Post, E M, et al. "Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp." Pediatric diabetes vol. 1,4 (2000): 204-8. doi: https://doi.org/10.1046/j.1399543x.2000.010406.x
Post EM, Moore JD, Ihrke J, Aisenberg J. Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp. Pediatr Diabetes. 2000 Dec;1(4):204-8. doi: 10.1046/j.1399543x.2000.010406.x. PMID: 15016217.
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Iridium luminophore complexes for unimolecular oxygen sensors.

Journal of the American Chemical Society

DeRosa MC, Hodgson DJ, Enright GD, Dawson B, Evans CE, Crutchley RJ.
PMID: 15198610
J Am Chem Soc. 2004 Jun 23;126(24):7619-26. doi: 10.1021/ja049872h.

In this study, a series of novel luminescent cyclometalated Ir(III) complexes has been synthesized and evaluated for use in unimolecular oxygen-sensing materials. The complexes Ir(C6)(2)(vacac), 1, Ir(ppy)(2)(vacac), 2, fac-Ir(ppy)(2)(vppy), 3, and mer-Ir(ppy)(2)(vppy), 4, where C6 = Coumarin 6, vacac...

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DeRosa MC, Hodgson DJ, Enright GD, et al. Iridium luminophore complexes for unimolecular oxygen sensors. J Am Chem Soc. 2004;126(24):7619-26doi: 10.1021/ja049872h.
DeRosa, M. C., Hodgson, D. J., Enright, G. D., Dawson, B., Evans, C. E., & Crutchley, R. J. (2004). Iridium luminophore complexes for unimolecular oxygen sensors. Journal of the American Chemical Society, 126(24), 7619-26. https://doi.org/10.1021/ja049872h
DeRosa, Maria C, et al. "Iridium luminophore complexes for unimolecular oxygen sensors." Journal of the American Chemical Society vol. 126,24 (2004): 7619-26. doi: https://doi.org/10.1021/ja049872h
DeRosa MC, Hodgson DJ, Enright GD, Dawson B, Evans CE, Crutchley RJ. Iridium luminophore complexes for unimolecular oxygen sensors. J Am Chem Soc. 2004 Jun 23;126(24):7619-26. doi: 10.1021/ja049872h. PMID: 15198610.
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Beneficial influence of Vero cells on in vitro maturation and fertilization of bovine oocytes.

Theriogenology

Grocholová R, Petr J, Marek J, Teplá O.
PMID: 16727719
Theriogenology. 1995 Jul 15;44(2):199-207. doi: 10.1016/0093-691x(95)00169-9.

The aim of this study was to examine the effects of Vero cells and other somatic cells on in vitro maturation of bovine oocytes. Both denuded oocytes and oocytes with intact cumuli (COCs) were cultured on monolayer of Vero...

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Grocholová R, Petr J, Marek J, et al. Beneficial influence of Vero cells on in vitro maturation and fertilization of bovine oocytes. Theriogenology. 1995;44(2):199-207doi: 10.1016/0093-691x(95)00169-9.
Grocholová, R., Petr, J., Marek, J., & Teplá, O. (1995). Beneficial influence of Vero cells on in vitro maturation and fertilization of bovine oocytes. Theriogenology, 44(2), 199-207. https://doi.org/10.1016/0093-691x(95)00169-9
Grocholová, R, et al. "Beneficial influence of Vero cells on in vitro maturation and fertilization of bovine oocytes." Theriogenology vol. 44,2 (1995): 199-207. doi: https://doi.org/10.1016/0093-691x(95)00169-9
Grocholová R, Petr J, Marek J, Teplá O. Beneficial influence of Vero cells on in vitro maturation and fertilization of bovine oocytes. Theriogenology. 1995 Jul 15;44(2):199-207. doi: 10.1016/0093-691x(95)00169-9. PMID: 16727719.
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WITHDRAWN: A Rare Intracardiac Mass: Cardiac Paraganglioma.

Heart, lung & circulation

Imren Y, Tasoglu I, Benson AA, Sinci V.
PMID: 17240193
Heart Lung Circ. 2007 Jan 19; doi: 10.1016/j.hlc.2006.01.004. Epub 2007 Jan 19.

The Publisher regrets that this article is an accidental duplication of an article that has already been published in Heart Lung Circ, 16 (2007) 116-117, doi:10.1016/j.hlc.2006.12.002. The duplicate article has therefore been withdrawn.

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Imren Y, Tasoglu I, Benson AA, et al. WITHDRAWN: A Rare Intracardiac Mass: Cardiac Paraganglioma. Heart Lung Circ. 2007;doi: 10.1016/j.hlc.2006.01.004.
Imren, Y., Tasoglu, I., Benson, A. A., & Sinci, V. (2007). WITHDRAWN: A Rare Intracardiac Mass: Cardiac Paraganglioma. Heart, lung & circulation, . https://doi.org/10.1016/j.hlc.2006.01.004
Imren, Yildirim, et al. "WITHDRAWN: A Rare Intracardiac Mass: Cardiac Paraganglioma." Heart, lung & circulation vol. (2007). doi: https://doi.org/10.1016/j.hlc.2006.01.004
Imren Y, Tasoglu I, Benson AA, Sinci V. WITHDRAWN: A Rare Intracardiac Mass: Cardiac Paraganglioma. Heart Lung Circ. 2007 Jan 19; doi: 10.1016/j.hlc.2006.01.004. Epub 2007 Jan 19. PMID: 17240193.
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Light scattering on oceanic turbulence.

Applied optics

Bogucki DJ, Domaradzki JA, Ecke RE, Truman CR.
PMID: 15534998
Appl Opt. 2004 Oct 20;43(30):5662-8. doi: 10.1364/ao.43.005662.

Turbulent inhomogeneities of fluid flow have the effect of scattering light in near-forward angles, thus providing an opportunity to use optics to quantify turbulence. Here we report measurements of the volume-scattering function in the range of 10(-7) to 10(-3)...

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Bogucki DJ, Domaradzki JA, Ecke RE, et al. Light scattering on oceanic turbulence. Appl Opt. 2004;43(30):5662-8doi: 10.1364/ao.43.005662.
Bogucki, D. J., Domaradzki, J. A., Ecke, R. E., & Truman, C. R. (2004). Light scattering on oceanic turbulence. Applied optics, 43(30), 5662-8. https://doi.org/10.1364/ao.43.005662
Bogucki, Darek J, et al. "Light scattering on oceanic turbulence." Applied optics vol. 43,30 (2004): 5662-8. doi: https://doi.org/10.1364/ao.43.005662
Bogucki DJ, Domaradzki JA, Ecke RE, Truman CR. Light scattering on oceanic turbulence. Appl Opt. 2004 Oct 20;43(30):5662-8. doi: 10.1364/ao.43.005662. PMID: 15534998.
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The oxidation of organic compounds by tervalent manganese compounds-II The determination of mandelic acid with a tervalent manganese standard solution in perchloric acid medium.

Talanta

Barek J, Berka A.
PMID: 18961545
Talanta. 1974 Aug;21(8):887-8. doi: 10.1016/0039-9140(74)80226-2.

An indirect titrimetric determination of mandelic acid, based on its oxidation by a standard solution of hexa-aquomanganese(III) in perchloric acid medium, is described.

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Barek J, Berka A. The oxidation of organic compounds by tervalent manganese compounds-II The determination of mandelic acid with a tervalent manganese standard solution in perchloric acid medium. Talanta. 1974;21(8):887-8doi: 10.1016/0039-9140(74)80226-2.
Barek, J., & Berka, A. (1974). The oxidation of organic compounds by tervalent manganese compounds-II The determination of mandelic acid with a tervalent manganese standard solution in perchloric acid medium. Talanta, 21(8), 887-8. https://doi.org/10.1016/0039-9140(74)80226-2
Barek, J, and Berka, A. "The oxidation of organic compounds by tervalent manganese compounds-II The determination of mandelic acid with a tervalent manganese standard solution in perchloric acid medium." Talanta vol. 21,8 (1974): 887-8. doi: https://doi.org/10.1016/0039-9140(74)80226-2
Barek J, Berka A. The oxidation of organic compounds by tervalent manganese compounds-II The determination of mandelic acid with a tervalent manganese standard solution in perchloric acid medium. Talanta. 1974 Aug;21(8):887-8. doi: 10.1016/0039-9140(74)80226-2. PMID: 18961545.
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Voltammetric determination of benzidine and its derivatives, at a glassy-carbon electrode.

Talanta

Barek J, Berka A, Tocksteinová Z, Zima J.
PMID: 18964206
Talanta. 1986 Oct;33(10):811-5. doi: 10.1016/0039-9140(86)80199-0.

Conditions have been found for the determination of benzidine, o-tolidine, o-dianisidine, 3,3'-diaminobenzidine and 3,3'-dichlorobenzidine by classical and differential pulse voltammetry at a glassy-carbon stationary or rotating electrode, in the concentration range 10(-5)-10(-3)M. The mechanism of the oxidation is discussed...

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Barek J, Berka A, Tocksteinová Z, et al. Voltammetric determination of benzidine and its derivatives, at a glassy-carbon electrode. Talanta. 1986;33(10):811-5doi: 10.1016/0039-9140(86)80199-0.
Barek, J., Berka, A., Tocksteinová, Z., & Zima, J. (1986). Voltammetric determination of benzidine and its derivatives, at a glassy-carbon electrode. Talanta, 33(10), 811-5. https://doi.org/10.1016/0039-9140(86)80199-0
Barek, J, et al. "Voltammetric determination of benzidine and its derivatives, at a glassy-carbon electrode." Talanta vol. 33,10 (1986): 811-5. doi: https://doi.org/10.1016/0039-9140(86)80199-0
Barek J, Berka A, Tocksteinová Z, Zima J. Voltammetric determination of benzidine and its derivatives, at a glassy-carbon electrode. Talanta. 1986 Oct;33(10):811-5. doi: 10.1016/0039-9140(86)80199-0. PMID: 18964206.
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Self-folding of three-dimensional hydrogel microstructures.

The journal of physical chemistry. B

Guan J, He H, Hansford DJ, Lee LJ.
PMID: 16375273
J Phys Chem B. 2005 Dec 15;109(49):23134-7. doi: 10.1021/jp054341g.

This letter describes the fabrication of three-dimensional particulate-like hydrogel microstructures using a combination of soft lithography and volume expansion induced self-folding. Bilayer structures are produced by solvent casting and photocuring of liquid resins. They curl into three-dimensional (3D) structures...

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Guan J, He H, Hansford DJ, et al. Self-folding of three-dimensional hydrogel microstructures. J Phys Chem B. 2005;109(49):23134-7doi: 10.1021/jp054341g.
Guan, J., He, H., Hansford, D. J., & Lee, L. J. (2005). Self-folding of three-dimensional hydrogel microstructures. The journal of physical chemistry. B, 109(49), 23134-7. https://doi.org/10.1021/jp054341g
Guan, Jingjiao, et al. "Self-folding of three-dimensional hydrogel microstructures." The journal of physical chemistry. B vol. 109,49 (2005): 23134-7. doi: https://doi.org/10.1021/jp054341g
Guan J, He H, Hansford DJ, Lee LJ. Self-folding of three-dimensional hydrogel microstructures. J Phys Chem B. 2005 Dec 15;109(49):23134-7. doi: 10.1021/jp054341g. PMID: 16375273.
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Synthesis, characterization, and catalytic activity of a well-defined rhodium siloxide complex immobilized on silica.

Angewandte Chemie (International ed. in English)

Marciniec B, Szubert K, Potrzebowski MJ, Kownacki I, Łeszczak K.
PMID: 18058970
Angew Chem Int Ed Engl. 2008;47(3):541-4. doi: 10.1002/anie.200704362.

No abstract available.

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Marciniec B, Szubert K, Potrzebowski MJ, et al. Synthesis, characterization, and catalytic activity of a well-defined rhodium siloxide complex immobilized on silica. Angew Chem Int Ed Engl. 2008;47(3):541-4doi: 10.1002/anie.200704362.
Marciniec, B., Szubert, K., Potrzebowski, M. J., Kownacki, I., & Łeszczak, K. (2008). Synthesis, characterization, and catalytic activity of a well-defined rhodium siloxide complex immobilized on silica. Angewandte Chemie (International ed. in English), 47(3), 541-4. https://doi.org/10.1002/anie.200704362
Marciniec, Bogdan, et al. "Synthesis, characterization, and catalytic activity of a well-defined rhodium siloxide complex immobilized on silica." Angewandte Chemie (International ed. in English) vol. 47,3 (2008): 541-4. doi: https://doi.org/10.1002/anie.200704362
Marciniec B, Szubert K, Potrzebowski MJ, Kownacki I, Łeszczak K. Synthesis, characterization, and catalytic activity of a well-defined rhodium siloxide complex immobilized on silica. Angew Chem Int Ed Engl. 2008;47(3):541-4. doi: 10.1002/anie.200704362. PMID: 18058970.
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The oxidation of organic substances by compounds of tervalent manganese-I Oxidation of mandelic acid, ethylene glycol, glycerol and d-mannitol by the pyrophosphate complex of manganese(III) and by manganese(III) sulphate.

Talanta

Barek J, Berka A, Procházková I.
PMID: 18961435
Talanta. 1974 Feb;21(2):157-61. doi: 10.1016/0039-9140(74)80037-8.

The oxidation of mandelic acid, ethylene glycol, glycerol and d-mannitol by the pyrophosphate complex of manganese(III) and with manganese(III) sulphate was studied. It was shown that benzaldehyde is formed by oxidation of mandelic acid, which undergoes no further oxidation....

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Barek J, Berka A, Procházková I. The oxidation of organic substances by compounds of tervalent manganese-I Oxidation of mandelic acid, ethylene glycol, glycerol and d-mannitol by the pyrophosphate complex of manganese(III) and by manganese(III) sulphate. Talanta. 1974;21(2):157-61doi: 10.1016/0039-9140(74)80037-8.
Barek, J., Berka, A., & Procházková, I. (1974). The oxidation of organic substances by compounds of tervalent manganese-I Oxidation of mandelic acid, ethylene glycol, glycerol and d-mannitol by the pyrophosphate complex of manganese(III) and by manganese(III) sulphate. Talanta, 21(2), 157-61. https://doi.org/10.1016/0039-9140(74)80037-8
Barek, J, et al. "The oxidation of organic substances by compounds of tervalent manganese-I Oxidation of mandelic acid, ethylene glycol, glycerol and d-mannitol by the pyrophosphate complex of manganese(III) and by manganese(III) sulphate." Talanta vol. 21,2 (1974): 157-61. doi: https://doi.org/10.1016/0039-9140(74)80037-8
Barek J, Berka A, Procházková I. The oxidation of organic substances by compounds of tervalent manganese-I Oxidation of mandelic acid, ethylene glycol, glycerol and d-mannitol by the pyrophosphate complex of manganese(III) and by manganese(III) sulphate. Talanta. 1974 Feb;21(2):157-61. doi: 10.1016/0039-9140(74)80037-8. PMID: 18961435.
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Showing 25 to 36 of 786 entries