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1تقرير
المؤلفون: Ghazvini, M., Salehi, N., Rajabi, A. A.
مصطلحات موضوعية: Physics - Chemical Physics
الوصف: In this paper, the Schr\"odinger equation for 6-body system is studied. We solved this equation for lithium nucleus by using supersymmetry method with the specific potentials. These potentials are Yukawa potential, the generalized Yukawa potential and Hellmann potential. The results of our model for all calculations show that the ground state binding energy of Lithium nucleus with these potentials are very close to the ones obtained in experiments.
Comment: arXiv admin note: text overlap with arXiv:1106.3683, arXiv:0709.2931, arXiv:math-ph/0107015 by other authorsالوصول الحر: http://arxiv.org/abs/1407.2200Test
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2دورية أكاديمية
المؤلفون: Olofsen, P.A. (Patricia A.), Fatrai, S. (Szabolcs), Strien, P.M.H. (Paulette) van, Obenauer, J. (Julia), Looper, H. (Hans) de, Hoogenboezem, R.M. (Remco), Erpelinck, C.A.J. (Claudia), Vermeulen, M.P.W.M. (Michael P.W.M.), Roovers, O. (Onno), Haferlach, T. (Torsten), Jansen, J.H. (Joop), Ghazvini, M. (Mehrnaz), Bindels, E.M.J. (Eric), Schneider-Kramann, R.K.M. (Rebekka), Pater, E. (Emma) de, Touw, I.P. (Ivo)
المصدر: Cell Reports Medicine vol. 1 no. 5
مصطلحات موضوعية: AML, CSF3R, CXXC4, growth factor therapy, leukemia predisposition, pro-inflammatory signaling, RUNX1, severe congenital neutropenia, TET2
الوصف: Olofsen et al. show that acquisition of a mutation in Cxxc4 results in increased CXXC4 protein levels, reduced TET2 protein, increased inflammatory signaling, and leukemic progression of a CSF3R/RUNX1 mutant mouse model of severe congenital neutropenia (SCN).Severe congenital neutropenia (SCN) patients treated with CSF3/G-CSF to alleviate neutropenia frequently develop acute myeloid leukemia (AML). A common pattern of leukemic transformation involves the appearance of hematopoietic clones with CSF3 receptor (CSF3R) mutations in the neutropenic phase, followed by mutations in RUNX1 before AML becomes overt. To investigate how the combination of CSF3 therapy and CSF3R and RUNX1 mutations contributes to AML development, we make use of mouse models, SCN-derived induced pluripotent stem cells (iPSCs), and SCN and SCN-AML patient samples. CSF3 provokes a hyper-proliferative state in CSF3R/RUNX1 mutant hematopoietic progenitors but does not cause overt AML. Intriguingly, an additional acquired driver mutation in Cxxc4 causes elevated CXXC4 and reduced TET2 protein levels in murine AML samples. Expression of multiple pro-inflammatory pathways is elevated in mouse AML and human SCN-AML, suggesting that inflammation driven by downregulation of TET2 activity is a critical step in the malignant transformation of SCN.
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/131869Test; urn:hdl:1765/131869
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3دورية أكاديمية
المؤلفون: Perenthaler, E, Nikoncuk, A, Yousefi, S, Berdowski, WM, Alsagob, M, Capo, I, van der Linde, HC, van den Berg, P, Jacobs, EH, Putar, D, Ghazvini, M, Aronica, E, van IJcken, WFJ, de Valk, WG, Medici-van den Herik, E, van Slegtenhorst, M, Brick, L, Kozenko, M, Kohler, JN, Bernstein, JA, Monaghan, KG, Begtrup, A, Torene, R, Al Futaisi, A, Al Murshedi, F, Mani, R, Al Azri, F, Kamsteeg, E-J, Mojarrad, M, Eslahi, A, Khazaei, Z, Darmiyan, FM, Doosti, M, Karimiani, EG, Vandrovcova, J, Zafar, F, Rana, N, Kandaswamy, KK, Hertecant, J, Bauer, P, AlMuhaizea, MA, Salih, MA, Aldosary, M, Almass, R, Al-Quait, L, Qubbaj, W, Coskun, S, Alahmadi, KO, Hamad, MHA, Alwadaee, S, Awartani, K, Dababo, AM, Almohanna, F, Colak, D, Dehghani, M, Mehrjardi, MYV, Gunel, M, Ercan-Sencicek, AG, Passi, GR, Cheema, HA, Efthymiou, S, Houlden, H, Bertoli-Avella, AM, Brooks, AS, Retterer, K, Maroofian, R, Kaya, N, van Ham, TJ, Barakat, TS
الوصف: Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with life. We provide additional examples where a similar disease mechanism applies.
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111490/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdfTest; Perenthaler, E; Nikoncuk, A; Yousefi, S; Berdowski, WM; Alsagob, M; Capo, I; van der Linde, HC; van den Berg, P; Jacobs, EH; Putar, D; et al. Perenthaler, E; Nikoncuk, A; Yousefi, S; Berdowski, WM; Alsagob, M; Capo, I; van der Linde, HC; van den Berg, P; Jacobs, EH; Putar, D; Ghazvini, M; Aronica, E; van IJcken, WFJ; de Valk, WG; Medici-van den Herik, E; van Slegtenhorst, M; Brick, L; Kozenko, M; Kohler, JN; Bernstein, JA; Monaghan, KG; Begtrup, A; Torene, R; Al Futaisi, A; Al Murshedi, F; Mani, R; Al Azri, F; Kamsteeg, E-J; Mojarrad, M; Eslahi, A; Khazaei, Z; Darmiyan, FM; Doosti, M; Karimiani, EG; Vandrovcova, J; Zafar, F; Rana, N; Kandaswamy, KK; Hertecant, J; Bauer, P; AlMuhaizea, MA; Salih, MA; Aldosary, M; Almass, R; Al-Quait, L; Qubbaj, W; Coskun, S; Alahmadi, KO; Hamad, MHA; Alwadaee, S; Awartani, K; Dababo, AM; Almohanna, F; Colak, D; Dehghani, M; Mehrjardi, MYV; Gunel, M; Ercan-Sencicek, AG; Passi, GR; Cheema, HA; Efthymiou, S; Houlden, H; Bertoli-Avella, AM; Brooks, AS; Retterer, K; Maroofian, R; Kaya, N; van Ham, TJ; Barakat, TS (2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol, 139 (3). pp. 415-442. ISSN 1432-0533 https://doi.org/10.1007/s00401-019-02109-6Test SGUL Authors: Maroofian, Reza
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4دورية أكاديمية
المؤلفون: Gomes, AR, Fernandes, TG, Vaz, SH, Silva, TP, Bekman, EP, Xapelli, S, Duarte, S, Ghazvini, M, Gribnau, J, Muotri, AR, Trujillo, CA, Sebastião, AM, Cabral, JM, Diogo, MM
مصطلحات موضوعية: Rett syndrome, Disease modeling, Human induced pluripotent stem cells, Neurodevelopmental disorders, HDE NEU PED
الوصف: Engineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology, since it affects multiple neuronal subtypes in forebrain sub-regions. We have established dorsal and ventral forebrain organoids from control and RTT patient-specific hiPSCs recapitulating 3D organization and functional network complexity. Our data revealed a premature development of the deep-cortical layer, associated to the formation of TBR1 and CTIP2 neurons, and a lower expression of neural progenitor/proliferative cells in female RTT dorsal organoids. Moreover, calcium imaging and electrophysiology analysis demonstrated functional defects of RTT neurons. Additionally, assembly of RTT dorsal and ventral organoids revealed impairments of interneuron's migration. Overall, our models provide a better understanding of RTT during early stages of neural development, demonstrating a great potential for personalized diagnosis and drug screening. ; info:eu-repo/semantics/publishedVersion
العلاقة: Front Cell Dev Biol . 2020 Dec 10;8:61042; http://hdl.handle.net/10400.17/3722Test
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5دورية أكاديمية
المؤلفون: Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, CRISCUOLO, TERESA CAROLA, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V, International Parkinsonism Genetics Network.
المساهمون: Quadri, M, Mandemakers, W, Grochowska, Mm, Masius, R, Geut, H, Fabrizio, E, Breedveld, Gj, Kuipers, D, Minneboo, M, Vergouw, Ljm, Carreras Mascaro, A, Yonova-Doing, E, Simons, E, Zhao, T, Di Fonzo, Ab, Chang, Hc, Parchi, P, Melis, M, Correia Guedes, L, Criscuolo, TERESA CAROLA, Thomas, A, Brouwer, Rww, Heijsman, D, Ingrassia, Amt, Calandra Buonaura, G, Rood, Jp, Capellari, S, Rozemuller, Aj, Sarchioto, M, Fen Chien, H, Vanacore, N, Olgiati, S, Wu-Chou, Yh, Yeh, Th, Boon, Ajw, Hoogers, Se, Ghazvini, M, Ijpma, A, van IJcken, Wfj, Onofrj, M, Barone, P, Nicholl, Dj, Puschmann, A, De Mari, M, Kievit, Aj, Barbosa, E, De Michele, G, Majoor-Krakauer, D, van Swieten, Jc, de Jong, Fj, Ferreira, Jj, Cossu, G, Lu, C, Meco, G, Cortelli, P, van de Berg, Wdj, Bonifati, V, International Parkinsonism Genetics, Network.
الوصف: BACKGROUND: Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the development of these disorders. METHODS: Our study was done in three stages. First, we did genome-wide linkage analysis of an Italian family with dominantly inherited Parkinson's disease to identify the disease locus. Second, we sequenced the candidate gene in an international multicentre series of unrelated probands who were diagnosed either clinically or pathologically with Parkinson's disease, Parkinson's disease dementia, or dementia with Lewy bodies. As a control, we used gene sequencing data from individuals with abdominal aortic aneurysms (who were not examined neurologically). Third, we enrolled an independent series of patients diagnosed clinically with Parkinson's disease and controls with no signs or family history of Parkinson's disease, Parkinson's disease dementia, or dementia with Lewy bodies from centres in Portugal, Sardinia, and Taiwan, and screened them for specific variants. We also did mRNA and brain pathology studies in three patients from the international multicentre series carrying disease-associated variants, and we did functional protein studies in in-vitro models, including neurons from induced pluripotent stem-like cells. FINDINGS: Molecular studies were done between Jan 1, 2008, and Dec 31, 2017. In the initial kindred of ten affected Italian individuals (mean age of disease onset 59·8 years [SD 8·7]), we detected significant linkage of Parkinson's disease to chromosome 14 and nominated LRP10 as the disease-causing gene. Among the international series of 660 probands, we identified eight individuals (four with Parkinson's disease, two with Parkinson's disease dementia, and two with dementia with Lewy bodies) who carried different, rare, potentially pathogenic LRP10 variants; one carrier was found among 645 controls with abdominal aortic aneurysms. In ...
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29887161; info:eu-repo/semantics/altIdentifier/wos/WOS:000436495200015; volume:17; firstpage:597; lastpage:608; numberofpages:12; journal:LANCET NEUROLOGY; http://hdl.handle.net/11564/695539Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048008823
الإتاحة: https://doi.org/10.1016/S1474-4422Test(18)30179-0
http://hdl.handle.net/11564/695539Test -
6دورية أكاديمية
المؤلفون: Perenthaler, E. (Elena), Nikoncuk, A. (Anita), Yousefi, S. (Soheil), Berdowski, W.M. (Woutje M.), Alsagob, M. (Maysoon), Capo, I. (Ivan), Linde, H.C. (Herma) van der, van den Berg, P. (Paul), Jacobs, E.H. (Edwin H.), Putar, D. (Darija), Ghazvini, M. (Mehrnaz), Aronica, E.M.A. (Eleonora), IJcken, W.F.J. (Wilfred) van, de Valk, W.G. (Walter G.), Medici-van den Herik, E. (Evita), Slegtenhorst, M.A. (Marjon) van, Brick, L. (Lauren), Kozenko, M. (Mariya), Kohler, J.N. (Jennefer N.), Bernstein, J.A. (Jonathan A.), Monaghan, K.G. (Kristin G.), Begtrup, A. (Amber), Torene, R. (Rebecca), Al Futaisi, A. (Amna), Al Murshedi, F. (Fathiya), Mani, R. (Renjith), Al Azri, F. (Faisal), Kamsteeg, E.J. (Erik-Jan), Mojarrad, M. (Majid), Eslahi, A. (Atieh), Khazaei, Z. (Zaynab), Darmiyan, F.M. (Fateme Massinaei), Doosti, M. (Mohammad), Karimiani, E.G. (Ehsan Ghayoor), Vandrovcova, J. (Jana), Zafar, F. (Faisal), Rana, N. (Nuzhat), Kandaswamy, K.K. (Krishna K.), Hertecant, J. (Jozef), Bauer, P. (Peter), AlMuhaizea, M.A. (Mohammed A.), Salih, M.A. (Mustafa A.), Aldosary, M. (Mazhor), Almass, R. (Rawan), Al-Quait, L. (Laila), Qubbaj, W. (Wafa), Coskun, S. (Serdar), Alahmadi, K.O. (Khaled O.), Hamad, M.H.A. (Muddathir H. A.), Alwadaee, S. (Salem), Awartani, K. (Khalid), Dababo, A.M. (Anas M.), Almohanna, F. (Futwan), Colak, D. (Dilek), Dehghani, M. (Mohammadreza), Mehrjardi, M.Y.V. (Mohammad Yahya Vahidi), Günel, M. (Murat), Ercan-Sencicek, A.G. (A. Gulhan), Passi, G.R. (Gouri Rao), Cheema, H.A. (Huma Arshad), Efthymiou, S. (Stephanie), Houlden, H. (Henry), Bertoli Avella, A.M. (Aida), Brooks, A.S. (Alice), Retterer, K. (Kyle), Maroofian, R. (Reza), Kaya, N. (Namik), Ham, T.J. (Tjakko) van, Barakat, T.S. (Tahsin Stefan)
المصدر: Acta Neuropathologica
مصطلحات موضوعية: ATG mutations, Epileptic encephalopathy, Essential gene, Founder mutation, Genetics, Microcephaly, Recurrent mutation, Start-loss mutation, UGP2, Whole exome sequencing
الوصف: Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/122932Test; urn:hdl:1765/122932
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7دورية أكاديمية
المؤلفون: Shagholian, M., Goli, S. A.H., Shirvani, A., Agha-Ghazvini, M. R., Asgary, S.
المصدر: Grasas y Aceites; Vol. 70 No. 2 (2019); e307 ; Grasas y Aceites; Vol. 70 Núm. 2 (2019); e307 ; 1988-4214 ; 0017-3495 ; 10.3989/gya.2019.v70.i2
مصطلحات موضوعية: CLA oil, Fatty acids, HDL-C, LDL-C, Pomegranate seed oil, Aceite de CLA, Aceite de semilla de granada, Ácidos grasos
الوصف: Conjugated linoleic acid (CLA) and conjugated linolenic acid (CLnA) have been known to have several health-promoting effects. The aim of this study was to introduce a novel structured lipid (SL) including both CLA and CLnA (cis9, trans11, cis13-18:3, punicic acid) into one triacylglycerol (TAG) molecule through enzymatic interesterification and investigate its effect on body weight, liver and serum lipids in Wistar rats. CLA oil, pomegranate seed oil (as a rich source of CLnA) and soybean oil (as a negative control) were applied as other experimental oils. The rats were fed the oils at 1500 mg/kg body weight per day via oral gavage for 45 days. Gas chromatography analysis showed that SL included CLnA and CLA in roughly equal concentrations. The in vivo study revealed that SL had the greatest effect on the reduction in liver lipid weight (4.65 g/100g of liver) and liver TAG (13.28 mg/g) compared to soybean oil (8.7 g/100g and 18.8 mg/g, respectively). High density lipoprotein cholesterol (HDL-C) in the serum of rats which were fed CLA oil significantly (p < 0.05) increased (from 0.95 to 1.14 mmol/l). Pomegranate seed oil reduced low density lipoprotein cholesterol (LDL-C) and total cholesterol (about 40% and 24% reduction, respectively). A remarkable TAG reduction (p < 0.05) was observed in all treated rats. ; Se sabe que el ácido linoleico conjugado (CLA) y el ácido linolénico conjugado (CLnA) tienen varios efectos positivos para la salud. El objetivo de este estudio fue producir un nuevo lípido estructurado (SL) que incluye tanto CLA como CLnA (cis9, trans11, cis13-18:3, ácido púnico) en una molécula de triacilglicerol (TAG) a través de la interesterificación enzimática e investigar su efecto en el cuerpo, peso, lípidos hepáticos y séricos en ratas Wistar. El aceite de CLA, el aceite de semilla de granada (como una fuente rica de CLnA) y el aceite de soja (como control negativo) se aplicaron como otros aceites experimentales. Las ratas fueron alimentadas con los aceites a razón de 1500 mg/kg de peso ...
وصف الملف: text/html; application/pdf; application/xml
العلاقة: https://grasasyaceites.revistas.csic.es/index.php/grasasyaceites/article/view/1774/2437Test; https://grasasyaceites.revistas.csic.es/index.php/grasasyaceites/article/view/1774/2438Test; https://grasasyaceites.revistas.csic.es/index.php/grasasyaceites/article/view/1774/2439Test; Abbasi H, Rezaei K, Rashidi L. 2008. Extraction of essential oils from the seeds of pomegranate using organic solvents and supercritical CO2. J. Am. Oil Chem. Soc. 85, 83–89. https://doi.org/10.1007/s11746-007-1158-xTest; Adhikari P, Hu P, Yafei Z. 2012. Oxidative stabilities of enzymatically Interesterified fats containing conjugated linoleic acid. J. Am. Oil Chem. Soc. 89, 1961–1970. https://doi.org/10.1007/s11746-012-2096-9Test; Arao K, Wang YM, Inoue N, Hirata J, Cha JY, Nagao K, Yanagita T. 2004. Dietary effect of pomegranate seed oil rich in 9cis, 11trans, 13cis conjugated linolenic acid on lipid metabolism in obese, hyperlipidemic OLETF rats. Lipids Health and Dis. 24, 1–7.; Fadavi A, Barzegar M, Azizi MH. 2006. Determination of fatty acids and total lipid content in oilseed of 25 pomegranates varieties grown in Iran. J. Food Compos. Anal. 19, 676–680. https://doi.org/10.1016/j.jfca.2004.09.002Test; Farmani J, Hamedi M. 2006. Application of palm olein in the production of zero-trans Iranian vanaspati through enzymatic interesterification. Eur. J. Lipid Sci. Technol. 108, 636–643. https://doi.org/10.1002/ejlt.200600025Test; Folch J, Lees M, Sloane-Stanley GH. 1975. A simple method for the isolation and purification of total lipids from animal tissue. J. Biol. Chem. 226, 497–509.; Franczyk-Zarów M, Czyzynska I, Drahun A, Maslak E, Ch?opicki S, Kostogrys RB. 2015. Margarine supplemented with conjugated linolenic acid (CLnA) has no effect on atherosclerosis but alleviates the liver steatosis and affects the expression of lipid metabolism genes in apoE/LDLR- /- mice. Eur. J. Lipid Sci. Technol. 117, 589–600. https://doi.org/10.1002/ejlt.201400253Test; Gilbert W, Gadang V, Proctor A, Jain V, Devareddy L. 2011. Trans–trans conjugated linoleic acid enriched soybean oil reduces fatty liver and lowers serum cholesterol in obese zucker rats. Lipids 46, 961–968. https://doi.org/10.1007/s11745-011-3585-6Test PMid:21739242; Gnadig S, Xue Y, Berdeaux O, Cheardigni JM, Sebedio JL. 2003. Conjugated linoleic acid (CLA) as a functional ingredient, in Saadholm, TM, Saarela M. (Eds.) Functional Dairy Products. CRC Press, Cambridge, 263–297. ISBN: 1855735849. https://doi.org/10.1533/9781855736917.2.263Test; Goli AH, Kadivar M, Keramat J, Fazilati M. 2008. Conjugated linoleic acid (CLA) production and lipase lipasecatalyzed interesterification of purified CLA with canola oil. Eur. J. Lipid Sci. Technol. 110, 400–404. https://doi.org/10.1002/ejlt.200700267Test; Hassan W, Ding L, Gao RY, Liu J, Shang J. 2014. Interleukin-6 signal transduction and its role in hepatic lipid metabolic disorders. Cytokine 66, 133–142. https://doi.org/10.1016/j.cyto.2013.12.017Test PMid:24491813; Koba K, Akahoshi A, Yamasaki M, Tanaka K, Yamada K, Iwata T, Kamegai T, Tsutsumi K, Sugano M. 2002. Dietary conjugated linolenic acid in relation to CLA differently modifies body fat mass and serum and liver lipid levels in rats. Lipids 37, 343–350. https://doi.org/10.1007/s11745-002-0901-7Test; Koba K, Imamura J, Akashoshi A, Kohno-Murase J, Nishizono S, Iwabuchi M, Tanaka K, Sugano M. 2007. Genetically modified rapeseed oil containing cis-9, trans-11, cis-13-octadecatrienoic acid affects body fat mass and lipid metabolism in mice. J. Agric. Food Chem. 55, 3741–3748. https://doi.org/10.1021/jf063264zTest PMid:17394332; Kostogrys RB, Pisulewski PM. 2010. Conjugated linoleic acid decreased serum triacyloglycerol and changed fatty acid composition in rat's liver. J. Animal Feed Sci. 19, 484–494. https://doi.org/10.22358/jafs/66313/2010Test; Lee JH, Lee KT. 2006. Structured lipids production, in: Akoh CC (Ed.) Handbook of Functional Lipids. CRC Press, London, 489–513. ISBN: 9780849321627; Mine Y, Miyashita K, Shahidi F. 2009. Nutrigenomics and proteomics in health and disease: food factors and gene interactions Wiley-blackwell.; Miranda J, Fernández-Quintela A, Macarulla MT, Churruca I, García C, Rodríguez VM, Simón E, Portillo MP. 2009. A comparison between CLNA and CLA effects on body fat, serum parameters and liver composition. J. Physiol. Biochem. 65, 25–32. https://doi.org/10.1007/BF03165966Test PMid:19588728; Mitra K, Choi W, Lee T. 2010. Production and characterization of ?-linolenic acid enriched structured lipids from lipase-catalyzed interesterification. Food Sci. Biotechnol. 19, 7–62. https://doi.org/10.1007/s10068-010-0008-zTest; Mukherjee C, Bhattacharyya S, Bhattacharyya D. 2002. Dietary effects of punicic acid on the composition and peroxidation of rat plasma lipid. J. Oleo Sci. 51, 513–522. https://doi.org/10.5650/jos.51.513Test; Official methods and recommended practices of the AOCS. 2004. AOCS Press, Champaign.; Park Y, Albright KJ, Liu W, Cook ME, Pariza MW. 1995. Dietary conjugated linoleic acid (CLA) reduces body fat content and isomers of CLA are incorporated into phospholipid fraction. In: Institute of Food Technologist Annual Meeting: Book of Abstracts.; Park Y, Pariza MW. 2007. Mechanisms of body fat modulation by conjugated linoleic acid (CLA). Food Res. Int. 40, 311–323. https://doi.org/10.1016/j.foodres.2006.11.002Test; Park Y. 2009. Conjugated linoleic acid (CLA): Good or bad trans fat?. J. Food Comp. Anal. 22S, S4-S12. https://doi.org/10.1016/j.jfca.2008.12.002Test; Parto P, Lavie CJ, Swift D, Sui X. 2015. The role of cardiorespiratory fitness on plasma lipid levels. Expert Rev. Cardiovasc. Ther. 13, 1177–1183. https://doi.org/10.1586/14779072.2015.1092384Test PMid:26436463; Reena MB, Reddy SRY, Lokesh BR. 2009. Changes in triacylglycerol molecular species and thermal properties of blended and interesterified mixtures of coconut oil or palm oil with rice bran oil or sesame oil. Eur. J. Lipid Sci. Technol. 111, 346–357. https://doi.org/10.1002/ejlt.200800065Test; Rodríguez-Alcalá LM, Castro-Gómez MP, Pimentel LL, Fontecha J. 2017. Milk fat components with potential anticancer activity-A review. Biosci. Rep. 37. https://doi.org/10.1042/BSR20170705Test; Turtygin AV, Deineka VI, Deineka LA. 2013. Determination of the triglyceride composition of pomegranate seed oil by reversed-phase HPLC and spectrophotometry. J. Anal. Chem. 68, 558–563. https://doi.org/10.1134/S1061934813060142Test; Vyas D, Kadegowda AKG, Erdman RA. 2012. Dietary conjugated linoleic acid and hepatic steatosis: species-specific effects on liver and adipose lipid metabolism and gene expression. J. Nutr. Metab. 2012, 1–13. https://doi.org/10.1155/2012/932928Test PMid:21869929 PMCid:PMC3160137; Wahle KWJ, Heys SD, Rotondo D. 2004. Conjugated linoleic acid: are they beneficial or detrimental to health?. Prog. Lipid Res. 43, 553–587. https://doi.org/10.1016/j.plipres.2004.08.002Test PMid:15522764; Wendel AA, Purushotham A, Liu LF, Belury MA. 2008. Conjugated linoleic acid fails to worsen insulin resistance but induces hepatic steatosis in the presence of leptin in ob/ ob mice. J. Lipid Res. 49, 98–106. https://doi.org/10.1194/jlr.M700195-JLR200Test; Yamasaki M, Kitagawa T, Koyanagi N, Chujo H, Maeda H, Kohno-Murase J, Imamura J, Tachibana H, Yamada K. 2006. Dietary effect of pomegranate seed oil on immune function and lipid metabolism in mice. Nutr. 22, 54–59. https://doi.org/10.1016/j.nut.2005.03.009Test PMid:16226015; Yuan G, Haiyan S, Sinclair J. 2009. Effects of conjugated linolenic acid and conjugated linoleic acid on lipid metabolism in mice. Eur. J. Lipid Sci. Technol. 111, 537–545. https://doi.org/10.1002/ejlt.200800200Test; https://grasasyaceites.revistas.csic.es/index.php/grasasyaceites/article/view/1774Test
الإتاحة: https://doi.org/10.3989/gya.0582181Test
https://doi.org/10.3989/gya.2019.v70.i2Test
https://doi.org/10.1007/s11746-007-1158-xTest
https://doi.org/10.1007/s11746-012-2096-9Test
https://doi.org/10.1016/j.jfca.2004.09.002Test
https://doi.org/10.1002/ejlt.200600025Test
https://doi.org/10.1007/s11745-011-3585-6Test
https://doi.org/10.1533/9781855736917.2.263Test
https://doi.org/10.1002/ejlt.200700267Test
https://doi.org/10.1016/j.cyto.2013.12.017Test -
8دورية أكاديمية
المؤلفون: Theil, A.F. (Arjan), Mandemaker, I.K. (Imke), Akker, E. (Emile) van den, Swagemakers, S.M.A. (Sigrid), Raams, A. (Anja), Wüst, T. (Tatjana), Marteijn, J.A. (Jurgen), Giltay, J.C. (Jacques), Colombijn, R.M. (R. Max), Moog, U. (Ute), Kotzaeridou, U. (Urania), Ghazvini, M. (Mehrnaz), Lindern, M.M. (Marieke) von, Hoeijmakers, J.H.J. (Jan), Jaspers, N.G.J. (Nicolaas), van der Spek, P.J. (Peter J.), Vermeulen, W. (Wim)
المصدر: Human Molecular Genetics vol. 26 no. 23, pp. 4689-4698
الوصف: The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair and nails. Patients also present a variable set of poorly explained additional clinical features, including ichthyosis, impaired intelligence, developmental delay and anemia. About half of TTD patients are photosensitive due to inherited defects in the DNA repair and transcription factor II H (TFIIH). The pathophysiological contributions of unrepaired DNA lesions and impaired transcription have not been dissected yet. Here, we functionally characterize the consequence of a homozygous missense mutation in the general transcription factor II E, subunit 2 (GTF2E2/TFIIEβ) of two unrelated non-photosensitive TTD (NPSTTD) families. We demonstrate that mutant TFIIEβ strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect, which strikingly corre
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/104775Test; urn:hdl:1765/104775
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9دورية أكاديمية
المؤلفون: Gunhanlar, N, Shpak, G, van der Kroeg, M, Gouty-Colomer, L A, Munshi, S T, Lendemeijer, B, Ghazvini, M, Dupont, C, Hoogendijk, W J G, Gribnau, J, de Vrij, F M S, Kushner, S A
المصدر: Molecular Psychiatry ; volume 23, issue 5, page 1336-1344 ; ISSN 1359-4184 1476-5578
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Psychiatry and Mental health, Molecular Biology
الإتاحة: https://doi.org/10.1038/mp.2017.56Test
http://www.nature.com/articles/mp201756.pdfTest
http://www.nature.com/articles/mp201756Test -
10مؤتمر
المؤلفون: Srivastava, Ankur, Mohanty, Rabindra, Ghazvini, M. Ali Fotouhi, Tuan, Le Anh, Steen, David, Carlson, Ola
المساهمون: Horizon 2020 Framework Programme
المصدر: 2021 IEEE Madrid PowerTech
الإتاحة: https://doi.org/10.1109/powertech46648.2021.9495090Test
http://xplorestaging.ieee.org/ielx7/9494746/9494748/09495090.pdf?arnumber=9495090Test
