المؤلفون: Mingxuan Che, Fuhai Li, Yaning Jia, Qingzheng Liu, Jian Hu, Jidong Zhang, Shiguo Liu

المصدر: Frontiers in Cardiovascular Medicine, Vol 11 (2024)

مصطلحات موضوعية: Barth syndrome, cardiomyopathy, tafazzin, rare x-linked disease, neutropenia, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2024.1465912/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/c924f3763e0943468be6416a2682d174

المؤلفون: Malte Hachmann, Güntas Gülcan, Ranjithkumar Rajendran, Marcus Höring, Gerhard Liebisch, Akash Bachhuka, Michael Kohlhaas, Christoph Maack, Süleyman Ergün, Jan Dudek, Srikanth Karnati

المصدر: Frontiers in Molecular Medicine, Vol 4 (2024)

مصطلحات موضوعية: Barth Syndrome, heart failure, tafazzin, lipids, lipidome, electrospray ionization-tandem mass spectrometry (ESI-MS/MS), Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmmed.2024.1389456/full; https://doaj.org/toc/2674-0095

URL الوصول: https://doaj.org/article/8c02a0957875418fa26b7054da7bdd55

المؤلفون: Arpita Chowdhury, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling

المصدر: EMBO Molecular Medicine, Vol 15, Iss 9, Pp 1-21 (2023)

مصطلحات موضوعية: Barth syndrome, cardiolipin, cardiomyopathy, mitochondria, tafazzin, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/d06b0aeb0b084c3dae36b33896fa43c5

المؤلفون: Rahul Raghav, Junya Awata, Gregory L. Martin, Douglas Strathdee, Robert M. Blanton, Michael T. Chin

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 24 ; Pages: 13560

مصطلحات موضوعية: tafazzin, barth syndrome, gene therapy, cell-penetrating peptide, cardiolipin

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms252413560

الاتاحة: https://doi.org/10.3390/ijms252413560

المؤلفون: Snider, Paige L., Sierra Potchanant, Elizabeth A., Sun, Zejin, Edwards, Donna M., Chan, Ka-Kui, Matias, Catalina, Awata, Junya, Sheth, Aditya, Pride, P. Melanie, Payne, R. Mark, Rubart, Michael, Brault, Jeffrey J., Chin, Michael T., Nalepa, Grzegorz, Conway, Simon J.

المساهمون: Anatomy, Cell Biology and Physiology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Barth syndrome, Patient-tailored Tafazzin mutant allele, Progressive cardiomyopathy, Mitochondria, p53 pathway

وصف الملف: application/pdf

Relation: International Journal of Molecular Sciences; https://hdl.handle.net/1805/43829

الاتاحة: https://hdl.handle.net/1805/43829

المؤلفون: Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: rare X-linked disease, TAFAZZIN, cardiolipin remodeling, cardiomyopathy, neutropenia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1250772/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/3bdd3fe150f840d8b8f215eb54c7b32c

المؤلفون: Pradipta Saha, Mohan Chandra Joshi, Sangeeta Tiwari, Rahul Saxena

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: membrane-protein association, lipid rafts, detergent-resistant membrane, Agrobacterium tumefaciens, Lactobacillus acidophilus, Tafazzin, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1216425/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/6df6de0732f74a088db3b20a6d77affa

المؤلفون: Vieira Neto, Eduardo, Kagan, Valerian E, Bayir, Hülya, Vockley, Jerry

مصطلحات موضوعية: Barth syndrome, Tafazzin deficiency, Imidazole-substituted oleic acid

Relation: https://doi.org/10.5281/zenodo.8277226; https://doi.org/10.5281/zenodo.8277227; oai:zenodo.org:8277227

الاتاحة: https://doi.org/10.5281/zenodo.8277227

المؤلفون: Gayani Perera, Liam Power, Amy Larson, Christina J. Codden, Junya Awata, Rebecca Batorsky, Douglas Strathdee, Michael T. Chin

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 14; Pages: 11594

مصطلحات موضوعية: Tafazzin, Barth Syndrome, single-nucleus RNA sequencing, cardiomyopathy, mitochondria, gene expression, metabolism

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms241411594

الاتاحة: https://doi.org/10.3390/ijms241411594

المؤلفون: Hana M. Zegallai, Kangmin Duan, Grant M. Hatch

المصدر: Biology; Volume 12; Issue 5; Pages: 730

مصطلحات موضوعية: Barth Syndrome, X-linked genetic disease, human B lymphoblasts, TAFAZZIN, cardiolipin, chemokine (C-X-C motif) ligand 1, CXCL1, Pseudomonas aeruginosa, bacterial activation, immune biology

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry and Molecular Biology; https://dx.doi.org/10.3390/biology12050730

الاتاحة: https://doi.org/10.3390/biology12050730

المؤلفون: Michelle V. Tomczewski, John Z. Chan, Zurie E. Campbell, Douglas Strathdee, Robin E. Duncan

المصدر: Biomedicines; Volume 11; Issue 2; Pages: 638

مصطلحات موضوعية: tafazzin, cardiolipin, Barth syndrome, mitochondria, energy metabolism, exercise capacity, mice

وصف الملف: application/pdf

Relation: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines11020638

الاتاحة: https://doi.org/10.3390/biomedicines11020638

المؤلفون: Płatek, Teresa, Sordyl, Maria, Polus, Anna, Olszanecka, Agnieszka, Kroczka, Sławomir, Solnica, Bogdan

مصطلحات موضوعية: barth syndrome, mosaicism, tafazzin transcripts, targeted next-generation sequencing, protein modelling

Relation: https://ruj.uj.edu.pl/xmlui/handle/item/306143; https://www.sciencedirect.com/science/article/pii/S0027510722000392?via%3Dihub

الاتاحة: https://ruj.uj.edu.pl/xmlui/handle/item/306143
https://doi.org/10.1016/j.mrfmmm.2022.111812
https://www.sciencedirect.com/science/article/pii/S0027510722000392?via%3Dihub

المؤلفون: Chowdhury, Arpita, Boshnakovska, Angela, Lindovsky, Jiri, Wachs, Dominic, Nichtova, Zuzana, Zudova, Dagmar, Koubkova, Gizela, Fischer, André, Urlaub, Henning, Brügger, Britta, Katschinski, Dörthe M, Dudek, Jan, Aich, Abhishek, Rehling, Peter, Methi, Aditi, Vergel Leon, Ana Maria, Silbern, Ivan, Lüchtenborg, Christian, Cyganek, Lukas, Prochazka, Jan, Sedlacek, Radislav

المصدر: EMBO molecular medicine 15(9), e17399 (2023). doi:10.15252/emmm.202317399

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Mice, Animals, Barth Syndrome: metabolism, Barth Syndrome: pathology, Cardiolipins: metabolism, AMP-Activated Protein Kinases: metabolism, Glycolysis, Fatty Acids: metabolism, Adenosine Triphosphate, Barth syndrome, cardiolipin, cardiomyopathy, mitochondria, tafazzin, Cardiolipins, AMP-Activated Protein Kinases, Fatty Acids

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1757-4676; info:eu-repo/semantics/altIdentifier/issn/1715-4684; info:eu-repo/semantics/altIdentifier/issn/1757-4684; info:eu-repo/semantics/altIdentifier/pmid/pmid:37533404; https://pub.dzne.de/record/263814; https://pub.dzne.de/search?p=id:%22DZNE-2023-00899%22

الاتاحة: https://pub.dzne.de/record/263814
https://pub.dzne.de/search?p=id:%22DZNE-2023-00899%22

المؤلفون: Michelle V. Tomczewski, John Z. Chan, Duaa M. Al-Majmaie, Ming Rong Liu, Alex D. Cocco, Ken D. Stark, Douglas Strathdee, Robin E. Duncan

المصدر: Biology, Vol 12, Iss 1238, p 1238 (2023)

مصطلحات موضوعية: tafazzin, cardiolipin, Barth syndrome, mitochondria, energy metabolism, exercise capacity, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2079-7737/12/9/1238; https://doaj.org/toc/2079-7737; https://doaj.org/article/a6816bbca01e4a64aa89ac936befd020

الاتاحة: https://doi.org/10.3390/biology12091238
https://doaj.org/article/a6816bbca01e4a64aa89ac936befd020

المؤلفون: Xuliang Zhao, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: tafazzin, prenatal diagnosis, LVNC, WES, congenital heart disease, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1004485/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/b98f5183ebdc4aa29da8d16d59314acd

المؤلفون: Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells

المصدر: Disease Models & Mechanisms, Vol 15, Iss 10 (2022)

مصطلحات موضوعية: nicotinamide riboside, nad+, barth syndrome, exercise tolerance, drosophila, tafazzin, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/10/dmm049279; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/f425bf018ea64b7a81edbc0521ac9cf9

المؤلفون: Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Barth syndrome, cardiolipin, cellular proliferation, gene expression, tafazzin, Barth syndrome (BTHS), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1009773/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/6902018728e4466e9ce6c119e600b505

المؤلفون: Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Barth syndrome, cardiolipin, cellular proliferation, gene expression, tafazzin, Barth syndrome (BTHS), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.931017/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ccfbeaf0a01a4f44a636a95043149365

المؤلفون: Andreas Seitz, Annely Hinck, Raffi Bekeredjian, Udo Sechtem

المصدر: ESC Heart Failure, Vol 7, Iss 2, Pp 697-701 (2020)

مصطلحات موضوعية: Barth syndrome, Cardiomyopathy, Left ventricular non‐compaction, Neutropenia, Tafazzin, TAZ, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2055-5822

URL الوصول: https://doaj.org/article/778dd10a2a394d619a6739404a9d4c00

المؤلفون: Gopinath, Madhumala, Di Liddo, Rosa, Marotta, Francesco, Murugesan, Ramachandran, Banerjee, Antara, Sriramulu, Sushmitha, Jothimani, Ganesan, Subramaniam, Vimala Devi, Narasimhan, Srinivasan, Priya K, Swarna, Sun, Xiao-Feng, 1959, Pathak, Surajit

المصدر: International Journal of Hematology-Oncology and Stem Cell Research. 12(2):153-165

مصطلحات موضوعية: Extracellular matrix, Oncoprotein, Proteoglycan, Stemness, Tafazzin

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-155842
https://liu.diva-portal.org/smash/get/diva2:1300714/FULLTEXT01.pdf