المؤلفون: Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y., Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

مصطلحات موضوعية: Medicina, Medicine

الوقت: 61

العلاقة: Haematologica; 106;7; Ducamp, Sarah; Luscieti, Sara; Ferrer-Cortès, Xènia [et al.]. A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. Haematologica, 2021, 106(7), p. 2030-2033. Disponible en: . Fecha de acceso: 23 ene. 2024. DOI:10.3324/haematol.2020.272450; http://hdl.handle.net/20.500.12328/3941Test; https://dx.doi.org/10.3324/haematol.2020.272450Test

الإتاحة: https://doi.org/20.500.12328/3941Test
https://doi.org/10.3324/haematol.2020.272450Test
https://hdl.handle.net/20.500.12328/3941Test

المؤلفون: Yien, Yvette Y, Shi, Jiahai, Chen, Caiyong, Cheung, Jesmine TM, Grillo, Anthony S, Shrestha, Rishna, Li, Liangtao, Zhang, Xuedi, Kafina, Martin D, Kingsley, Paul D, King, Matthew J, Ablain, Julien, Li, Hojun, Zon, Leonard I, Palis, James, Burke, Martin D, Bauer, Daniel E, Orkin, Stuart H, Koehler, Carla M, Phillips, John D, Kaplan, Jerry, Ward, Diane M, Lodish, Harvey F, Paw, Barry H

المصدر: Journal of Biological Chemistry. 293(51)

مصطلحات موضوعية: Nutrition, Digestive Diseases, Hematology, 1.1 Normal biological development and functioning, Underpinning research, Blood, Animals, Erythroid Cells, Erythropoiesis, Erythropoietin, Ferrochelatase, HEK293 Cells, Heme, Humans, Iron, Membrane Proteins, Mice, Mitochondria, Mitochondrial Membranes, Mitochondrial Proteins, Protein Transport, heme, iron metabolism, cell metabolism, erythrocyte, erythropoiesis, red blood cell, Chemical Sciences, Biological Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology

الوصول الحر: https://escholarship.org/uc/item/0qr1j5bwTest

المؤلفون: Yien, Yvette Y., Perfetto, Mark

المساهمون: National Institutes of Health

المصدر: Frontiers in Cell and Developmental Biology ; volume 10 ; ISSN 2296-634X

الإتاحة: https://doi.org/10.3389/fcell.2022.895521Test

المؤلفون: Chandrasekera, Pathirennehelage, Perfetto, Mark, Lu, Congyu, Zhuo, Minghui, Bahudhanapati, Harinath, Li, Jiejing, Chen, Wei-Chih, Kulkarni, Pallavi, Christian, Laura, Liu, Jun, Yien, Yvette Y., Yu, Chundong, Wei, Shuo

المساهمون: National Institutes of Health, NIGMS, NIDCR

المصدر: Journal of Biological Chemistry ; volume 298, issue 8, page 102225 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jbc.2022.102225Test
https://api.elsevier.com/content/article/PII:S0021925822006676?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925822006676?httpAccept=text/plainTest

المؤلفون: Abello, Javier, Raghavan, Shreya, Yien, Yvette Y., Stratman, Amber N.

المساهمون: National Institutes of Health, National Institute of General Medical Sciences, Cancer Research Foundation

المصدر: Journal of Biological Chemistry ; volume 298, issue 10, page 102404 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jbc.2022.102404Test
https://api.elsevier.com/content/article/PII:S002192582200847X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S002192582200847X?httpAccept=text/plainTest

المؤلفون: Yien, Yvette Y, Robledo, Raymond F, Schultz, Iman J, Takahashi-Makise, Naoko, Gwynn, Babette, Bauer, Daniel E, Dass, Abhishek, Yi, Gloria, Li, Liangtao, Hildick-Smith, Gordon J, Cooney, Jeffrey D, Pierce, Eric L, Mohler, Kyla, Dailey, Tamara A, Miyata, Non, Kingsley, Paul D, Garone, Caterina, Hattangadi, Shilpa M, Huang, Hui, Chen, Wen, Keenan, Ellen M, Shah, Dhvanit I, Schlaeger, Thorsten M, DiMauro, Salvatore, Orkin, Stuart H, Cantor, Alan B, Palis, James, Koehler, Carla M, Lodish, Harvey F, Kaplan, Jerry, Ward, Diane M, Dailey, Harry A, Phillips, John D, Peters, Luanne L, Paw, Barry H

المصدر: Journal of Clinical Investigation. 124(10)

مصطلحات موضوعية: Hematology, Liver Disease, Digestive Diseases, Anemia, Animals, Cell Line, Erythroid Cells, Erythropoiesis, Gene Expression Regulation, Heme, Hemoglobins, Liver, Membrane Proteins, Mice, Mitochondria, Mitochondrial Membrane Transport Proteins, Mitochondrial Membranes, Porphyrins, Protoporphyrins, RNA, Small Interfering, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8hk5g0zqTest

المؤلفون: Hildick-Smith, Gordon J, Cooney, Jeffrey D, Garone, Caterina, Kremer, Laura S, Haack, Tobias B, Thon, Jonathan N, Miyata, Non, Lieber, Daniel S, Calvo, Sarah E, Akman, H Orhan, Yien, Yvette Y, Huston, Nicholas C, Branco, Diana S, Shah, Dhvanit I, Freedman, Matthew L, Koehler, Carla M, Italiano, Joseph E, Merkenschlager, Andreas, Beblo, Skadi, Strom, Tim M, Meitinger, Thomas, Freisinger, Peter, Donati, M Alice, Prokisch, Holger, Mootha, Vamsi K, DiMauro, Salvatore, Paw, Barry H

المصدر: American Journal of Human Genetics. 93(5)

مصطلحات موضوعية: Hematology, Pediatric, Adolescent, Anemia, Macrocytic, Animals, Child, Erythropoiesis, Exome, Female, Gene Knockdown Techniques, Humans, Membrane Proteins, Mitochondrial Diseases, Mitochondrial Proteins, Mutation, Zebrafish, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4m45q6g9Test

المؤلفون: Yien, Yvette Y., Ducamp, Sarah, van der Vorm, Lisa N., Kardon, Julia R., Manceau, Hana, Kannengiesser, Caroline, Bergonia, Hector A., Kafina, Martin D., Karim, Zoubida, Gouya, Laurent, Baker, Tania A., Puy, Hervé, Phillips, John D., Nicolas, Gaël, Paw, Barry H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Sep . 114(38), E8045-E8052.

الوصول الحر: https://www.jstor.org/stable/26488001Test

المؤلفون: Rondelli, Catherine M., Perfetto, Mark, Danoff, Aidan, Bergonia, Hector, Gillis, Samantha, O'Neill, Leah, Jackson, Laurie, Nicolas, Gael, Puy, Herve, West, Richard, Phillips, John D., Yien, Yvette Y.

المساهمون: National Institutes of Health, Cooley's Anemia Foundation

المصدر: Journal of Biological Chemistry ; volume 297, issue 2, page 100972 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jbc.2021.100972Test
https://api.elsevier.com/content/article/PII:S0021925821007742?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925821007742?httpAccept=text/plainTest

المؤلفون: Grillo, Anthony S., SantaMaria, Anna M., Kafina, Martin D., Cioffi, Alexander G., Huston, Nicholas C., Han, Murui, Seo, Young Ah, Yien, Yvette Y., Nardone, Christopher, Menon, Archita V., Fan, James, Svoboda, Dillon C., Anderson, Jacob B., Hong, John D., Nicolau, Bruno G., Subedi, Kiran, Gewirth, Andrew A., Wessling-Resnick, Marianne, Kim, Jonghan, Paw, Barry H., Burke, Martin D.

المصدر: Science, 2017 May 01. 356(6338), 608-616.

الوصول الحر: https://www.jstor.org/stable/26398999Test