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1Academic Journal
المؤلفون: Knöpfel, Emilia Boiadjieva, Vilches, Clara, Camargo, Simone MR, Errasti-Murugarren, Ekaitz, Stäubli, Andrina, Mayayo, Clara, Munier, Francis L, Miroshnikova, Nataliya, Poncet, Nadège, Junza, Alexandra, Bhattacharya, Shomi S, Prat, Esther, Berry, Vanita, Berger, Wolfgang, Heon, Elise, Moore, Anthony T, Yanes, Óscar, Nunes, Virginia, Palacín, Manuel, Verrey, Francois, Kloeckener-Gruissem, Barbara
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Aging, Congenital Structural Anomalies, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, amino acid transporters LAT2 and TAT1, gene expression, cataract, ocular tissues, mouse model, patient screen, Physiology, Medical Physiology, Psychology, Biochemistry and cell biology, Medical physiology
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Shanbagh, Shaika, Matalia, Jyoti, Kannan, Ramaraj, Shetty, Rohit, Panmand, Pratibha, Muthu, Sumitha O, Chaurasia, Shyam S, Deshpande, Vrushali, Bhattacharya, Shomi S, Gopalakrishnan, Abilash V, Ghosh, Arkasubhra
المصدر: Indian Journal of Ophthalmology ; volume 71, issue 5, page 2143-2151 ; ISSN 0301-4738
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3Academic Journal
المؤلفون: Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L, Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S, Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G Bhanuprakash, Hejtmancik, J Fielding, Georgiou, George, Riazuddin, S Amer, Ayyagari, Radha
المصدر: Human Molecular Genetics. 25(12)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Eye Disease and Disorders of Vision, Neurosciences, Neurodegenerative, Rare Diseases, 2.1 Biological and endogenous factors, Eye, Adult, Animals, Asparaginase, Autoantigens, Disease Models, Animal, Exome, Genetic Linkage, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Retina, Retinal Cone Photoreceptor Cells, Retinal Degeneration, Visual Acuity, Zebrafish, Medical and Health Sciences, Genetics & Heredity
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4Academic Journal
المؤلفون: Ratnapriya, Rinki, Zhan, Xiaowei, Fariss, Robert N, Branham, Kari E, Zipprer, David, Chakarova, Christina F, Sergeev, Yuri V, Campos, Maria M, Othman, Mohammad, Friedman, James S, Maminishkis, Arvydas, Waseem, Naushin H, Brooks, Matthew, Rajasimha, Harsha K, Edwards, Albert O, Lotery, Andrew, Klein, Barbara E, Truitt, Barbara J, Li, Bingshan, Schaumberg, Debra A, Morgan, Denise J, Morrison, Margaux A, Souied, Eric, Tsironi, Evangelia E, Grassmann, Felix, Fishman, Gerald A, Silvestri, Giuliana, Scholl, Hendrik PN, Kim, Ivana K, Ramke, Jacqueline, Tuo, Jingsheng, Merriam, Joanna E, Merriam, John C, Park, Kyu Hyung, Olson, Lana M, Farrer, Lindsay A, Johnson, Matthew P, Peachey, Neal S, Lathrop, Mark, Baron, Robert V, Igo, Robert P, Klein, Ronald, Hagstrom, Stephanie A, Kamatani, Yoichiro, Martin, Tammy M, Jiang, Yingda, Conley, Yvette, Sahel, Jose-Alan, Zack, Donald J, Chan, Chi-Chao, Pericak-Vance, Margaret A, Jacobson, Samuel G, Gorin, Michael B, Klein, Michael L, Allikmets, Rando, Iyengar, Sudha K, Weber, Bernhard H, Haines, Jonathan L, Léveillard, Thierry, Deangelis, Margaret M, Stambolian, Dwight, Weeks, Daniel E, Bhattacharya, Shomi S, Chew, Emily Y, Heckenlively, John R, Abecasis, Gonçalo R, Swaroop, Anand
المصدر: Human Molecular Genetics. 23(21)
مصطلحات موضوعية: Eye Disease and Disorders of Vision, Human Genome, Neurodegenerative, Genetics, Clinical Research, Macular Degeneration, Aging, 2.1 Biological and endogenous factors, Aetiology, Eye, Adult, Aged, Amino Acid Sequence, Bruch Membrane, DNA Mutational Analysis, Exome, Extracellular Matrix, Fibrillin-2, Fibrillins, Genetic Association Studies, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Meta-Analysis as Topic, Microfilament Proteins, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Protein Conformation, Protein Stability, Retina, Sequence Alignment, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4t34q41c
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5Academic Journal
المؤلفون: Sergouniotis, Panagiotis I, Chakarova, Christina, Murphy, Cian, Becker, Mirjana, Lenassi, Eva, Arno, Gavin, Lek, Monkol, MacArthur, Daniel G, Consortium, UCL-Exomes, Bhattacharya, Shomi S, Moore, Anthony T, Holder, Graham E, Robson, Anthony G, Wolfrum, Uwe, Webster, Andrew R, Plagnol, Vincent
المصدر: American Journal of Human Genetics. 94(5)
مصطلحات موضوعية: Clinical Research, Neurodegenerative, Genetics, Eye Disease and Disorders of Vision, Rare Diseases, Neurosciences, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Eye, Adult, Alleles, Animals, Carrier Proteins, Female, Genes, Recessive, Genetic Variation, Humans, Male, Mice, Middle Aged, Mutation, Pedigree, Peptide Synthases, Retinal Dystrophies, UCL-Exomes Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Berry, Vanita, Gregory-Evans, Cheryl, Emmett, Warren, Waseem, Naushin, Raby, Jacob, Prescott, DeQuincy, Moore, Anthony T, Bhattacharya, Shomi S
المصدر: European Journal of Human Genetics. 21(12)
مصطلحات موضوعية: Pediatric, Clinical Research, Eye Disease and Disorders of Vision, Biotechnology, Genetics, Human Genome, Base Sequence, Cataract, Exons, Female, Genes, Dominant, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Introns, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Missense, Pedigree, Polymorphism, Single Nucleotide, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0zt834rs
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7Academic Journal
المؤلفون: Ajana, Soufiane, Cougnard-Grégoire, Audrey, Colijn, Johanna M., Merle, Bénédicte M.J., Verzijden, Timo, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Hejblum, Boris P., Korobelnik, Jean-François, Meester-Smoor, Magda A., Ueffing, Marius, Jacqmin-Gadda, Hélène, Klaver, Caroline C.W., Delcourt, Cécile, Acar, Erkin I., Arango-Gonzalez, Blanca, Armento, Angela, Badura, Franz, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Calado, Sofia M., Dammeier, Sascha, de Breuk, Anita, De la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kilger, Ellen, Kortvely, Elod, Lastrucci, Claire, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodriguez-Bocanegra, Eduardo, Serrano, Luis, Sousa, Jose
المساهمون: European Commission
المصدر: Ophthalmology ; volume 128, issue 4, page 587-597 ; ISSN 0161-6420
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8Academic Journal
المؤلفون: Berry, Vanita, Francis, Peter J, Prescott, Quincy, Waseem, Naushin H, Moore, Anthony T, Bhattacharya, Shomi S
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Human Genome, Genetics, Clinical Research, Biotechnology, Cataract, Chromosomes, Human, Pair 10, Cytosine, Exons, Gene Deletion, Genes, Dominant, Genetic Linkage, Genetic Markers, Haplotypes, Homeodomain Proteins, Humans, Lod Score, Pedigree, Transcription Factors, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Mackay, Donna S, Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H, Li, Zheng, Wright, Genevieve A, Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A, Bhattacharya, Shomi S, Holder, Graham E, Webster, Andrew R, Moore, Anthony T
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Clinical Research, Brain Disorders, Neurodegenerative, Genetics, Biotechnology, Eye Disease and Disorders of Vision, Neurosciences, Pediatric, Eye, Age of Onset, Alcohol Oxidoreductases, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Exons, Eye Proteins, Female, Genetic Linkage, Genetic Testing, Genotype, Humans, Infant, Leber Congenital Amaurosis, Male, Mutation, Oligonucleotide Array Sequence Analysis, Pedigree, Phenotype, Polymerase Chain Reaction, Retina, Retinal Degeneration, Retinitis Pigmentosa, United Kingdom, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Mackay, Donna S, Henderson, Robert H, Sergouniotis, Panagiotis I, Li, Zheng, Moradi, Phillip, Holder, Graham E, Waseem, Naushin, Bhattacharya, Shomi S, Aldahmesh, Mohammed A, Alkuraya, Fowzan S, Meyer, Brian, Webster, Andrew R, Moore, Anthony T
مصطلحات موضوعية: Fundus Oculi, Humans, Retinitis Pigmentosa, Genetic Predisposition to Disease, Receptor Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Electrophoresis, Agar Gel, Polymerase Chain Reaction, Pedigree, DNA Mutational Analysis, Family, Age of Onset, Haplotypes, Mutation, Polymorphism, Single Nucleotide, Genome, Human, Exons, Adolescent, Adult, Child, Female, Male, Young Adult, Leber Congenital Amaurosis, c-Mer Tyrosine Kinase, Electrophoresis, Agar Gel, Polymorphism, Single Nucleotide, Genome, Human, Ophthalmology & Optometry, Opthalmology and Optometry
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0037f4t1
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11Academic Journal
المؤلفون: Henderson, Robert H, Li, Zheng, Abd El Aziz, Mai M, Mackay, Donna S, Eljinini, Mohammad A, Zeidan, Marwan, Moore, Anthony T, Bhattacharya, Shomi S, Webster, Andrew R
مصطلحات موضوعية: Fundus Oculi, Humans, Retinal Degeneration, Cadherins, Nerve Tissue Proteins, Electroretinography, Pedigree, DNA Mutational Analysis, Family, Chromosome Segregation, Amino Acid Sequence, Base Sequence, Protein Structure, Tertiary, Mutation, Alleles, Exons, Models, Molecular, Molecular Sequence Data, Adult, Female, Male, Protein Structure, Tertiary, Models, Molecular, Ophthalmology & Optometry, Opthalmology and Optometry
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8d6370mt
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12Academic Journal
المؤلفون: Valdés Sánchez, Lourdes, Calado, Sofía M., Cerda, Berta De la, Aramburu, Ana, García Delgado, Ana Belén, Massalini, Simone, Montero Sánchez, Adoración, Bhatia, Vaibhav, Rodríguez Bocanegra, Eduardo, Diez Lloret, Andrea, Rodríguez Martínez, Daniel, Chakarova, Christina, Bhattacharya, Shomi S., Díaz Corrales, Francisco Javier
المساهمون: Universidad de Sevilla. Departamento de Genética
مصطلحات موضوعية: HSP70, PRPF31, Retinal degeneration, Retinal pigment epithelium, Retinitis pigmentosa
Relation: Molecular Medicine, 26 (1), 1-22.; https://doi.org/10.1186/s10020-019-0124-z; https://idus.us.es/handle//11441/96461
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13Academic Journal
المؤلفون: Law, Ah-Lai, Parinot, Celia, Chatagnon, Jonathan, Gravez, Basile, Sahel, Jose-Alain, Bhattacharya, Shomi S., Nandrot, Emeline F.
المساهمون: Sorbonne Universite, University College London, Andalusian Center of Molecular Biology and Regenerative Medicine
مصطلحات موضوعية: phagocytosis, Subject Categories::C131 Applied Cell Biology
Relation: https://www.jbc.org/content/290/8/4941.long; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335232/; Law AL, Parinot C, Chatagnon J, Gravez B, Sahel JA, Bhattacharya SS, Nandrot EF (2015) 'Cleavage of mer tyrosine kinase (MerTK) from the cell surface contributes to the regulation of retinal phagocytosis', Journal of Biological Chemistry, 290 (8), pp.4941-4952.; http://hdl.handle.net/10547/624685; Journal of Biological Chemistry; PMC4335232
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14Academic Journal
المؤلفون: Waseem, Naushin H., Low, Sancy, Shah, Amna Z., Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A., Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P., Ruddle, Jonathan B., Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J., Garway-Heath, David F., Khaw, Peng T., Bhattacharya, Shomi S., Waseem, Ahmad, Foster, Paul J.
المصدر: Waseem , N H , Low , S , Shah , A Z , Avisetti , D , Ostergaard , P , Simpson , M , Niemiec , K A , Martin-Martin , B , Aldehlawi , H , Usman , S , Lee , P S , Khawaja , A P , Ruddle , J B , Shah , A , Sackey , E , Day , A , Jiang , Y , Swinfield , G , Viswanathan , A , Alfano , G , Chakarova , C , Cordell , H J , Garway-Heath , D F ....
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15Academic Journal
المؤلفون: Acar, İlhan E., Lores-Motta, Laura, Colijn, Johanna M., Meester-Smoor, Magda A., Verzijden, Timo, Cougnard-Gregoire, Audrey, Ajana, Soufiane, Merle, Benedicte M.J., de Breuk, Anita, Heesterbeek, Thomas J., van den Akker, Erik, Daha, Mohamed R., Claes, Birte, Pauleikhoff, Daniel, Hense, Hans-Werner, van Duijn, Cornelia M., Fauser, Sascha, Hoyng, Carel B., Delcourt, Cécile, Klaver, Caroline C.W., Galesloot, Tessel E., den Hollander, Anneke I., Arango-Gonzalez, Blanca, Armento, Angela, Badura, Franz, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Calado, Sofia M., Dammeier, Sascha, Cerda, Berta De la, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Honisch, Sabina, Kilger, Ellen, Kortvely, Elod, Lastrucci, Claire, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodriguez-Bocanegra, Eduardo
المساهمون: European Commission, Nederlandse Organisatie voor Wetenschappelijk Onderzoek
المصدر: Ophthalmology ; volume 127, issue 12, page 1693-1709 ; ISSN 0161-6420
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16Academic Journal
المؤلفون: Boiadjieva Knöpfel, Emilia, Vilches, Clara, Camargo, Simone M R, Errasti-Murugarren, Ekaitz, Stäubli, Andrina, Mayayo, Clara, Munier, Francis L, Miroshnikova, Nataliya, Poncet, Nadège, Junza, Alexandra, Bhattacharya, Shomi S, Prat, Esther, Berry, Vanita, Berger, Wolfgang, Heon, Elise, Moore, Anthony T, Yanes, Óscar, Nunes, Virginia, Palacín, Manuel, Verrey, Francois, Kloeckener-Gruissem, Barbara
المصدر: Boiadjieva Knöpfel, Emilia; Vilches, Clara; Camargo, Simone M R; Errasti-Murugarren, Ekaitz; Stäubli, Andrina; Mayayo, Clara; Munier, Francis L; Miroshnikova, Nataliya; Poncet, Nadège; Junza, Alexandra; Bhattacharya, Shomi S; Prat, Esther; Berry, Vanita; Berger, Wolfgang; Heon, Elise; Moore, Anthony T; Yanes, Óscar; Nunes, Virginia; Palacín, Manuel; Verrey, Francois; Kloeckener-Gruissem, Barbara (2019). Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Frontiers in Physiology, 10:688.
مصطلحات موضوعية: Institute of Physiology, Neuroscience Center Zurich, Zurich Center for Integrative Human Physiology (ZIHP), Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/171531/1/Boiadjieva_Knopfel_et_al_Frontiers_in_Physiology_2019.pdf; info:pmid/31231240; urn:issn:1664-042X
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17Academic Journal
المؤلفون: Czub, Barbara, Shah, Amna Z., Alfano, Giovanna, Kruczek, P.M., Chakarova, Christina, Bhattacharya, Shomi S.
Relation: PLoS ONE, 11, 1-20.; https://doi.org/10.1371/journal.pone.0148678; https://idus.us.es/handle//11441/81477
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18Academic Journal
المؤلفون: Calado, Sofía M., García-Delgado, Ana B., Cerda, Berta De la, Ponte-Zuñiga, Beatriz, Bhattacharya, Shomi S., Díaz Corrales, Francisco Javier
المساهمون: Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Cellex Foundation, Junta de Andalucía
وصف الملف: application/pdf
Relation: Stem Cell Research, 33, 251-254.; https://doi.org/10.1016/j.scr.2018.11.002
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19Academic Journal
المؤلفون: Merle, Bénédicte M.J., Colijn, Johanna M., Cougnard-Grégoire, Audrey, de Koning-Backus, Alexandra P.M., Delyfer, Marie-Noëlle, Kiefte-de Jong, Jessica C., Meester-Smoor, Magda, Féart, Catherine, Verzijden, Timo, Samieri, Cécilia, Franco, Oscar H., Korobelnik, Jean-François, Klaver, Caroline C.W., Delcourt, Cécile, Ajana, Soufiane, Arango-Gonzalez, Blanca, Armento, Angela, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Monés, Jordi
المساهمون: European Union’s Horizon 2020 Research and Innovation Programme, Erasmus Medical Center and Erasmus University, Health Research and Development, Research Institute for Diseases in the Elderly, Ministry of Education, Culture and Science, Ministry for Health, Welfare and Sports, European Commission, Municipality of Rotterdam, Agence Nationale de la Recherche
المصدر: Ophthalmology ; volume 126, issue 3, page 381-390 ; ISSN 0161-6420
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20Academic Journal
المؤلفون: Babu, Vishnu Suresh, Mallipatna, Ashwin, Dudeja, Gagan, Shetty, Rohit, Nair, Archana Padmanabhan, Tun, Sai Bo Bo, Ho, Candice Ee Hua, Chaurasia, Shyam S., Bhattacharya, Shomi S., Verma, Navin Kumar, Lakshminarayanan, Rajamani, Guha, Nilanjan, Heymans, Stephane, Barathi, Veluchamy Amutha, Ghosh, Arkasubhra
المصدر: Babu , V S , Mallipatna , A , Dudeja , G , Shetty , R , Nair , A P , Tun , S B B , Ho , C E H , Chaurasia , S S , Bhattacharya , S S , Verma , N K , Lakshminarayanan , R , Guha , N , Heymans , S , Barathi , V A & Ghosh , A 2023 , ' Depleted hexokinase1 and lack of AMPKα activation favor OXPHOS-dependent energetics in retinoblastoma tumors ' , Translational Research , vol. 261 , no. 1 , pp. 41-56 . ....
مصطلحات موضوعية: AMPKa, Cancer, Glycolysis, Hexokinase-1, Oxidative phosphorylation, Retinoblastoma