المؤلفون: ZHENG Chaoqun, CUI Geping, REN Xiuzhi, ZHAO Xiuli

المصدر: Jichu yixue yu linchuang, Vol 44, Iss 11, Pp 1504-1509 (2024)

مصطلحات موضوعية: gnathodiaphyseal dysplasia, whole exome sequencing, ano5, variants, Medicine

وصف الملف: electronic resource

Relation: https://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-11-1504.pdf; https://doaj.org/toc/1001-6325

URL الوصول: https://doaj.org/article/3048d3f91c524cbaad77fd8429a9a3c0

المؤلفون: Hongyu Li, Shengnan Wang, Shuai Zhang, Rui Dong, Congcong Miao, Zhenchuan Tian, Ying Hu

المصدر: Bone Reports, Vol 24, Iss , Pp 101825- (2025)

مصطلحات موضوعية: Ano5, GDD, Akt, Osteoblast, Osteoclast, Diseases of the musculoskeletal system, RC925-935

Relation: http://www.sciencedirect.com/science/article/pii/S2352187225000026; https://doaj.org/toc/2352-1872; https://doaj.org/article/49936fe5f98145f2b83faa0176d2c982

الاتاحة: https://doi.org/10.1016/j.bonr.2025.101825
https://doaj.org/article/49936fe5f98145f2b83faa0176d2c982

المؤلفون: Lothar Seefried, Nathalie Bravenboer, Erik A. Imel

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: osteogenesis imperfecta, X-linked hypophosphataemia (XLH), ANO5 gene, rare skeletal disorders, bone diseases, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1215941/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/b78393f2c69246a196fe2d04d51f67de

المؤلفون: Haiwen Li, Li Xu, Yandi Gao, Yuanbojiao Zuo, Zuocheng Yang, Lingling Zhao, Zhiheng Chen, Shuliang Guo, Renzhi Han

المصدر: Cell & Bioscience, Vol 11, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: ANO5, BioID2, BVES, Muscle differentiation, Muscular dystrophy, Proximity labeling, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-3701

URL الوصول: https://doaj.org/article/99cd3c1a60db422eb807ecc673406573

المؤلفون: Hongyu Li, Sirui Liu, Congcong Miao, Yan Lv, Ying Hu

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: Gnathodiaphyseal dysplasia, ANO5, metabolomics, transcriptomics, cell proliferation, calcium, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1117111/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/9f254b505c634cef8f0f3d4b85b45325

المؤلفون: Silantieva, A. D., Ovsova, O. V., Силантьева, А. Д., Овсова, О. В.

المصدر: Сборник статей

مصطلحات موضوعية: LIMB – GIRDLE MUSCULAR DYSTROPHY, ANO5, CLINICAL CASE, ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, КЛИНИЧЕСКИЙ СЛУЧАЙ

وصف الملف: application/pdf

Relation: Актуальные вопросы современной медицинской науки и здравоохранения: сборник статей VIII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 19-20 апреля 2023 г.; Силантьева, А. Д. Клинический случай поясно-конечностной дистрофии R12 типа, ANO 5 / А. Д. Силантьева, О. В. Овсова. - Текст электронный. // Актуальные вопросы современной медицинской науки и здравоохранения: сборник статей VIII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 19-20 апреля 2023 г. – Екатеринбург : УГМУ, 2023. – C. 2127-2132.; http://elib.usma.ru/handle/usma/14335

الاتاحة: http://elib.usma.ru/handle/usma/14335

المؤلفون: Olga Blagova, Yulia Lutokhina, Marina Vukolova, Sergey Pirozhkov, Natalia Sarkisova, Dilara Ainetdinova, Anushree Das, Marina Krot, Vera Smolyannikova, Petr Litvitsky, Elena Zaklyazminskaya, Evgeniya Kogan

المصدر: Genes; Volume 14; Issue 7; Pages: 1332

مصطلحات موضوعية: anoctamin 5, ANO5, NM_213599:c.2272C>T, hypertrophic cardiomyopathy, anticardiac antibodies, COVID-19, myopericarditis, myocarditis, arrhythmia, Miyoshi-like distal myopathy, heart failure

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14071332

الاتاحة: https://doi.org/10.3390/genes14071332

المؤلفون: Seefried, Lothar, Bravenboer, Nathalie, Imel, Erik A.

المساهمون: Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: ANO5 gene, X-linked hypophosphataemia (XLH), Bone diseases, Osteogenesis imperfecta, Rare skeletal disorders

وصف الملف: application/pdf

Relation: Frontiers in Endocrinology; Seefried L, Bravenboer N, Imel EA. Editorial: Rare musculoskeletal disorders: disease mechanisms and therapies. Front Endocrinol (Lausanne). 2023;14:1215941. Published 2023 May 24. doi:10.3389/fendo.2023.1215941; https://hdl.handle.net/1805/38180

الاتاحة: https://hdl.handle.net/1805/38180

المؤلفون: Vahid Reza Yassaee, Arash Khojasteh, Farzad Hashemi‐Gorji, Hossein Sadeghi, Hannaneh Safiaghdam, Reza Mirfakhraie

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)

مصطلحات موضوعية: ANO5, bone dysplasia, bone fractures, exome sequencing, gnathodiaphyseal dysplasia (GDD), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/abae4830d9db4093b847120460aa99d1

المؤلفون: Matthew Katz, Fleur C. Garton, Mark Davis, Robert D. Henderson, Pamela A. McCombe

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: case report, limb girdle muscular dystrophy, ANO5, novel variant, next generation sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.868655/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/8485d9374a80447086d34d1b3933367b

المؤلفون: Depuydt, Christophe E., Goosens, Veerle, Janky, Rekin’s, D’Hondt, Ann, De Bleecker, Jan, Noppe, Nathalie, Derveaux, Stefaan, Thal, Dietmar R., Claeys, Kristl G.

المصدر: CELLS ; ISSN: 2073-4409

مصطلحات موضوعية: Medicine and Health Sciences, General Medicine, fibroadipogenic progenitors, muscle biopsy, selective muscle involvement, gene signatures, transcriptomics, RNA-seq, muscle dystrophy, LGMD2L, ANO5, anoctamin-5

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HHPPER4S8PD4Y4E23GX2BF3J; http://hdl.handle.net/1854/LU-01HHPPER4S8PD4Y4E23GX2BF3J; http://doi.org/10.3390/cells11091508; https://biblio.ugent.be/publication/01HHPPER4S8PD4Y4E23GX2BF3J/file/01HHPPXFDFGZ65CBF0K8J7DT0K

الاتاحة: https://biblio.ugent.be/publication/01HHPPER4S8PD4Y4E23GX2BF3J
http://hdl.handle.net/1854/LU-01HHPPER4S8PD4Y4E23GX2BF3J
https://doi.org/10.3390/cells11091508
https://biblio.ugent.be/publication/01HHPPER4S8PD4Y4E23GX2BF3J/file/01HHPPXFDFGZ65CBF0K8J7DT0K

المؤلفون: Pannathat Soontrapa, Teerin Liewluck

المصدر: Genes; Volume 13; Issue 10; Pages: 1736

مصطلحات موضوعية: ANO5, anoctamin 5, anoctaminopathy, LGMD, LGMDR12, limb–girdle muscular dystrophy, Miyoshi myopathy, MMD3

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13101736

الاتاحة: https://doi.org/10.3390/genes13101736

المؤلفون: Haiwen Li (1707361), Li Xu (108702), Yandi Gao (3500792), Yuanbojiao Zuo (11884558), Zuocheng Yang (3998012), Lingling Zhao (488465), Zhiheng Chen (4320298), Shuliang Guo (7346624), Renzhi Han (11143171)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Biotechnology, Developmental Biology, Inorganic Chemistry, Plant Biology, Virology, Computational Biology, ANO5, BioID2, BVES, Muscle differentiation, Muscular dystrophy, Proximity labeling

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_BVES_is_a_novel_interactor_of_ANO5_and_regulates_myoblast_differentiation/17701531

الاتاحة: https://doi.org/10.6084/m9.figshare.17701531.v1

المؤلفون: Holm-Yildiz, Sonja, Witting, Nanna, de Stricker Borch, Josefine, Kass, Konni, Khawajazada, Tahmina, Krag, Thomas, Vissing, John

المصدر: Holm-Yildiz , S , Witting , N , de Stricker Borch , J , Kass , K , Khawajazada , T , Krag , T & Vissing , J 2021 , ' Muscle biopsy and MRI findings in ANO5-related myopathy ' , Muscle and Nerve , vol. 64 , no. 6 , pp. 743-748 . https://doi.org/10.1002/mus.27419

مصطلحات موضوعية: ANO5, anoctaminopathy, inflammatory myopathy, LGMD2L, LGMDR12

وصف الملف: application/pdf

الاتاحة: https://curis.ku.dk/portal/da/publications/muscle-biopsy-and-mri-findings-in-ano5related-myopathy(b8934bb5-eee7-4bc1-8181-18f35e652d21).html
https://doi.org/10.1002/mus.27419
https://curis.ku.dk/ws/files/286302137/Muscle_biopsy_and_MRI_findings_in_ANO5_related_myopathy.pdf

المؤلفون: Tim Rolvien, Osman Avci, Simon von Kroge, Till Koehne, Stefan Selbert, Stephan Sonntag, Doron Shmerling, Uwe Kornak, Ralf Oheim, Michael Amling, Thorsten Schinke, Timur Alexander Yorgan

المصدر: Bone Reports, Vol 12, Iss , Pp 100281- (2020)

مصطلحات موضوعية: Ano5, Gnathodiaphyseal dysplasia, Mouse model, Skeletal disorder, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187220300413; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/0680a50d4a4a43ddb73b5ae33b998844

المؤلفون: Rainer Schreiber, Jiraporn Ousingsawat, Karl Kunzelmann

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 11; Pages: 4065

مصطلحات موضوعية: ANO5, ANO8, ANO9, ANO10, TMEM16E, TMEM16H, TMEM16J, TMEM16K, scramblase, membrane blebbing, P2X7R, purineric signaling

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms21114065

الاتاحة: https://doi.org/10.3390/ijms21114065

المؤلفون: Lingling Zhao, Chen Zhiheng, Haiwen Li, Jacky Shuliang Guo, Yang Zuocheng, Yandi Gao, Yuanbojiao Zuo, Li Xu, Han Renzhi

المصدر: Cell & Bioscience, Vol 11, Iss 1, Pp 1-10 (2021)
Cell & Bioscience

مصطلحات موضوعية: QH301-705.5, Research, BioID2, QD415-436, Biology, ANO5, Muscular dystrophy, Biochemistry, General Biochemistry, Genetics and Molecular Biology, Cell biology, Proximity labeling, Myocyte, Interactor, BVES, Biology (General), TP248.13-248.65, Muscle differentiation, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca9b748d2a9efcb79b32e21ba071ba9
https://doaj.org/article/99cd3c1a60db422eb807ecc673406573

المؤلفون: Santos, Rosário, Vieira, Emília, Moutinho, Ariana, Oliveira, Jorge, Negrão, Luís, Bronze-da-Rocha, Elsa

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: ANO5, LGMD, Adult Onset, Doenças Genéticas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/658

المؤلفون: Hongyu Li, Sirui Liu, Congcong Miao, Yan Lv, Ying Hu

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, Gnathodiaphyseal dysplasia, ANO5, metabolomics, transcriptomics, cell proliferation, calcium, osteogenesis

Relation: https://figshare.com/articles/dataset/DataSheet_1_Integration_of_metabolomics_and_transcriptomics_provides_insights_into_enhanced_osteogenesis_in_Ano5Cys360Tyr_knock-in_mouse_model_docx/21929451

الاتاحة: https://doi.org/10.3389/fendo.2023.1117111.s001
https://figshare.com/articles/dataset/DataSheet_1_Integration_of_metabolomics_and_transcriptomics_provides_insights_into_enhanced_osteogenesis_in_Ano5Cys360Tyr_knock-in_mouse_model_docx/21929451

المؤلفون: Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I., Udd, B.

المساهمون: Lääketieteen ja biotieteiden tiedekunta - Faculty of Medicine and Life Sciences, University of Tampere

مصطلحات موضوعية: ANO5, DMM3, LGMD2L, Limb-Girdle Muscular Dystrophy, Lääketieteen bioteknologia - Medical biotechnology

وصف الملف: fulltext; 441-448

Relation: Neuropathology and Applied Neurobiology; 44; https://trepo.tuni.fi/handle/10024/104116; URN:NBN:fi:uta-201808242385

الاتاحة: https://trepo.tuni.fi/handle/10024/104116