المؤلفون: Koponen, Annika, Pan, Guoping, Kivelä, Annukka M., Ralko, Arthur, Taskinen, Juuso H., Arora, Amita, Kosonen, Riikka, Kari, Otto K., Ndika, Joseph, Ikonen, Elina, Cho, Wonhwa, Yan, Daoguang, Olkkonen, Vesa M.

المساهمون: Medicum, Faculty of Pharmacy, Research Services, Biopharmaceutics Group, Division of Pharmaceutical Biosciences, Drug Delivery Unit, Drug Research Program, HUMI - Human Microbiome Research, Faculty of Medicine, Lipid Trafficking Lab, Department of Anatomy

مصطلحات موضوعية: angiogenesis, cholesterol trafficking, Osbpl2, VEGF receptor, OXYSTEROL-BINDING-PROTEIN, GROWTH-FACTOR, VE-CADHERIN, SUPPRESSES ANGIOGENESIS, MAMMALIAN TARGET, UP-REGULATION, LIPID RAFTS, MEMBRANE, RECEPTOR, TRAFFICKING, Biomedicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: Academy of Finland (Suomen Akatemia), Grant/Award Number: 285223, 322647, 282192 and 307415; The Sigrid Juselius Foundation; The Magnus Ehrnrooth Foundation; The Finnish Foundation for Cardiovascular Research; The Emil Aaltonen Foundation; The Ida Montin Foundation; The National Institutes of Health, Grant/Award Number: R35GM122530; NSFC, China, Grant/Award Number: 8170438 and 91439122; The Leducq Foundation for Cardiovascular Research.; Koponen , A , Pan , G , Kivelä , A M , Ralko , A , Taskinen , J H , Arora , A , Kosonen , R , Kari , O K , Ndika , J , Ikonen , E , Cho , W , Yan , D & Olkkonen , V M 2020 , ' ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells ' , FASEB Journal , vol. 34 , no. 11 , pp. 14671-14694 . https://doi.org/10.1096/fj.202000202R; RIS: urn:7C8A974E527D95D00B4285661ADB8855; ORCID: /0000-0001-8382-1135/work/125974479; ORCID: /0000-0002-1201-5010/work/125976699; ORCID: /0000-0002-3348-9661/work/125978303; ORCID: /0000-0003-0669-1300/work/125978837; ORCID: /0000-0002-4348-9550/work/125979356; http://hdl.handle.net/10138/352495; 4d572540-4ce1-4583-857d-656ca66bc968; 000570302100001

الاتاحة: http://hdl.handle.net/10138/352495

المساهمون: Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, Byunghwa Noh, Hye Ji Choi, Sun Young Joo, John Hoon Rim, Hye-Youn Kim, Dong Yun Kim, Seyoung Yu, Da Hye Kim, Sang-Guk Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee, Kim, Hye-Youn

مصطلحات موضوعية: Animals, Autophagy / genetics, Deafness* / genetics, HEK293 Cells, Humans, Mice, Knockout, Transgenic, Mutant Proteins, Mutation / genetics, Receptors, Steroid* / genetics, Sirolimus / pharmacology, Autophagy, DFNA67, OSBPL2, hearing loss, rapamycin

وصف الملف: application/pdf

Relation: AUTOPHAGY; J00269; OAK-2022-08523; OAK-2022-08524; OAK-2022-08525; OAK-2022-08526; OAK-2022-08527; OAK-2022-08528; https://ir.ymlib.yonsei.ac.kr/handle/22282913/192297; T202205604; AUTOPHAGY, Vol.18(11) : 2593-2614, 2022-11

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/192297
https://doi.org/10.1080/15548627.2022.2040891

المؤلفون: Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Hereditary late-onset deafness, Whole genome sequencing, OSBPL2 gene, Co-segregation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0781-3; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/9dfd6591d59b42179328fe8f6855af3a

المؤلفون: Cheng-Wei Chou, Yu-Hsiu Hsieh, Su-Chi Ku, Wan-Jou Shen, Gangga Anuraga, Hoang Dang Khoa Khoa Ta, Kuen-Haur Lee, Yu-Cheng Lee, Cheng-Hsien Lin, Chih-Yang Wang, Wei-Jan Wang

المصدر: Biomedicines; Volume 9; Issue 11; Pages: 1601

مصطلحات موضوعية: pancreatic ductal adenocarcinoma, biomarker, OSBPL2, OSBPL3, OSBPL5, OSBPL6, OSBPL7, OSBPL8, OSBPL9, OSBPL10, OSBPL11

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/biomedicines9111601

الاتاحة: https://doi.org/10.3390/biomedicines9111601

المؤلفون: Takahashi, Kohta, Kanerva, Kristiina, Vanharanta, Lauri, Almeida-Souza, Leonardo, Lietha, Daniel, Olkkonen, Vesa M., Ikonen, Elina

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Department of Anatomy, Helsinki Institute of Life Science HiLIFE, Institute of Biotechnology, Faculty of Biological and Environmental Sciences, Lipid Trafficking Lab

مصطلحات موضوعية: cholesterol trafficking, focal adhesion kinase, oxysterol-binding protein-related protein, phosphoinositides, recycling, LOW-DENSITY-LIPOPROTEIN, INTEGRIN ACTIVATION, PLASMA-MEMBRANE, HEARING-LOSS, TRAFFICKING, NPC1, PROTEIN, OSBPL2, COMPLEXES, TRIGGERS, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: We thank Anna Uro for excellent technical assistance, Shiqian Li for help in establishing degron-ORP2 cells, Yosuke Senju for help in liposome assays, Young Ah Kim for BODIPY-cholesteryl linoleate, Mikko Liljestrom for help with image analysis, and Biocenter Finland and HiLIFE for infrastructure support (BioImaging platform, Flow cytometry unit). This study was supported by the Academy of Finland (grants 307415 and 324929 to E.I., 322647 to V.M.O.), Sigrid Juselius Foundation (E.I., V.M.O., L. A.-S.), Fondation Leducq (grant 19CVD04) (E.I.), Jane and Aatos Erkko Foundation (E.I.), Magnus Ehrnrooth Foundation (K.T., V.M.O.), and the Finnish Foundation for Cardiovascular Research (V.M.O.). L.-A.S. acknowledges support from Helsinki Institute of Life Science (HiLIFE, start-up grant) and D.L. from the Ministry of Science, Innovation and Universities for the Spanish State Research Agency Retos Grant RTI2018-099318-B-I00, cofounded by the European Regional Development Fund (FEDER).; Takahashi , K , Kanerva , K , Vanharanta , L , Almeida-Souza , L , Lietha , D , Olkkonen , V M & Ikonen , E 2021 , ' ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P-2 exchange ' , EMBO Journal , vol. 40 , no. 14 , 106871 . https://doi.org/10.15252/embj.2020106871; ORCID: /0000-0001-8382-1135/work/98322789; ORCID: /0000-0003-1680-9448/work/98323740; ORCID: /0000-0002-7169-1238/work/98326026; http://hdl.handle.net/10138/335038; 113bf19a-c264-4041-aa29-928bc97f670a; 000661099300001

الاتاحة: http://hdl.handle.net/10138/335038

المؤلفون: Kentala, Henriikka, Koponen, Annika, Kivelä, Annukka M., Andrews, Robert, Li, ChunHei, Zhou, You, Olkkonen, Vesa M.

المساهمون: Medicum, Department of Anatomy, University of Helsinki

مصطلحات موضوعية: CRISPR-Cas9, F-actin, interactome, OSBPL2, RNA sequencing, OXYSTEROL-BINDING-PROTEIN, CELLULAR CHOLESTEROL-METABOLISM, OSBP-RELATED PROTEIN-2, HEARING-LOSS, STEROL TRANSPORT, PLASMA-MEMBRANE, LIPID DROPLETS, EXPRESSION, ER, CELLS, Biomedicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: The authors thank Eeva Jaaskelainen and Riikka Kosonen (Minerva Foundation Institute for Medical Research, Helsinki, Finland) for expert technical assistance; Sarah Edkins and Kevin Ashelford (Wales Gene Park, Cardiff, United Kingdom) for technical support; the Advanced Computing Research Team (Cardiff University) for high-throughput computer support; BioMediTech Protein Technologies core facility, a member of Biocenter Finland and Instruct-FI, the Helsinki University Genome Biology Unit, and the Biomedicum Functional Genomics Unit (HiLIFE Institute, Helsinki, Finland) for the use of the facilities and expertise. Dr. Shiqian Li (University of Helsinki) is thanked for kindly providing the CRISPR-Cas9 vectors. This study was supported by the Academy of Finland (Grant 285223; to V.M.O.); by the University of Helsinki Doctoral Programme in Biomedicine, the Finnish Concordia Fund, the Ida Montin Foundation; the Finnish Norwegian Medical Foundation, and the Aarne Koskelo Foundation (to H.K.); the Sigrid Juselius Foundation, the Magnus Ehrnrooth Foundation, and the Finnish Foundation for Cardiovascular Research (to V.M.O.); and Systems Immunity Research Institute Seedcorn Funding (to Y.Z.). The authors declare no conflicts of interest.; Kentala , H , Koponen , A , Kivelä , A M , Andrews , R , Li , C , Zhou , Y & Olkkonen , V M 2018 , ' Analysis of ORP2-knockout hepatocytes uncovers a novel function in actin cytoskeletal regulation ' , FASEB Journal , vol. 32 , no. 3 , pp. 1281-1295 . https://doi.org/10.1096/fj.201700604R; ORCID: /0000-0002-3348-9661/work/66367029; http://hdl.handle.net/10138/233965; d74270f8-a1b8-454a-83f8-a7beecc53b46; 85043506534; 000427246000014

الاتاحة: http://hdl.handle.net/10138/233965

المؤلفون: Kentala, Henriikka, Koponen, Annika, Vihinen, Helena, Pirhonen, Juho, Liebisch, Gerhard, Pataj, Zoltan, Kivelä, Annukka, Li, Shiqian, Karhinen, Leena, Jääskeläinen, Eeva, Andrews, Robert, Meriläinen, Leena, Matysik, Silke, Ikonen, Elina, Zhou, You, Jokitalo, Eija, Olkkonen, Vesa M.

المساهمون: Institute of Biotechnology, Electron Microscopy, University of Helsinki, Medicum, Department of Anatomy, Faculty of Medicine, Research Services, Lipid Trafficking Lab

مصطلحات موضوعية: Akt signaling, CRISPR-Cas9, Glycolysis, OSBPL2, OSBP-related protein, Triacylglycerol, OXYSTEROL-BINDING PROTEINS, LIPID DROPLETS, PHOSPHATIDYLSERINE TRANSPORT, TRIACYLGLYCEROL SYNTHESIS, CHOLESTEROL-METABOLISM, MAMMALIAN-CELLS, PLASMA-MEMBRANE, GLUCOSE-UPTAKE, ER, STEROL, Biochemistry, cell and molecular biology, Biomedicine

وصف الملف: application/pdf

Relation: This study was supported by grants from the Academy of Finland (285223 to V.M.O., 307415 and 312491 to E.I.), the University of Helsinki Doctoral Programme in Biomedicine (H.K.), the Finnish Concordia Fund (H.K.), the Ida Montin Foundation (H.K), the Finnish-Norwegian Medical Foundation (H.K.), the Aarne Koskelo Foundation (H.K.), the Orion Research Foundation sr (H.K.), the Paivikki and Sakari Sohlberg Foundation (H.K.), the Sigrid Juselius Foundation, the Magnus Ehrnrooth Foundation, and the Finnish Foundation for Cardiovascular Research (V.M.O.). Electron Microscopy Unit is supported by Biocenter Finland and Helsinki Institute of Life Science. The funding bodies played no role in the study design, analysis or interpretation of the data, writing of the report or the decision to submit the article for publication.; Kentala , H , Koponen , A , Vihinen , H , Pirhonen , J , Liebisch , G , Pataj , Z , Kivelä , A , Li , S , Karhinen , L , Jääskeläinen , E , Andrews , R , Meriläinen , L , Matysik , S , Ikonen , E , Zhou , Y , Jokitalo , E & Olkkonen , V M 2018 , ' OSBP-related protein-2 (ORP2) : a novel Akt effector that controls cellular energy metabolism ' , Cellular and Molecular Life Sciences , vol. 75 , no. 21 , pp. 4041-4057 . https://doi.org/10.1007/s00018-018-2850-8; ORCID: /0000-0003-3862-9237/work/49412519; ORCID: /0000-0002-4159-6934/work/49413419; ORCID: /0000-0001-8382-1135/work/54147912; ORCID: /0000-0001-5090-2254/work/59444206; ORCID: /0000-0002-3348-9661/work/66367030; http://hdl.handle.net/10138/250548; 19739361-3a61-4beb-b313-0688ab11f203; 85048359086; 000445868900011

الاتاحة: http://hdl.handle.net/10138/250548

المؤلفون: Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nürnberg, Gudrun, Nürnberg, Peter, Steel, Karen P., Knipper, Marlies, Bolz, Hanno Jörn

المصدر: Thoenes , M , Zimmermann , U , Ebermann , I , Ptok , M , Lewis , M A , Thiele , H , Morlot , S , Hess , M M , Gal , A , Eisenberger , T , Bergmann , C , Nürnberg , G , Nürnberg , P , Steel , K P , Knipper , M & Bolz , H J 2015 , ' OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) ' , Orphanet Journal of Rare Diseases , vol. ....

مصطلحات موضوعية: Autosomal dominant hearing loss, DFNA67, OSBPL2

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/ef5d23b7-d310-4e5a-bbf1-ebbf09246cf0
https://doi.org/10.1186/s13023-015-0238-5
https://kclpure.kcl.ac.uk/ws/files/54329127/OSBPL2_encodes_a_protein_THOENES_Accepted_3Feb2015_GOLD_VoR.pdf
http://www.scopus.com/inward/record.url?scp=84924187378&partnerID=8YFLogxK
http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0238-5

المؤلفون: Kristiina Kanerva, Lauri Vanharanta, Leonardo Almeida-Souza, Kohta Takahashi, Daniel Lietha, Elina Ikonen, Vesa M. Olkkonen

المساهمون: Academy of Finland, Fondation Leducq, Jane and Aatos Erkko Foundation, Magnus Ehrnrooth Foundation, Finnish Foundation for Cardiovascular Research, Helsinki Institute of Life Science, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), European Commission, Takahashi, Kohta [0000-0001-9499-9035], Kanerva, Kristiina [0000-0003-1680-9448], Vanharanta, Lauri [0000-0002-7902-0009], Almeida-Souza, Leonardo [0000-0002-7169-1238], Lietha, Daniel [0000-0002-6133-6486], Olkkonen, Vesa M. [0000-0001-5553-7997], Ikonen, Elina [0000-0001-8382-1135], STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Department of Anatomy, Helsinki Institute of Life Science HiLIFE, Institute of Biotechnology, Faculty of Biological and Environmental Sciences, Lipid Trafficking Lab, Takahashi, Kohta, Kanerva, Kristiina, Vanharanta, Lauri, Almeida-Souza, Leonardo, Lietha, Daniel, Olkkonen, Vesa M., Ikonen, Elina

المصدر: Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Endosome, Phosphoinositides, LOW-DENSITY-LIPOPROTEIN, PROTEIN, Endogeny, Biology, recycling, General Biochemistry, Genetics and Molecular Biology, Cholesterol trafficking, Focal adhesion, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, TRAFFICKING, Recycling, Lipid bilayer, Cell adhesion, Molecular Biology, 030304 developmental biology, 0303 health sciences, General Immunology and Microbiology, Cholesterol, INTEGRIN ACTIVATION, General Neuroscience, HEARING-LOSS, focal adhesion kinase, Focal adhesion kinase, Cell migration, phosphoinositides, TRIGGERS, 3. Good health, Cell biology, oxysterol-binding protein-related protein, NPC1, Oxysterol-binding protein-related protein, chemistry, cholesterol trafficking, PLASMA-MEMBRANE, OSBPL2, 1182 Biochemistry, cell and molecular biology, lipids (amino acids, peptides, and proteins), COMPLEXES, 030217 neurology & neurosurgery, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f1c9029a46a82836885a511d282d41c
http://hdl.handle.net/10261/243571

المؤلفون: Guoping Pan, Otto K. Kari, Riikka Kosonen, Arthur Ralko, Annika Koponen, Vesa M. Olkkonen, Annukka M. Kivelä, Daoguang Yan, Amita Arora, Elina Ikonen, Wonhwa Cho, Juuso H. Taskinen, Joseph Ndika

المساهمون: Medicum, Faculty of Pharmacy, Research Services, Biopharmaceutics Group, Division of Pharmaceutical Biosciences, Drug Delivery Unit, Drug Research Program, HUMI - Human Microbiome Research, Faculty of Medicine, Lipid Trafficking Lab, Department of Anatomy, Doctoral Programme in Biomedicine, Doctoral Programme in Integrative Life Science, Doctoral Programme in Drug Research, STEMM - Stem Cells and Metabolism Research Program, Biosciences

مصطلحات موضوعية: Phosphatidylinositol 4,5-Diphosphate, 0301 basic medicine, Receptors, Steroid, Angiogenesis, Osbpl2, UP-REGULATION, Biochemistry, angiogenesis, 0302 clinical medicine, Cell Movement, Lipid raft, Receptors, Notch, Chemistry, TOR Serine-Threonine Kinases, VEGF receptor, Sterol homeostasis, Cadherins, Cell biology, cholesterol trafficking, Signal transduction, Oxysterol-binding protein, Signal Transduction, Biotechnology, GROWTH-FACTOR, SUPPRESSES ANGIOGENESIS, Nitric Oxide Synthase Type III, Notch signaling pathway, Neovascularization, Physiologic, VE-CADHERIN, Endosomes, Caveolins, 03 medical and health sciences, Antigens, CD, Human Umbilical Vein Endothelial Cells, Genetics, Humans, TRAFFICKING, Molecular Biology, Protein kinase B, PI3K/AKT/mTOR pathway, RECEPTOR, Cell Membrane, Actins, Matrix Metalloproteinases, LIPID RAFTS, Receptors, Vascular Endothelial Growth Factor, 030104 developmental biology, MAMMALIAN TARGET, 1182 Biochemistry, cell and molecular biology, OXYSTEROL-BINDING-PROTEIN, 3111 Biomedicine, MEMBRANE, Proto-Oncogene Proteins c-akt, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f62e21565fe95a1958b8bbb87d2bf24d
http://hdl.handle.net/10138/352495

المؤلفون: Olkkonen, Vesa M., Koponen, Annika, Arora, Amita

المساهمون: Medicum, University Management, Faculty of Medicine, Department of Anatomy, University of Helsinki

مصطلحات موضوعية: Akt, CHOLESTEROL, Actin cytoskeleton, Energy metabolism, Triglyceride, STEROL, TRANSPORT, FAMILY, Cholesterol transport, ER, PLASMA-MEMBRANE, OSBPL2, LIPID DROPLETS, 1182 Biochemistry, cell and molecular biology, OXYSTEROL-BINDING-PROTEIN, BIOSYNTHESIS, OVEREXPRESSION, 3111 Biomedicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1593::8c5a3f8a64b50adbd6e06cbe669e6c63
http://hdl.handle.net/10138/306573

المؤلفون: Henriikka Kentala, Robert Andrews, Zoltán Pataj, Vesa M. Olkkonen, Eija Jokitalo, Juho Pirhonen, Silke Matysik, Leena Karhinen, Eeva Jääskeläinen, Leena Meriläinen, Shiqian Li, Annika Koponen, Helena Vihinen, You Zhou, Elina Ikonen, Annukka M. Kivelä, Gerhard Liebisch

المساهمون: Institute of Biotechnology, Electron Microscopy, University of Helsinki, Medicum, Department of Anatomy, Faculty of Medicine, Research Services, Lipid Trafficking Lab

مصطلحات موضوعية: 0301 basic medicine, Receptors, Steroid, OSBP-related protein, Chaperonins, Cell Cycle Proteins, STEROL, Gene Knockout Techniques, GSK-3, Cell Movement, MAMMALIAN-CELLS, Lipid droplet, Akt signaling, CHOLESTEROL-METABOLISM, biology, Chemistry, Hsp90, Cell biology, Actin Cytoskeleton, OSBPL2, Molecular Medicine, LIPID DROPLETS, CRISPR-Cas9, Glycolysis, Signal Transduction, Triacylglycerol, Cell Line, 03 medical and health sciences, Cellular and Molecular Neuroscience, Humans, HSP90 Heat-Shock Proteins, RNA, Messenger, Glycogen synthase, Molecular Biology, OSBP, Protein kinase B, Cell Proliferation, Pharmacology, Organelles, 030102 biochemistry & molecular biology, Endoplasmic reticulum, GLUCOSE-UPTAKE, Lipid metabolism, Biological Transport, TRIACYLGLYCEROL SYNTHESIS, Cell Biology, PHOSPHATIDYLSERINE TRANSPORT, Lipid Metabolism, 030104 developmental biology, ER, PLASMA-MEMBRANE, biology.protein, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, Energy Metabolism, Proto-Oncogene Proteins c-akt, OXYSTEROL-BINDING PROTEINS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b303677a08f933f22ed4019fde9404fe
http://hdl.handle.net/10138/250548

المؤلفون: Li Xing, Husile Husile, Yangjian Liu, Liqing Yang, Ningjin Wu, Wenyan Huo, Qizhu Wu, Haihua Bai, Yaning Cao

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, Receptors, Steroid, lcsh:QH426-470, Hearing loss, Genetic counseling, 030105 genetics & heredity, Biology, OSBPL2 gene, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Asian People, Hereditary late-onset deafness, Genetics, medicine, otorhinolaryngologic diseases, Humans, Genetic Predisposition to Disease, Age of Onset, lcsh:RC31-1245, Frameshift Mutation, Hearing Loss, Genetics (clinical), Genetic Association Studies, Whole genome sequencing, Sanger sequencing, Post-lingual deafness, Whole Genome Sequencing, Mongolia, Middle Aged, Co-segregation, Human genetics, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, symbols, Female, medicine.symptom, Age of onset, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80e4a519e2754420fd3c2876a322ace
https://pubmed.ncbi.nlm.nih.gov/30894143

المؤلفون: Vesa M. Olkkonen, Henriikka Kentala, Annukka M. Kivelä, Annika Koponen, You Zhou, Robert Andrews, ChunHei Li

المساهمون: Medicum, Department of Anatomy, University of Helsinki

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 32(3)

مصطلحات موضوعية: EXPRESSION, 0301 basic medicine, Receptors, Steroid, STEROL TRANSPORT, RHOA, interactome, Cell morphology, Biochemistry, F-actin, 03 medical and health sciences, Gene Knockout Techniques, 0302 clinical medicine, Cell Movement, Genetics, Cell Adhesion, Humans, Cytoskeleton, Molecular Biology, CELLULAR CHOLESTEROL-METABOLISM, Actin, Cell Proliferation, biology, HEARING-LOSS, RNA sequencing, Cell migration, Actin cytoskeleton, Sterol transport, Molecular biology, Cell biology, Actin Cytoskeleton, 030104 developmental biology, ER, 030220 oncology & carcinogenesis, PLASMA-MEMBRANE, CELLS, OSBPL2, biology.protein, Hepatocytes, LIPID DROPLETS, 1182 Biochemistry, cell and molecular biology, OXYSTEROL-BINDING-PROTEIN, 3111 Biomedicine, CRISPR-Cas9, Lamellipodium, CRISPR-Cas Systems, OSBP-RELATED PROTEIN-2, Biotechnology, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399585475752de9951f0d84a1026ebfb
https://pubmed.ncbi.nlm.nih.gov/29092904

المؤلفون: Pohjalainen, Jesse, Sirainen, Tarmo

المساهمون: Metropolia Ammattikorkeakoulu

مصطلحات موضوعية: ORP2, OSBPL2, apoB-100, apoA-I, ELISA, FPLC, CRISPR-Cas9, fi=Bioanalytiikka|sv=Bioanalytik|en=Bionalytics, Bioanalytiikan tutkinto-ohjelma

Relation: URN:NBN:fi:amk-2017120119183; http://www.theseus.fi/handle/10024/136960; 10024/206

الاتاحة: http://www.theseus.fi/handle/10024/136960