المؤلفون: Chang Su, Jing-cheng Yang, Zheng Rong, Fei Li, Lan-xin Luo, Guan Liu, Cai-yan Cheng, Ming-gao Zhao, Le Yang

المصدر: Heliyon, Vol 9, Iss 9, Pp e19233- (2023)

مصطلحات موضوعية: CCDC115, Hepatocellular carcinoma, Prognosis, PI3K-Akt pathway, Drug resistance, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023064411Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/6d931053f0c84a8580869a5ca235ac8eTest

المؤلفون: Miles, Anna Louise

المساهمون: Nathan, James

مصطلحات موضوعية: 571.6, CCDC115, HIF, Iron, PHD, TMEM199, Vacuolar ATPase, Vma12p, Vma22p, Ferritinophagy, Prolyl hydroxylation, Transferrin, Transferrin receptor, Lysosomes, Acidification, Hypoxia Inducible Factors, V-ATPase, Proteasome, Hypoxic response pathway, Endo-lysosomal degradation, IRP2, IRE

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.763610Test

المؤلفون: Larsen, Lars E., van den Boogert, Marjolein A. W., Rios-Ocampo, Wilson A., Jansen, Jos C., Conlon, Donna, Chong, Patrick L. E., Levels, J. Han M., Eilers, Roos E., V. Sachdev, Vinay, Zelcer, Noam, Raabe, Tobias, He, Miao, Hand, Nicholas J., Drenth, Joost P. H., Rader, David J., Stroes, Eric S. G., Lefeber, Dirk J., Jonker, Johan W., Holleborn, Adriaan G.

المصدر: Larsen , L E , van den Boogert , M A W , Rios-Ocampo , W A , Jansen , J C , Conlon , D , Chong , P L E , Levels , J H M , Eilers , R E , V. Sachdev , V , Zelcer , N , Raabe , T , He , M , Hand , N J , Drenth , J P H , Rader , D J , Stroes , E S G , Lefeber , D J , Jonker , J W & Holleborn , A G 2022 , ....

مصطلحات موضوعية: V-ATPase assembly defects, Lipophagy, Lipid droplet, Fatty liver disease, NAFLD, Hyperlipidemia, Mutations in TMEM199 and in CCDC115

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/aad2c154-85c7-4fe7-b823-445db5990d09Test

الإتاحة: https://doi.org/10.1016/j.jcmgh.2021.09.013Test
https://hdl.handle.net/11370/aad2c154-85c7-4fe7-b823-445db5990d09Test
https://research.rug.nl/en/publications/aad2c154-85c7-4fe7-b823-445db5990d09Test
https://pure.rug.nl/ws/files/206104692/1_s2.0_S2352345X21002034.pdfTest

المؤلفون: Sánchez-Monteagudo, Ana, Álvarez-Sauco, María, Sastre, Isabel, Martínez-Torres, Irene, Lupo,Vincenzo, Berenguer, Marina, Espinós-Armero, Carmen Ángeles

المساهمون: Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural, Generalitat Valenciana, Fundació Per Amor a l Art, Instituto de Salud Carlos III

مصطلحات موضوعية: ATP7B gene, CCDC115 gene, Genetic diagnosis, Targeted next-generation sequencing, Whole exome sequencing, Wilson's disease, Wilson-like phenotype, BIOLOGIA CELULAR

العلاقة: Clinical Genetics; info:eu-repo/grantAgreement/GVA//PROMETEO%2F2018%2F135 /; info:eu-repo/grantAgreement/ISCIII//PI18%2F00147/; https://doi.org/10.1111/cge.13719Test; http://hdl.handle.net/10251/201211Test; urn:eissn:0009-9163

الإتاحة: https://doi.org/10.1111/cge.13719Test
http://hdl.handle.net/10251/201211Test

المؤلفون: Jean M. Winter, Natasha L. Curry, Derek M. Gildea, Kendra A. Williams, Minnkyong Lee, Ying Hu, Nigel P. S. Crawford

المصدر: BMC Genomics, Vol 19, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Prostate cancer, Germline variation, Quantitative trait loci, CCDC115, DNAJC10, RNF149, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12864-018-4827-2Test; https://doaj.org/toc/1471-2164Test

الوصول الحر: https://doaj.org/article/cc2a9841f5f646f29d5b05b7ef2950d6Test

المؤلفون: Girard, Muriel, Poujois, Aurélia, Fabre, Monique, Lacaille, Florence, Debray, Dominique, Rio, Marlène, Fenaille, François, Cholet, Sophie, Ruel, Coralie, Caussé, Elizabeth, Selves, Janick, Bridoux-Henno, Laure, Woimant, France, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Séta, Nathalie, Alric, Laurent, de Lonlay, Pascale, Bruneel, Arnaud

المساهمون: Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Hôpital Lariboisière-Fernand-Widal APHP, Department of Pathology, Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-Assistance Publique-Hopitaux de Paris-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris Saclay (COmUE), Médicaments et Technologies pour la Santé (MTS), Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Pharmacologie et Immunoanalyse (SPI), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Laboratoire Innovations en Spectrométrie de Masse pour la santé (LI-MS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Médicaments et Technologies pour la Santé (MTS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-MetaboHUB-IDF, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-MetaboHUB-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-MetaboHUB-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), MetaboHUB-IDF, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-MetaboHUB-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Paris-Sud - Paris 11 (UP11), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, AP-HP - Hôpital Bichat - Claude Bernard Paris, ERA-Net for Research on Rare Diseases ANR-15RAR3-0004-06, European Project: 643578,H2020,H2020-HCO-2014,E-Rare-3(2014)

المصدر: ISSN: 1096-7192.

مصطلحات موضوعية: CCDC115, CDG, Glycosylation, Liver steatosis, Copper, Liver fibrosis, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29759592; info:eu-repo/grantAgreement//643578/EU/ERA-NET rare disease research implementing IRDiRC objectives/E-Rare-3; hal-02623414; https://hal.inrae.fr/hal-02623414Test; https://hal.inrae.fr/hal-02623414/documentTest; https://hal.inrae.fr/hal-02623414/file/CCD115-CDG.pdfTest; PRODINRA: 450000; PUBMED: 29759592; WOS: 000440394500007

الإتاحة: https://doi.org/10.1016/j.ymgme.2018.05.002Test
https://hal.inrae.fr/hal-02623414Test
https://hal.inrae.fr/hal-02623414/documentTest
https://hal.inrae.fr/hal-02623414/file/CCD115-CDG.pdfTest

المؤلفون: David J. Rader, Joost P.H. Drenth, Adriaan G. Holleboom, Jos C. Jansen, J. Han M. Levels, Lars E. Larsen, Marjolein A.W. van den Boogert, Roos E. Eilers, Patrick L.E. Chong, Donna M. Conlon, Vinay Sachdev, Nicholas J. Hand, Wilson A. Rios-Ocampo, Eric S.G. Stroes, Miao He, Noam Zelcer, Tobias Raabe, Dirk Lefeber, Johan W. Jonker

المساهمون: Experimental Vascular Medicine, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Cellular and molecular gastroenterology and hepatology, 13(2), 583-597. Elsevier Inc.
Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, Vol 13, Iss 2, Pp 583-597 (2022)
Cellular and Molecular Gastroenterology and Hepatology, 13, 583-597
Cellular and molecular gastroenterology and hepatology, 13(2), 583-597. HANLEY & BELFUS-ELSEVIER INC
Cellular and Molecular Gastroenterology and Hepatology, 13, 2, pp. 583-597

مصطلحات موضوعية: Very low-density lipoprotein, Apolipoprotein B, HLC, hepatocyte-like cell, V-ATPase assembly defects, Lipophagy, RC799-869, Mice, FPLC, fast protein liquid chromatography, Lipid droplet, Original Research, apoB, apolipoprotein B, TG, triglyceride, biology, Chemistry, Fatty liver, Mutations in TMEM199 and in CCDC115, Gastroenterology, iPSc, induced pluripotent stem cell, Diseases of the digestive system. Gastroenterology, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.anatomical_structure, Hyperlipidemia, Lipotoxicity, qPCR, quantitative polymerase chain reaction, lipids (amino acids, peptides, and proteins), HDL-c, high-density lipoprotein-cholesterol, medicine.medical_specialty, Nerve Tissue Proteins, LDL-c, low-density lipoprotein-cholesterol, VLDL, very low density lipoprotein, Fatty liver disease, Lysosome, Internal medicine, NAFLD, medicine, Animals, Humans, V-ATPase, vacuolar-type H+-adenosine triphosphatase, Hepatology, OA, oleic acid, Membrane Proteins, DMEM, Dulbecco modified Eagle medium, Lipid Droplets, medicine.disease, TC, total cholesterol, Fatty Liver, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Endocrinology, siRNA, small interfering RNA, Mutation, Hepatocytes, biology.protein, BSA, bovine serum albumin, NAFLD, nonalcoholic fatty liver disease, Steatosis, Lysosomes, LAL, lysosomal lipase, MALDI-TOF, matrix-associated laser desorption/ionization time-of-flight, Lipoprotein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd690ee2f3528274a974978110078931Test
https://pure.amc.nl/en/publications/defective-lipid-dropletlysosome-interaction-causes-fatty-liver-disease-as-evidenced-by-human-mutations-in-tmem199-andTest-ccdc115(4a8f6f40-8c9d-48bf-9fc0-f57814f0e83b).html

المؤلفون: A. SANCHEZ-MONTEAGUDO, M. ALVAREZ-SAUCO, I. SASTRE, I. MARTINEZ-TORRES, V. LUPO, M. BERENGUER, C. ESPINOS

المصدر: CLINICAL GENETICS
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)

مصطلحات موضوعية: genetic diagnosis, targeted next-generation sequencing, ATP7B gene, CCDC115 gene, Wilson's disease, Wilson-like phenotype, genetic diagnosis, targeted next-generation sequencing, whole exome sequencing, Wilson's disease, Wilson-like phenotype, ATP7B gene, CCDC115 gene, whole exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a816a7b92c37fa3bc6bdfd133123cc4Test
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3466Test

المؤلفون: Kendra A. Williams, Derek M. Gildea, Nigel P.S. Crawford, Natasha L. Curry, Jean M. Winter, Ying Hu, Minnkyong Lee

المصدر: BMC Genomics, Vol 19, Iss 1, Pp 1-16 (2018)
BMC Genomics

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, RNF149, TRAMP mouse model, Germline, Mice, education.field_of_study, Prostate cancer, LNCaP, Chromosome Mapping, CCDC115, Phenotype, STYXL1, 3. Good health, Tumor Burden, Biotechnology, Tramp, Research Article, Quantitative trait loci, lcsh:QH426-470, lcsh:Biotechnology, Population, Locus (genetics), Mice, Transgenic, Nerve Tissue Proteins, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cell Line, Tumor, lcsh:TP248.13-248.65, Genetics, Animals, Humans, RNA, Messenger, education, Crosses, Genetic, Sequence Analysis, RNA, Gene Expression Profiling, Prostatic Neoplasms, Germline variation, DNAJC10, lcsh:Genetics, 030104 developmental biology, Genetic Loci, Cancer research, Genes, Neoplasm, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa09d4c4b87995fa20d6f04cc751f60Test
http://link.springer.com/article/10.1186/s12864-018-4827-2Test

المؤلفون: Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Hôpital Lariboisière-Fernand-Widal [APHP], Department of Pathology, Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-Assistance Publique-Hopitaux de Paris-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris Saclay (COmUE), Université Paris-Sud - Paris 11 (UP11), Centre Hospitalier Universitaire de Purpan (CHU Purpan), CHU Toulouse [Toulouse], CHU Pontchaillou [Rennes], AP-HP - Hôpital Bichat - Claude Bernard [Paris], ERA-Net for Research on Rare Diseases [ANR-15RAR3-0004-06], European Project: 643578,H2020,H2020-HCO-2014,E-Rare-3(2014), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2018, 124 (3), pp.228-235. ⟨10.1016/j.ymgme.2018.05.002⟩
Molecular Genetics and Metabolism, 2018, 124 (3), pp.228-235. ⟨10.1016/j.ymgme.2018.05.002⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cirrhosis, Glycosylation, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Liver steatosis, Liver fibrosis, Golgi Apparatus, Nerve Tissue Proteins, Disease, Bioinformatics, Biochemistry, Pathogenesis, Young Adult, 03 medical and health sciences, symbols.namesake, Liver disease, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Endocrinology, Genetics, medicine, Humans, Molecular Biology, business.industry, Liver Diseases, Infant, Newborn, CCDC115, Golgi apparatus, Prognosis, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, chemistry, Mutation, symbols, Female, CDG, business, Homeostasis, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc18a329e6e2254ace9e1c40ecf336eTest
https://hal.inrae.fr/hal-02623414Test