المؤلفون: Hannah Faith Greene, Byung-Eun Kim, Michael J. Petris, Mohammad Zulkifli, Liam M. Guthrie, James C. Sacchettini, Elyssa Nunez, Thomas Snavely, Arjun Acharya, Andres Silva, Vishal M. Gohil, Brogan Lynch, Vinit Shanbhag, Sai Yuan, Franklin R. Lopez, Shivatheja Soma, Courtney De Ville

المصدر: Science

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, ATP7A, Mitochondrion, Article, Cell Line, Electron Transport Complex IV, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Animals, Medicine, Cytochrome c oxidase, Menkes Kinky Hair Syndrome, Copper Transporter 1, Mice, Knockout, Multidisciplinary, biology, business.industry, Brain, Biological Transport, Neurodegenerative Diseases, Transporter, medicine.disease, Mitochondria, Rats, Multiple pathologies, Disease Models, Animal, Hydrazines, 030104 developmental biology, Endocrinology, chemistry, biology.protein, Elesclomol, Menkes disease, business, Copper deficiency, Copper, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8e07eb8a2db245d605c596bc6aa201Test
https://doi.org/10.1126/science.aaz8899Test

المؤلفون: Mukesh Kumar, Vinod Scaria, Kavita Pandhare, Kalarickal V. Dileep, Mukta Poojary, B K Binukumar, Aditi Mhaske, Kam Y. J. Zhang

المصدر: Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 2347-2356 (2020)
Computational and Structural Biotechnology Journal

مصطلحات موضوعية: medicine.medical_specialty, lcsh:Biotechnology, Population, Biophysics, Occipital horn syndrome, Disease, Biology, computer.software_genre, Biochemistry, Database, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, lcsh:TP248.13-248.65, ATP7A, Genetics, medicine, education, Gene, ComputingMethodologies_COMPUTERGRAPHICS, 030304 developmental biology, 0303 health sciences, education.field_of_study, Variants, Menkes disease, medicine.disease, Computer Science Applications, ATP7A Gene, Genetic epidemiology, ACMG classification, 030220 oncology & carcinogenesis, Medical genetics, computer, Research Article, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef5df33c412ea7e357918df38ea783fTest
https://doi.org/10.1016/j.csbj.2020.08.021Test

المؤلفون: Mohnish Suri, Fowzan S. Alkuraya, Ghada Gosadi, Jane Ravenscroft, Hessa S. Alsaif, David Devadason, Mohammad Al-Owain, Yousef Binamer, Martin E. Barrios-Llerena

المصدر: Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Protein subunit, Adaptor Protein Complex 1, ATP7A, 03 medical and health sciences, 0302 clinical medicine, Hepatolenticular Degeneration, Report, Genetics, medicine, Humans, Adaptor Protein Complex beta Subunits, Cation Transport Proteins, Genetics (clinical), biology, MEDNIK syndrome, Ichthyosis, Homozygote, Copper toxicity, Genetic Diseases, Inborn, Infant, Syndrome, medicine.disease, Phenotype, Protein Subunits, Protein Transport, 030104 developmental biology, Copper-Transporting ATPases, Child, Preschool, Mutation, biology.protein, Female, Menkes disease, Ceruloplasmin, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2659ebc4414c004948bfd14f749ef5Test
https://doi.org/10.1016/j.ajhg.2019.09.020Test

المؤلفون: Viktor J Romero-Diaz, Margarita L Martinez-Fierro, Edith Cardenas-Vargas, Griselda A Cabral-Pacheco, Iram P. Rodriguez-Sanchez, Marisol Ibarra-Ramírez, Idalia Garza-Veloz, Joke Beuten, Jesus Acuña-Quiñones, Vania Z. Zuñiga-Ramirez, Samantha E. Sanchez-Guerrero, Laura Elia Martínez-de-Villarreal, Ivan Delgado-Enciso, Laura Villarreal-Martínez

المصدر: Genes, Vol 12, Iss 744, p 744 (2021)
Genes
Volume 12
Issue 5

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Proteomics, Adolescent, Proteome, ATP7A, Down-Regulation, rare disease, Context (language use), QH426-470, Article, 03 medical and health sciences, Immune System Phenomena, Young Adult, 0302 clinical medicine, Cell Movement, medicine, Genetics, Humans, Menkes Kinky Hair Syndrome, Genetics (clinical), Exome sequencing, biology, Infant, Menkes disease, medicine.disease, hypopigmentary disorder, Blood proteins, Molecular biology, Up-Regulation, ATP7A Gene, silvery hair syndrome, 030104 developmental biology, Copper-Transporting ATPases, Mutation, biology.protein, Female, Ceruloplasmin, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669c93b59010428d21281009bf99c3fbTest
https://www.mdpi.com/2073-4425/12/5/744Test

المؤلفون: Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen

المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)
Møller, L B, Mogensen, M, Weaver, D D & Pedersen, P A 2021, ' Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A . No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 ', Frontiers in Molecular Neuroscience, vol. 14, 532291 . https://doi.org/10.3389/fnmol.2021.532291Test

مصطلحات موضوعية: 0301 basic medicine, splice site mutations, Occipital horn syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, 030105 genetics & heredity, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, medicine, ATP7A, splice, occipital horn syndrome, Molecular Biology, Genetics, Splice site mutation, splice-variant, Alternative splicing, Menkes disease, medicine.disease, Phenotype, genotype-phenotype, 030104 developmental biology, RNA splicing, RC321-571

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce3e5141d08f055c287dc57de9614beTest
https://www.frontiersin.org/articles/10.3389/fnmol.2021.532291/fullTest

المؤلفون: Nina Horn, Pernilla Wittung-Stafshede

المصدر: Biomedicines, Vol 9, Iss 391, p 391 (2021)
Biomedicines

مصطلحات موضوعية: Innate immune system, copper trafficking, ATP7A, Medicine (miscellaneous), Lysyl oxidase, Review, Menkes disease, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Cell biology, copper enzyme, lcsh:Biology (General), symptomatology, medicine, Copper deficiency, Receptor, lcsh:QH301-705.5, Loss function, Secretory pathway

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fc7a07108a068cb68b513dc12e8326bTest
https://www.mdpi.com/2227-9059/9/4/391Test

المؤلفون: Briggs Carhart, Matthew Chaung, Taylor Wingfield, Sam Macklin-Isquierdo, Gary J. Bassell, Alexander Starr, Ileana Lorenzini, Zachary T. McEachin, Daniela C. Zarnescu, Paul R. August, Robert Bowser, Alexandre Betourne, Nadine Bakkar, Robert Kraft, Nicholas M. Boulis, Nathan Zahler, Justin K. Ichida, Samuel V. Alworth, Benjamin E. Rabichow, Wen-Hsuan Chang, Rita Sattler

المصدر: Neurobiology of Disease, Vol 149, Iss, Pp 105228-(2021)

مصطلحات موضوعية: 0301 basic medicine, ATP7A, Induced Pluripotent Stem Cells, Occipital horn syndrome, Biology, lcsh:RC321-571, Animals, Genetically Modified, 03 medical and health sciences, Mice, 0302 clinical medicine, Copper toxicity, C9orf72, medicine, Animals, Homeostasis, Humans, Amyotrophic lateral sclerosis, Motor Neuron Disease, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Cells, Cultured, Dose-Response Relationship, Drug, Neurodegeneration, Genetic Variation, Motor neuron, Copper transport, medicine.disease, iPSC derived motor neurons, Cell biology, Vesicular transport protein, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Neurology, Animals, Newborn, Copper-Transporting ATPases, Menkes disease, Drosophila, Intracellular transport, 030217 neurology & neurosurgery, Copper, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b093cb0d40dc3783f16c5e990d7e3bTest
http://www.sciencedirect.com/science/article/pii/S0969996120305039Test

المؤلفون: Louis C. Penning, Ralf Weiskirchen

المصدر: Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 65

مصطلحات موضوعية: Proteolysis, Inflammation, 010501 environmental sciences, 01 natural sciences, Biochemistry, Inorganic Chemistry, 03 medical and health sciences, 0302 clinical medicine, Ubiquitin, Neoplasms, medicine, Homeostasis, Humans, 0105 earth and related environmental sciences, Adaptor Proteins, Signal Transducing, medicine.diagnostic_test, biology, Chemistry, medicine.disease, Cell biology, ATP7A Gene, Mechanism of action, Proteasome, biology.protein, Molecular Medicine, Menkes disease, medicine.symptom, Copper deficiency, 030217 neurology & neurosurgery, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98631a9abc251ae80fbb407ae95565cTest
https://pubmed.ncbi.nlm.nih.gov/33482423Test

المؤلفون: Wu, Xiaoyan, den Boer, Elise R, Vos-Loohuis, Manon, Monroe, Glen R, Nijman, Isaäc J, van Steenbeek, F.G., Leegwater, Peter A J, Fieten, Hille, Interne geneeskunde GD, dCSCA AVR, dCSCA RMSC-1, CS_Genetics

المساهمون: Interne geneeskunde GD, dCSCA AVR, dCSCA RMSC-1, CS_Genetics

المصدر: Life (Basel, Switzerland), 10(11). Multidisciplinary Digital Publishing Institute
Life
Volume 10
Issue 11
Life, Vol 10, Iss 266, p 266 (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cirrhosis, 040301 veterinary sciences, ATP7A, Biology, Article, General Biochemistry, Genetics and Molecular Biology, RETN, 0403 veterinary science, Labrador retriever, 03 medical and health sciences, Internal medicine, ATP7B, medicine, Allele, lcsh:Science, Ecology, Evolution, Behavior and Systematics, Wilson disease, Fatty liver, Genetic disorder, Paleontology, 04 agricultural and veterinary sciences, Menkes disease, medicine.disease, 030104 developmental biology, Endocrinology, Space and Planetary Science, copper, dog, Labrador Retriever, lcsh:Q, Resistin, copper toxicosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb405b6926e1a49fa4542a886f29979Test
https://hdl.handle.net/1874/409747Test

المؤلفون: Justyna Antoniuk, Zenon Rajfur, Wojciech Krzeptowski, Aleksandra Bednarz, Robert Staroń, Rafał R. Starzyński, Zbigniew Baster, Aneta Jończy, Olga Pierzchała, Mateusz Ogórek, Małgorzata Lenartowicz, Paweł Lipiński, Paweł Grzmil

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863:1410-1421

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, mottled mice, Ferroportin, Mutant, ATP7A, Biology, medicine.disease_cause, 03 medical and health sciences, Internal medicine, Gene expression, medicine, Molecular Biology, Mutation, 030109 nutrition & dietetics, copper supplementation, medicine.disease, ATP7A Gene, 030104 developmental biology, Endocrinology, menkes disease, Immunology, biology.protein, Molecular Medicine, Menkes disease, ferroportin, iron metabolism, Copper deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815fab39ca3e2e51e14feca38b289363Test
https://doi.org/10.1016/j.bbadis.2017.02.020Test