المؤلفون: Harkness, J. Robert, Thomas, Huw B., Urquhart, Jill E., Jamieson, Peter, O'Keefe, Raymond T., Kingston, Helen M., Deshpande, Charulata, Newman, William G.

المصدر: Harkness , J R , Thomas , H B , Urquhart , J E , Jamieson , P , O'Keefe , R T , Kingston , H M , Deshpande , C & Newman , W G 2024 , ' Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype ' , European journal of medical genetics , vol. 67 , 104907 . https://doi.org/10.1016/j.ejmg.2023.104907Test

مصطلحات موضوعية: ATP7A, Deep intronic variant, Genome, Menkes disease, Non-coding, Occipital horn syndrome, Rare disease, Splicing

العلاقة: https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104907Test
https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest
http://www.scopus.com/inward/record.url?scp=85181260168&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/d00564bd-ebb5-37e1-8e39-4a848c83160cTest/

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

المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: ATP7A, Menkes disease, occipital horn syndrome, genotype-phenotype, splice site mutations, splice-variant, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2021.532291/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/7ea7a548def74c72bf28dd9cc4efaef1Test

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

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Menkes disease, Occipital horn syndrome, Genotype-phenotype, Splice site mutations

وصف الملف: application/pdf

العلاقة: Frontiers in Molecular Neuroscience; Møller LB, Mogensen M, Weaver DD, Pedersen PA. Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15. Front Mol Neurosci. 2021;14:532291. Published 2021 Apr 21. doi:10.3389/fnmol.2021.532291; https://hdl.handle.net/1805/30523Test

الإتاحة: https://doi.org/10.3389/fnmol.2021.532291Test
https://hdl.handle.net/1805/30523Test

المؤلفون: De Feyter, Silke, Beyens, Aude, Callewaert, Bert

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, ATP7A, ATPase, copper metabolism, genotype-phenotype, Menkes disease, neurodegenerative disorder, occipital horn syndrome, X-linked, SPLICE-SITE MUTATIONS, CYTOCHROME-C-OXIDASE, MENKES-DISEASE, GENE, TRAFFICKING, ACTIVATION, ATPASES, VARIANT

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5DTest; http://hdl.handle.net/1854/LU-01GTH7SC75F68S8Z8H42D2SA5DTest; http://doi.org/10.1002/jimd.12590Test; https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5D/file/01GTH7Y0RPJFVXYCDZCH3X0GH5Test

الإتاحة: https://doi.org/10.1002/jimd.12590Test
https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5DTest
http://hdl.handle.net/1854/LU-01GTH7SC75F68S8Z8H42D2SA5DTest
https://biblio.ugent.be/publication/01GTH7SC75F68S8Z8H42D2SA5D/file/01GTH7Y0RPJFVXYCDZCH3X0GH5Test

المؤلفون: Fradin, Melanie, Lavillaureix, Alinoe, Jaillard, Sylvie, Quelin, Chloe, Sauleau, Paul, Minot, Marie-Christine, Menard, Dominique, Edan, Gilles, Ceballos, Irene, Tréguier, Catherine, Proisy, Maia, Magdelaine, Corinne, Lia, A.-S., Odent, Sylvie, Pasquier, Laurent

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre d'Investigation Clinique Rennes (CIC), Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Limoges

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-03006935Test ; European Journal of Medical Genetics, 2020, 63 (12), pp.104087. ⟨10.1016/j.ejmg.2020.104087⟩.

مصطلحات موضوعية: ATP7A, Dysautonomia, Menkes disease, Occipital horn syndrome, X-linked distal spinal muscular atrophy-3, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33137485; hal-03006935; https://hal.science/hal-03006935Test; https://hal.science/hal-03006935/documentTest; https://hal.science/hal-03006935/file/S1769721220307977.pdfTest; PII: S1769-7212(20)30797-7; PUBMED: 33137485

الإتاحة: https://doi.org/10.1016/j.ejmg.2020.104087Test
https://hal.science/hal-03006935Test
https://hal.science/hal-03006935/documentTest
https://hal.science/hal-03006935/file/S1769721220307977.pdfTest

المؤلفون: Beyens, Aude, Van Meensel, Kyaran, Pottie, Lore, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Hoebeke, Piet, Plasschaert, Frank, Loeys, Bart, De Schepper, Sofie, Symoens, Sofie, Callewaert, Bert

المصدر: GENES ; ISSN: 2073-4425

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, occipital horn syndrome, Ehlers-Danlos syndrome type IX, Menkes syndrome, ATP7A, review, copper transport, elastic fiber, collagen, EHLERS-DANLOS-SYNDROME, SPLICE-SITE MUTATIONS, MENKES-DISEASE, ATP7A GENE, CANDIDATE GENE, SKIN FIBROBLASTS, NATURAL-HISTORY, PATIENT, PROTEIN

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8626189Test; http://hdl.handle.net/1854/LU-8626189Test; http://dx.doi.org/10.3390/genes10070528Test; https://biblio.ugent.be/publication/8626189/file/8647622Test

الإتاحة: https://doi.org/10.3390/genes10070528Test
https://biblio.ugent.be/publication/8626189Test
http://hdl.handle.net/1854/LU-8626189Test
https://biblio.ugent.be/publication/8626189/file/8647622Test

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: Alessandra Ferlini, Francesca Gualandi, Mert Karakaya, Rocco Liguori, Stefano Squarzoni, Fernanda Fortunato, V. Simioni, Marcella Neri, Elisabetta Sette, Domenico De Grandis, Alex Incensi, Vincent Timmerman, Markus Storbeck, Rita Selvatici, Valeria Tugnoli, C. Scotton, Brunhilde Wirth, Stefania Bigoni, Vincenzo Donadio

المساهمون: Gualandi F., Sette E., Fortunato F., Bigoni S., De Grandis D., Scotton C., Selvatici R., Neri M., Incensi A., Liguori R., Storbeck M., Karakaya M., Simioni V., Squarzoni S., Timmerman V., Wirth B., Donadio V., Tugnoli V., Ferlini A.

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Retrograde ejaculation, Pathology, medicine.medical_specialty, Peripheral neuropathy, ATP7A, Occipital horn syndrome, Socio-culturale, medicine.disease_cause, Cutis Laxa, Muscular Atrophy, Spinal, Autonomic neuropathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, ATP7A mutation, Motor Neuron Disease, Menkes Kinky Hair Syndrome, Genetic Association Studies, Genetics (clinical), Aged, Adenosine Triphosphatases, Mutation, business.industry, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Menkes disease, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a3fd435375c5c8fdc015839378ff6bTest
https://doi.org/10.1016/j.nmd.2019.08.008Test

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: Andrea Cvitković Roić, Goran Roić, Alemka Jaklin Kekez, Iva Palčić

المصدر: The Central European Journal of Paediatrics. 15:46-49

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Connective Tissue Disorder, business.industry, Urinary system, Occipital horn syndrome, medicine.disease, Hypotonia, RECURRENT UTI, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Gene duplication, medicine, Menkes disease, medicine.symptom, Low serum copper, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a1c7867a9458e9240096d2ca46543036Test
https://doi.org/10.5457/p2005-114.229Test