يعرض 1 - 10 نتائج من 124 نتيجة بحث عن '"Menkes disease"', وقت الاستعلام: 0.71s تنقيح النتائج
  1. 1
    ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

    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


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  2. 2
    Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

    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


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  3. 3
    Report of a novel ATP7A mutation causing distal motor neuropathy

    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


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  4. 4
    Chelating principles in Menkes and Wilson diseases

    المؤلفون: Jan Aaseth, Nina Horn, Valeria Marina Nurchi, Lisbeth Birk Møller

    المصدر: Journal of Inorganic Biochemistry. 190:98-112

    مصطلحات موضوعية: medicine.medical_specialty, 010405 organic chemistry, Chemistry, Copper toxicity, Copper export, chemistry.chemical_element, Disease, 010402 general chemistry, medicine.disease, 01 natural sciences, Biochemistry, Copper, 0104 chemical sciences, Inorganic Chemistry, Lipoic acid, chemistry.chemical_compound, Endocrinology, Internal medicine, medicine, Menkes disease, Chelation, Copper deficiency

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b5000125279fc3f599648161448c424bTest
    https://doi.org/10.1016/j.jinorgbio.2018.10.009Test


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  5. 5
    A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease

    المؤلفون: Bruna Cristine Chwal, Ana Carolina de Freitas Lopes, Jonas Alex Morales Saute, Silvana Perini, Maria Angelica Pires Ferreira, Filippo Vairo

    المصدر: Molecular Genetics and Metabolism. 126:6-13

    مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, MEDLINE, Prenatal diagnosis, Disease, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Catecholamines, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Menkes Kinky Hair Syndrome, Intensive care medicine, Molecular Biology, Disease burden, Clinical Trials as Topic, business.industry, Guideline, medicine.disease, Early Diagnosis, Mutation, Practice Guidelines as Topic, Anxiety, Female, Menkes disease, medicine.symptom, business, Copper, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10af887e4cf24b76a1a02a888f578376Test
    https://doi.org/10.1016/j.ymgme.2018.12.005Test


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  6. 6
    Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model

    المؤلفون: Stephen G. Kaler, Patricia M. Zerfas, Lauren R. Brinster, Ling Yi, Jose A. Centeno, Martina Ralle, Diego Martinelli, Marie Reine Haddad, Eun-Young Choi, Patricia Sullivan, David S. Goldstein

    المصدر: Molecular Therapy. Methods & Clinical Development
    Molecular Therapy: Methods & Clinical Development, Vol 10, Iss, Pp 165-178 (2018)

    مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Genetic enhancement, ATP7A, Mutant, adeno-associated virus, Pharmacology, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Neurochemical, Cerebrospinal fluid, Genetics, medicine, dopamine-beta-hydroxylase, lcsh:QH573-671, Molecular Biology, Adeno-associated virus, lcsh:Cytology, business.industry, Menkes disease, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, copper, Molecular Medicine, Animal studies, choroid plexus epithelia, business, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d58010869ef6f76404bb3686b7f5be1Test
    https://doi.org/10.1016/j.omtm.2018.07.002Test


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  7. 7
    Copper therapy reduces intravascular hemolysis and derepresses ferroportin in mice with mosaic mutation ( Atp7a mo-ms ): An implication for copper-mediated regulation of the Slc40a1 gene expression

    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


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  8. 8
    Long surviving classical Menkes disease treated with weekly intravenous copper therapy

    المؤلفون: Ryoko Nakamura, Toru Imagi, Ryutaro Kira, Pin Fee Chong, Kenichi Maeda, Reina Ogata, Nobuko Kawamura

    المصدر: Journal of Trace Elements in Medicine and Biology. 54:172-174

    مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Copper metabolism, Central nervous system, ATP7A, 010501 environmental sciences, 01 natural sciences, Biochemistry, Gastroenterology, Drug Administration Schedule, Nephrotoxicity, Inorganic Chemistry, Social life, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Menkes Kinky Hair Syndrome, 0105 earth and related environmental sciences, business.industry, medicine.disease, Molecular analysis, medicine.anatomical_structure, Deletion mutation, Molecular Medicine, Administration, Intravenous, Menkes disease, business, Copper, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b864f984506f8dfb8d512050125149afTest
    https://doi.org/10.1016/j.jtemb.2019.04.020Test


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  9. 9
    A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

    المؤلفون: Uros Hladnik, Federico Verde, Nicola Ticozzi, Chiara Castronovo, Paola Cattelan, Vincenzo Silani, Luca Campana, Paolo Banfi, Maria Teresa Bonati, Luca Maderna, Sergio Papa, Claudia Colombrita

    المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 14-17 (2017)
    Molecular Genetics and Metabolism Reports

    مصطلحات موضوعية: 0301 basic medicine, Proband, Short Communication, media_common.quotation_subject, ATP7A, Nonsense, Occipital horn syndrome, Biology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Protein activity, lcsh:QH301-705.5, Molecular Biology, media_common, Continuum spectrum disorders, lcsh:R5-920, Weak grip, ATP7A late truncation, Limited elbow and shoulder movement, Copper transport, medicine.disease, Phenotype, Transmembrane domain, 030104 developmental biology, lcsh:Biology (General), Menkes disease, lcsh:Medicine (General), 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c598daebd9325ca49729ac9c08b81e32Test
    https://doi.org/10.1016/j.ymgmr.2017.07.007Test


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  10. 10
    In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease

    المؤلفون: Richard Burke, Jianbin Wang, Stephen W. Mercer

    المصدر: Journal of Biological Chemistry. 292:4113-4122

    مصطلحات موضوعية: 0301 basic medicine, Genetics, Transgene, ATP7A, Wild type, Molecular Bases of Disease, Cell Biology, Biology, medicine.disease, Biochemistry, 03 medical and health sciences, 030104 developmental biology, medicine, Missense mutation, Menkes disease, Allele, Copper deficiency, Molecular Biology, Loss function

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e0912c89386b1d5c18342b4cd76c47Test
    https://doi.org/10.1074/jbc.m116.756163Test


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