ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse Model [PDF]
, 2011 Anthony Donsante +9 more
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At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A
, 2021 Eva‐Maria Uhlemann +3 more
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Doença de Wilson e o metabolismo do cobre [PDF]
, 2012 Dissertação de mest., Ciências Farmacêuticas, Faculdade de Ciências e Tecnologia, Univ. do Algarve, 2012A doença de Wilson é uma desordem genética rara que afeta o metabolismo do cobre.
Pires, Ana Margarida Mateus
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The Binding Mode of ATP Revealed by the Solution Structure of the N-domain of Human ATP7A [PDF]
, 2009 Lucia Banci +5 more
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ATP7A is a novel target of retinoic acid receptor β2 in neuroblastoma cells [PDF]
, 2009 A Bohlken +11 more
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Menkes disease – a rare disorder requiring interdisciplinary management
Pediatria PolskaMenkes disease is a rare, X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, resulting in defective copper transport. The clinical picture is dominated by early-onset neurological decline, connective tissue abnormalities,
Magdalena Jaworek +7 more
doaj +1 more source
Novel ATP7A gene mutation in a patient with Menkes disease
The Application of Clinical Genetics, 2018 Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3 Harry Mauricio Pachajoa1–4 1Health Sciences Faculty, Universidad Icesi, Cali, Colombia; 2Dermatology, Fundación Valle Del Lili, Cali ...
Caicedo-Herrera G +5 more
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Melasma pathogenesis: a review of the latest research, pathological findings, and investigational therapies [PDF]
, 2019 Melasma is an acquired hyperpigmentation disorder most commonly affecting females with darker skin types. It is triggered by several factors including sun exposure, genetic influences, and female sex hormones.
Maymone, Mayra BC de Castro +2 more
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Homocysteine induces cardiac hypertrophy by up-regulating ATP7a expression.
International journal of clinical and experimental pathology, 2016 The aim of the study is to investigate the molecular mechanism by which homocysteine (Hcy) induces cardiac hypertrophy.Primary cardiomyocytes were obtained from baby Sprague-Dawley rats within 3 days after birth. Flow cytometry was used to measure cell sizes.
Zhanwei, Cao +5 more
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Marcadores en cáncer: estrategias de análisis de expresión múltiple [PDF]
, 2016 La RT-qPCR es, actualmente, la técnica de referencia para el análisis de la expresión génica, debido a sus múltiples ventajas como la sensibilidad, la rapidez o el amplio rango de cuantificación.
Cotarelo Fernández, Ana
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