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Auditory Rehabilitation in Rhesus Macaque Monkeys (Macaca mulatta) with Auditory Brainstem Implants
Published 2015-01-01“…This study aimed to establish an animal model of ABI in adult rhesus macaque monkey (Macaca mulatta). Methods: Six adult rhesus macaque monkeys (M. mulatta) were included. …”
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Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkey
Published 2023-02-01“…IntroductionPolycystic kidney disease (PKD) is a common autosomal dominant or recessive genetic disease, often accompanied by polycystic liver disease (PLD). …”
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Characteristics of Spontaneous Square-Wave Jerks in the Healthy Macaque Monkey during Visual Fixation.
Published 2015-01-01“…SWJs are present in most human subjects, but are prominent by their increased frequency and size in certain parkinsonian disorders and in recessive, hereditary spinocerebellar ataxias. SWJs have been also documented in monkeys with tectal and cerebellar etiologies, but no studies to date have investigated the occurrence of SWJs in healthy nonhuman primates. …”
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A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)
Published 2017-05-01“…Abstract Background Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. …”
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The Progress in Treatment of β-Thalassemia and Research on Animal Models of the Disease
Published 2025-02-01“…β-thalassemia is one of the most prevalent single-gene recessive disorders worldwide, characterized by the impaired synthesis of β-globin chains, which leads to ineffective erythropoiesis and results in anemia and iron overload, along with various complications. …”
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5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.
Published 2014-01-01“…We conducted the RP2 onshore tandem GAAA repeat assay in the naturally occurring chimeric New World monkey marmoset (Callitrichidae) and found it to be informative. …”
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A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy
Published 2007-09-01“…<p>Abstract</p> <p>Background</p> <p>Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder with monogenic mutations setting the stage for successful gene therapy treatment. …”
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Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia
Published 2021-10-01“…Desbuquois dysplasia is a rare skeletal dysplasia with an autosomal recessive inheritance, resembling to the group of multiple joint dislocations. …”
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Preclinical studies in support of phase I/II clinical trials to treat GUCY2D-associated Leber congenital amaurosis
Published 2023-03-01“…Dose-ranging studies were conducted in cynomolgus monkeys to establish the minimum dose required for efficient photoreceptor transduction. …”
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AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice
Published 2015-01-01“…Recessive mutations in RLBP1 cause a form of retinitis pigmentosa in which the retina, before its degeneration leads to blindness, abnormally slowly recovers sensitivity after exposure to light. …”
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Environmental and economical ethics collide
Published 2020-05-01“…The world has entered into a recession, with estimates of a US $2 trillion loss. …”
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