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night blindness/potasio

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BACKGROUND The most common cause of blindness in developing countries is vitamin A deficiency. The World Health Organization (WHO) estimates 13.8 million children have some degree of visual loss related to vitamin A deficiency. The causes of night blindness in children are multifactorial and

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

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Voltage-gated Ca²⁺ channels allow for Ca²⁺-dependent intracellular signaling by directly mediating Ca²⁺ ion influx, by physical coupling to intracellular Ca²⁺ release channels or functional coupling to other ion channels such as Ca²⁺ activated potassium channels. L-type Ca²⁺ channels that comprise

Disorders of membrane channels or channelopathies.

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OBJECTIVE To review the structure and function of membrane ion channels with special emphasis on inherited nervous system channel disorders or channelopathies. RESULTS Channels are pores in the cell membrane. Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell.

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.

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OBJECTIVE To map the disease locus of a two-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy (arCRD). All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color distinction.
BACKGROUND Amongst New Zealand soldiers in Gallipoli in 1915 there were reports of poor food quality and cases of scurvy. But no modern analysis of the military food rations has ever been conducted to better understand potential nutritional problems in this group. METHODS We analysed the foods in

Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.

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Modulation of ion channels by extracellular proteins plays critical roles in shaping synaptic plasticity. Retinoschisin (RS1) is an extracellular adhesive protein secreted from photoreceptors and bipolar cells, and it plays an important role during retinal development, as well as in maintaining the

Voltage-gated ion channels and hereditary disease.

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By the introduction of technological advancement in methods of structural analysis, electronics, and recombinant DNA techniques, research in physiology has become molecular. Additionally, focus of interest has been moving away from classical physiology to become increasingly centered on mechanisms

Ion channels-related diseases.

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There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome,

Clinical features of the congenital vitreoretinopathies.

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The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases
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