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Pseudohypoparathyroidism (PHP) type II and selective hypoaldosteronism in a patient with retinitis pigmentosa.
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A 53-year-old man with retinitis pigmentosa, who had two years' complaints of general malaise and muscle weakness, noticed occasional attacks of the cramps of the lower legs about three months prior to admission. At that time, hypocalcemia (7.6 mg/dl) and hyperphosphatemia (5.2 mg/dl) were pointed
Alterations of sodium and potassium channels of RGCs in RCS rat with the development of retinal degeneration.
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All know that retinitis pigmentosa (RP) is a group of hereditary retinal degenerative diseases characterized by progressive dysfunction of photoreceptors and associated with progressive cells loss; nevertheless, little is known about how rods and cones loss affects the surviving inner retinal
Potassium iodate retinopathy.
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A case of potassium iodate toxicity in a 22-year-old man was reported. After taking a solution of highly concentrated potassium iodate, the patient developed nausea, vomiting, diarrhea and blurred vision. The visual acuity was hand motion in both eyes. The funduscopic examination showed retinal
Disrupted Plasma Membrane Protein Homeostasis in a Xenopus Laevis Model of Retinitis Pigmentosa.
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Rhodopsin mislocalization is frequently observed in retinitis pigmentosa (RP) patients. For example, class I mutant rhodopsin is deficient in the VxPx trafficking signal, mislocalizes to the plasma membrane (PM) of rod photoreceptor inner segments (ISs), and causes autosomal dominant RP.
The changes of potassium currents in RCS rat Müller cell during retinal degeneration.
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Müller cells are the principal glial cells expressing membrane-bound potassium channel and predominantly mediating the homeostatic regulation of extracellular K+ produced by neuronal activity in retina. It's well known that Müller cells can be activated in many pathological conditions, but little is
Abnormal levels of aqueous humor trace elements in patients with cytomegalovirus retinitis.
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Relationship between rat retinal degeneration and potassium channel KCNQ5 expression.
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KCNQ5/Kv7.5 is a low-threshold non-inactivating voltage-gated potassium channel preferentially targeted to excitatory endings in brain neurons. The M-type current is mediated by KCNQ5 channel subunits in monkey retinal pigment epithelium cells and in brain neurons. This study was undertaken to
Autosomal dominant retinitis pigmentosa rhodopsin mutant Q344X drives specific alterations in chromatin complex gene transcription.
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Epigenetic and transcriptional mechanisms have been shown to contribute to long-lasting functional changes in adult neurons. The purpose of this study was to identify any such modifications in diseased retinal tissues from a mouse model of rhodopsin mutation-associated autosomal dominant retinitis
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
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Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of disorders showing high genetic and allelic heterogeneity. The determination of a full catalog of genes that can, when mutated, cause human retinal disease is a powerful
Improved retinal function in RCS rats after suppressing the over-activation of mGluR5.
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Müller cells maintain retinal synaptic homeostasis by taking up glutamate from the synaptic cleft and transporting glutamine back to the neurons. To study the interaction between Müller cells and photoreceptors, we injected either DL-α-aminoadipate or L-methionine sulfoximine-both inhibitors of
Changes in aquaporin-4 and Kir4.1 expression in rats with inherited retinal dystrophy.
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Muller glial cells (MGC) are essential for normal functioning of retina. They are especially involved in potassium (K+) and water homeostasis, via inwardly rectifying K+ (Kir 4.1) and aquaporin-4 (AQP4) channels respectively. Because MGC appear morphologically and functionally altered in most
Membrane voltage and whole-cell currents in cultured pericytes of control rats and rats with retinal dystrophy.
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OBJECTIVE
Retinal vascular changes are associated with retinitis pigmentosa in man and the retinal dystrophy of the Royal College of Surgeons (RCS) rat. Recently we demonstrated that retinal capillary pericytes possess electrical membrane characteristics typical for smooth muscle cells and may thus
Electrophysiologic Characterization of Developing Human Embryonic Stem Cell-Derived Photoreceptor Precursors
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Purpose: Photoreceptor precursor cells (PRPs) differentiated from human embryonic stem cells can serve as a source for cell replacement therapy aimed at vision restoration in patients suffering from degenerative diseases of the outer
Electrophysiological responses related to the pigment epithelium and its interaction with the receptor layer.
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The standing potential (SP) of the eye is generated mainly at the apical surface of the pigment epithelium, where tight junctions between adjacent cells create a high resistance membrane. It can be recorded indirectly by means of the electrooculogram (EOG) or directly by recording between electrodes
Fanconi's syndrome in HIV+ adults: report of three cases and literature review.
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We diagnosed Fanconi's syndrome (phosphate depletion and dysfunction of the renal tubules) in three HIV(+) patients. This was temporally related to their HIV treatment. Physicians caring for patients with HIV should recognize the association of this rare syndrome with antiretroviral medications and
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