ciliopathies/edema

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A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report.

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Prijava / prijava

Ciliopathies is a group of clinically and genetically overlapping disorders due to cilia abnormalities and multiple organ systems are involved in.We present a young female patient who showed renal function impairment, Caroli syndrome (CS), liver cirrhosis,

Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.

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Prijava / prijava

Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. A female affected by Alström

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.

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Prijava / prijava

Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) have different pathophysiologic mechanisms. We report a patient with retinitis pigmentosa (RP) with ICS due to a mutation in the male germ cell-associated kinase (MAK) gene. A 41-year-old Ashkenazi Jewish male was referred

Sept7b is essential for pronephric function and development of left-right asymmetry in zebrafish embryogenesis.

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Prijava / prijava

The conserved septin family of filamentous small GTPases plays important roles in mitosis, cell migration and cell morphogenesis by forming scaffolds and diffusion barriers. Recent studies in cultured cells in vitro indicate that a septin complex of septin 2, 7 and 9 is required for ciliogenesis and

IFT46 plays an essential role in cilia development.

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Prijava / prijava

Cilia are microtubule-based structures that project into the extracellular space. Ciliary defects are associated with several human diseases, including polycystic kidney disease, primary ciliary dyskinesia, left-right axis patterning, hydrocephalus and retinal degeneration. However, the genetic and

Wtip and Vangl2 are required for mitotic spindle orientation and cloaca morphogenesis.

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Prijava / prijava

Defects in cilia and basal bodies function are linked to ciliopathies, which result in kidney cyst formation. Recently, cell division defects have been observed in cystic kidneys, but the underlying mechanisms of such defects remain unclear. Wtip is an LIM domain protein of the Ajuba/Zyxin family,

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