“…As dATP8B is a member of the phospholipid flippase family of ATPases, which function to determine asymmetry in phospholipid composition between the outer and inner leaflets of plasma membranes, our findings suggest a requirement for phospholipid asymmetry in the signalling of a specific family of chemoreceptor proteins.…”
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“…The authors describe a case of Klippel-Trenaunay syndrome (KTS) with massive splenomegaly in a 29-year-old woman. …”
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“…[Image: see text] Base unstacking in template strands, when accompanied by strand slippage, can result in deletion mutations during strand extension by nucleic acid polymerases. …”
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“…SUMMARY: A female patient with Klippel-Trenaunay syndrome, including hypertrophic bone and soft tissue in the forelimbs, bilateral lower limbs lymphedema, port-wine stains, and superficial veins of Servelle, was presented. …”
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“…Two of the P-type ATPases (flippases) in yeast, Dnf1 and Dnf2, translocate aminoglycerophospholipids from the outer to the inner leaflet, stimulated via phosphorylation by cortically localized protein kinase Fpk1. …”
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“…Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous hemangiomas, soft tissue and bony hypertrophy of limb. …”
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“…Klippel – Trenaunay – Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. …”
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“…Patients with Klippel-Feil syndrome (KFS) have an increased incidence of vascular anomalies as well as vertebral artery (VA) anomalies. …”
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“…Type IV P-type ATPases (P4-ATPases) are phospholipid flippases that translocate phospholipids from the exoplasmic (or luminal) to the cytoplasmic leaflet of lipid bilayers. …”
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“…We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel–Trénaunay–Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. …”
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“…A patient with Klippel–Feil syndrome presented with hydrocephalus secondary to intraventricular hemorrhage. …”
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“…BACKGROUND: Klippel–Trenaunay–Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel–Trenaunay–Weber syndrome have been published. …”
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“…We previously showed that TAT-5 phospholipid flippase activity maintains the asymmetric localization of the lipid phosphatidylethanolamine (PE) in the plasma membrane and inhibits EV budding by ectocytosis in Caenorhabditis elegans. …”
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“…Klippel-Feil syndrome is a congenital disorder characterized by the fusion of one or more cervical vertebrae leading to limitations in the rotation, extension, and flexion of the neck and possible neurological symptoms. …”
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“…Newly synthesized phospholipids (PLs) at the cytosolic leaflet of ER need to be translocated to the lumen side for membrane biogenesis and this is facilitated by a special class of lipid translocators called biogenic membrane flippase. Even though ER is the major site of cholesterol synthesis, it contains very low amounts of cholesterol, since newly synthesized cholesterol in ER is rapidly transported to other organelles and is highly enriched in plasma membrane. …”
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“…Klippel-Feil syndrome is a congenital malformation characterized by the fusion of at least 2 cervical vertebrae. …”
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“…In this study, we present the slippage span model, derived with the aim of establishing a relationship between slippage variation during the catalytic cycle, quantified in a novel and rigorous way, and the performance of catalysts in terms of turnover frequency, computed with the energy span model. …”
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