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Double-stranded RNA induces an antiviral defense status in epidermal keratinocytes through TLR3-, PKR-, and MDA5/RIG-I-mediated differential signaling.
Emerging evidence suggests an important role for human epidermal keratinocytes in innate immune mechanisms against bacterial and viral skin infections. The proinflammatory effect of viral infectionsExpand
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Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
Adducted thumb-clubfoot syndrome is an autosomal-recessive disorder characterized by typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet,Expand
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Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model
Autosomal recessive microvillus inclusion disease (MVID) is characterized by an intractable diarrhea starting within the first few weeks of life. The hallmarks of MVID are a lack of microvilli on theExpand
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Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder
BACKGROUND 138 infants and young children died from an endemic infantile liver cirrhosis in a circumscribed rural area of western Austria between 1900 and 1974. Frequency of the disease peakedExpand
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The bHLH transcription factor Olig3 marks the dorsal neuroepithelium of the hindbrain and is essential for the development of brainstem nuclei
The Olig3 gene encodes a bHLH factor that is expressed in the ventricular zone of the dorsal alar plate of the hindbrain. We found that the Olig3+ progenitor domain encompassed subdomains thatExpand
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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises from disruptingExpand
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Fe–Mg interdiffusion rates in clinopyroxene: experimental data and implications for Fe–Mg exchange geothermometers
Abstract Chemical interdiffusion of Fe–Mg along the c-axis [001] in natural diopside crystals (XDi = 0.93) was experimentally studied at ambient pressure, at temperatures ranging from 800 to 1,200 °CExpand
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An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking
Significance Microvillus inclusion disease (MVID) is a rare intestinal enteropathy resulting in severe diarrhoea in neonates. Here, we have generated an intestine-specific knockout mouse model forExpand
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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Autosomal-recessive congenital sodium diarrhea (CSD) is characterized by perinatal onset of a persistent watery diarrhea with nonproportionally high fecal sodium excretion. Defective jejunalExpand
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Direct Plant Tissue Analysis and Imprint Imaging by Desorption Electrospray Ionization Mass Spectrometry
The ambient mass spectrometry technique, desorption electrospray ionization mass spectrometry (DESI-MS), is applied for the rapid identification and spatially resolved relative quantification ofExpand
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