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14:36 Oct 24, 2022 |
English to Dutch translations [PRO] Medical - Genetics | |||||||
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| Selected response from: Barend van Zadelhoff Netherlands Local time: 04:37 | ||||||
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Summary of answers provided | ||||
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3 | in vrijwel alle lichaamsweefsels ... tot expressie gebracht |
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Discussion entries: 1 | |
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in vrijwel alle lichaamsweefsels ... tot expressie gebracht Explanation: Cystinosin is ubiquitously expressed on lysosomal membranes. Cystinosine wordt overal in het lichaam / in vrijwel alle lichaamsweefsels op het lysosomale membraan tot expressie gebracht An ubiquitously expressed transcription Factor, means that the factor is expressed everywhere in the organism. This is because it may be involved in the transcriprion of a housekeeping genes for example RNA polymerase sub units or an ubiquotously transcribed genes, lets think about actin or tubulin. https://www.quora.com/What-is-the-neaning-of-ubiquitously-ex... The ubiquitously expressed genes (UEGs) refer to those genes expressed across a majority, if not all, phenotypic and physiological conditions of an organism. It is known that many human genes are broadly expressed across tissues. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874020/ Fortunately, the CTNS gene is ubiquitously expressed, and accumulation of increased cystine has been demonstrated in various tissues and cell lines, including fibroblasts, proximal tubular cells, and PBMCs https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874020/ Cystinosin is ubiquitously expressed on lysosomal membranes and functions as a proton/cystine symporter (1 : 1 molar ratio); cystine efflux is driven by the lysosomal proton gradient [7, 8]. In the absence of a functional cystinosin protein, cystine accumulates and crystallizes in the lysosomal lumen. The exact mechanisms that cause clinical symptoms remain incompletely understood and may differ in different tissues. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158338/ Het eiwit Het CTNS-gen codeert voor het eiwit cystinosine, dat bestaat uit 367 aminozuren. Cystinosine heeft 7 transmembraandomeinen en 2 zogenaamde doelsequenties die de lokalisatie van het eiwit in het lysosomaal membraan bepalen (figuur 2). Cystinosine functioneert als een H+-cotransporter en verplaatst cystine en protonen uit het lysosoom. De daling van de pH in het lysosoom door H+-ATPase is noodzakelijk voor de normale functie van cystinosine (figuur 3).5 https://www.ntvg.nl/artikelen/van-gen-naar-ziekte-cystinose |
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