Matches in SemOpenAlex for { <https://semopenalex.org/work/W3147948369> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W3147948369 endingPage "555" @default.
- W3147948369 startingPage "551" @default.
- W3147948369 abstract "背景概括了 glucocorticoid 抵抗症候群一个稀罕家庭或分散的条件被描绘由概括，部分，目标织物 insensitivity 到 glucocorticoids。这症候群被变化部分在人的 glucocorticoid 引起受体(hGR ) 基因。概括 glucocorticoid 抵抗的临床的光谱是宽广的，从到有 hypokalemic 硷毒症的严重高血压的疲劳或没有症状。这研究的目的是探索一个 56 岁的男病人诊断了，概括 glucocorticoid 抵抗症候群与一个肾上腺皮质的腺瘤伴随了的我们识别了的 glucocorticoid 抵抗 syndrome.Methods 的基因混乱。这个无征状的病人为他的肾的 incidentaloma 的治疗参考了北京联合医学院医院。Endocrinological 评估一致地揭示了他的提高的浆液皮质醇水平。全部的 RNA 从病人的外部血 mononuclear 白血球(PBML ) 被提取， hGR alpha 的全部编码区域被反向的抄写(RT ) 放大 -PCR。为了证实可能的变化，由定序 RT-PCR 产品识别了，从病人和 50 健康控制的 hGR 基因的 genomic DNA 顺序被 PCR 并且直接分析在 1667 的核苷酸位置的 sequencing.Results A heterozygotic ( CT )替换( exon 5 )在 GR alpha ，基因被 hGR 基因的 RT-PCR 产品定序在这个病人发现。这替换也在 genomic DNA 水平被识别，它在从 50 无关的健康控制的 100 个染色体是不在的。这替换在在 GR alpha 的 ligand 有约束力的领域的氨基酸 556 点导致了 threonine 到异白氨酸替换(ACTATT ) 。在这个病人的概括 glucocorticoid 抵抗可能被一个新奇 heterozygotic 变化在 GR alpha 的 ligand 有约束力的领域引起的结论。" @default.
- W3147948369 created "2021-04-13" @default.
- W3147948369 creator A5015260181 @default.
- W3147948369 creator A5015957079 @default.
- W3147948369 creator A5017454066 @default.
- W3147948369 creator A5025080438 @default.
- W3147948369 creator A5032245741 @default.
- W3147948369 creator A5032483419 @default.
- W3147948369 creator A5036457690 @default.
- W3147948369 creator A5037885070 @default.
- W3147948369 creator A5049467286 @default.
- W3147948369 creator A5052334381 @default.
- W3147948369 creator A5053780153 @default.
- W3147948369 creator A5057242521 @default.
- W3147948369 creator A5073161777 @default.
- W3147948369 creator A5080776696 @default.
- W3147948369 creator A5081652936 @default.
- W3147948369 creator A5089121389 @default.
- W3147948369 creator A5089844559 @default.
- W3147948369 creator A5090079801 @default.
- W3147948369 creator A5090403503 @default.
- W3147948369 date "2011-01-01" @default.
- W3147948369 modified "2023-10-18" @default.
- W3147948369 title "Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene" @default.
- W3147948369 hasPublicationYear "2011" @default.
- W3147948369 type Work @default.
- W3147948369 sameAs 3147948369 @default.
- W3147948369 citedByCount "0" @default.
- W3147948369 crossrefType "journal-article" @default.
- W3147948369 hasAuthorship W3147948369A5015260181 @default.
- W3147948369 hasAuthorship W3147948369A5015957079 @default.
- W3147948369 hasAuthorship W3147948369A5017454066 @default.
- W3147948369 hasAuthorship W3147948369A5025080438 @default.
- W3147948369 hasAuthorship W3147948369A5032245741 @default.
- W3147948369 hasAuthorship W3147948369A5032483419 @default.
- W3147948369 hasAuthorship W3147948369A5036457690 @default.
- W3147948369 hasAuthorship W3147948369A5037885070 @default.
- W3147948369 hasAuthorship W3147948369A5049467286 @default.
- W3147948369 hasAuthorship W3147948369A5052334381 @default.
- W3147948369 hasAuthorship W3147948369A5053780153 @default.
- W3147948369 hasAuthorship W3147948369A5057242521 @default.
- W3147948369 hasAuthorship W3147948369A5073161777 @default.
- W3147948369 hasAuthorship W3147948369A5080776696 @default.
- W3147948369 hasAuthorship W3147948369A5081652936 @default.
- W3147948369 hasAuthorship W3147948369A5089121389 @default.
- W3147948369 hasAuthorship W3147948369A5089844559 @default.
- W3147948369 hasAuthorship W3147948369A5090079801 @default.
- W3147948369 hasAuthorship W3147948369A5090403503 @default.
- W3147948369 hasConcept C104317684 @default.
- W3147948369 hasConcept C126322002 @default.
- W3147948369 hasConcept C134018914 @default.
- W3147948369 hasConcept C176944494 @default.
- W3147948369 hasConcept C2780841215 @default.
- W3147948369 hasConcept C36823959 @default.
- W3147948369 hasConcept C501734568 @default.
- W3147948369 hasConcept C54355233 @default.
- W3147948369 hasConcept C59493245 @default.
- W3147948369 hasConcept C71924100 @default.
- W3147948369 hasConcept C86803240 @default.
- W3147948369 hasConceptScore W3147948369C104317684 @default.
- W3147948369 hasConceptScore W3147948369C126322002 @default.
- W3147948369 hasConceptScore W3147948369C134018914 @default.
- W3147948369 hasConceptScore W3147948369C176944494 @default.
- W3147948369 hasConceptScore W3147948369C2780841215 @default.
- W3147948369 hasConceptScore W3147948369C36823959 @default.
- W3147948369 hasConceptScore W3147948369C501734568 @default.
- W3147948369 hasConceptScore W3147948369C54355233 @default.
- W3147948369 hasConceptScore W3147948369C59493245 @default.
- W3147948369 hasConceptScore W3147948369C71924100 @default.
- W3147948369 hasConceptScore W3147948369C86803240 @default.
- W3147948369 hasIssue "4" @default.
- W3147948369 hasLocation W31479483691 @default.
- W3147948369 hasOpenAccess W3147948369 @default.
- W3147948369 hasPrimaryLocation W31479483691 @default.
- W3147948369 hasRelatedWork W1848358197 @default.
- W3147948369 hasRelatedWork W1992034113 @default.
- W3147948369 hasRelatedWork W2015830945 @default.
- W3147948369 hasRelatedWork W2024946013 @default.
- W3147948369 hasRelatedWork W2028293843 @default.
- W3147948369 hasRelatedWork W2028891674 @default.
- W3147948369 hasRelatedWork W2051432571 @default.
- W3147948369 hasRelatedWork W2062209937 @default.
- W3147948369 hasRelatedWork W2068228017 @default.
- W3147948369 hasRelatedWork W2115308139 @default.
- W3147948369 hasRelatedWork W2119375584 @default.
- W3147948369 hasRelatedWork W2127748355 @default.
- W3147948369 hasRelatedWork W2139705203 @default.
- W3147948369 hasRelatedWork W2332847705 @default.
- W3147948369 hasRelatedWork W2375880276 @default.
- W3147948369 hasRelatedWork W239122099 @default.
- W3147948369 hasRelatedWork W2402918156 @default.
- W3147948369 hasRelatedWork W2432251707 @default.
- W3147948369 hasRelatedWork W2949742345 @default.
- W3147948369 hasRelatedWork W1977351512 @default.
- W3147948369 isParatext "false" @default.
- W3147948369 isRetracted "false" @default.
- W3147948369 magId "3147948369" @default.
- W3147948369 workType "article" @default.