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Cystic fibrosis transmembrane conductance regulator gene mutations cause 'black' pigment gallstone formation: new insights from mouse models and implications for therapeutic interventions in cystic fibrosis

机译：囊性纤维化跨膜电导调节剂基因突变引起'黑色'颜料胆结石形成：来自小鼠模型的新见解，以及对囊性纤维化治疗干预的影响

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Cystic fibrosis (CF) is caused by mutations in the ABCC7 gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-depen-dent Cl~ channel. The gene consists of 6129 base pairs on chromosome 7, and over 1200 mutations have been identified. In the hepatobiliary system, CFTR, a transmembrane protein, is located on the apical membranes of cholangiocytes and cholecystocytes but not hepatocytes. As there are no reliable serum markers, establishing the true prevalence of hepatobiliary disease in CF is difficu moreover, definitions of clinical liver disease vary. Estimates of the prevalence of liver disease range from 4.2% to 27% depending on age. Liver disease has become the third leading cause of death in CF. The classical hepatic histopathological lesions of CF liver disease are focal biliary fibrosis, multilobular cirrhosis and 'black' pigment gallstones.

机译：囊性纤维化（CF）是由ABCC7基因中的突变引起的，所述ABCC7基因编码囊性纤维化跨膜电导调节器（CFTR），营养蛋白凹陷CL〜通道。该基因由染色体7上的6129碱基对组成，并鉴定了超过1200个突变。在肝胆碱系统中，CFTR，跨膜蛋白，位于胆管细胞和胆囊细胞的顶端膜上，但不是肝细胞。由于没有可靠的血清标记，因此难以建立CF中肝胆疾病的真正患病率;此外，临床肝病的定义变化。根据年龄，肝病患病率的估计范围为4.2％至27％。肝病已成为CF中的第三次死亡原因。 CF肝病的经典肝细胞病理病变是局灶性纤维纤维化，多种肝硬化和“黑色”颜料胆结石。

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《Falk Symposium》|2004年||共4页
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A. L. BRODERICK; H. WITTENBURG; M. A. LYONS; K. D. R. SETCHELL; A. F. HOFMANN; M. C. CAREY;
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中图分类胆囊疾病;
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1. A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening [J] . Valeria Faà* Pietro Pellegrini Bettoli Maria Demurtas Maurizio Zanda Vincenzina Ferri Antonio Cao* and Maria Cristina Rosatelli Journal of Molecular Diagnostics . 2006,第4期

机译：囊性纤维化跨膜电导调节基因的新插入/删除占撒丁岛囊性纤维化突变的3.4％：对人口筛选的影响。
2. A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in sardinia: implications for population screening. [J] . Faa V, Bettoli PP, Demurtas M, The Journal of molecular diagnostics: JMD . 2006,第4期

机译：囊性纤维化跨膜电导调节基因的新插入/缺失占沙丁鱼囊性纤维化突变的3.4％：对人群筛查具有重要意义。
3. Binding screen for cystic fibrosis transmembrane conductance regulator correctors finds new chemical matter and yields insights into cystic fibrosis therapeutic strategy [J] . Hall Justin D., Wang Hong, Byrnes Laura J., Protein Science: A Publication of the Protein Society . 2016,第2期

机译：囊性纤维化跨膜电导调节器校正剂的绑定筛选发现新的化学物质，并提供有关囊性纤维化治疗策略的见解
4. Cystic fibrosis transmembrane conductance regulator gene mutations cause 'black' pigment gallstone formation: new insights from mouse models and implications for therapeutic interventions in cystic fibrosis [C] . A. L. BRODERICK, H. WITTENBURG, M. A. LYONS, Falk Symposium . 2004

机译：囊性纤维化跨膜电导调节剂基因突变引起'黑色'颜料胆结石形成：来自小鼠模型的新见解，以及对囊性纤维化治疗干预的影响
5. Detection of Cystic Fibrosis Transmembrane Conductance Regulator DeltaF508 Gene Mutation Using a Paper-Based Nucleic Acid Hybridization Assay and a Smartphone Camera [D] . Malhotra, Karan. 2018

机译：纸质核酸杂交检测和智能手机相机检测囊性纤维化跨膜电导调节剂DeltaF508基因突变
6. A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4 of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening [O] . Valeria Faà, Pietro Pellegrini Bettoli, Maria Demurtas, 2006

机译：囊性纤维化跨膜电导调节基因的新插入/删除占撒丁岛囊性纤维化突变的3.4％：对人口筛选的影响。
7. Mutações do gene cystic fibrosis transmembrane conductance regulator e deleções dos genes glutationa S-transferase em pacientes com fibrose cística no Brasil Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil [O] . Carmen Silvia Passos Lima, Manoela Marques Ortega, Fernando Augusto Lima Marson, 2012

机译：巴西囊性纤维化患者囊性纤维化跨膜传导调节基因的突变和谷胱甘肽s-转移酶基因的缺失囊性纤维化跨膜传导调节基因突变和谷胱甘肽s-转移酶null

Cystic fibrosis transmembrane conductance regulator gene mutations cause 'black' pigment gallstone formation: new insights from mouse models and implications for therapeutic interventions in cystic fibrosis

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