Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.
Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.
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多种基因同一种疾病？肾结核 (NPHP) 和 NPHP 相关疾病的遗传学。
DOI：
10.3389/fped.2017.00287
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发表时间：
2017
影响因子：
2.6
通讯作者：
Sayer JA
中科院分区：
文献类型：
--
作者：
Srivastava S;Molinari E;Raman S;Sayer JA
肾病（NPHP）是一种肾脏纤毛病，是囊性肾病、肾纤维化和终末期肾衰竭的常染色体隐性病因，影响儿童和年轻人。分子遗传学研究已经确定了20多个基因，其蛋白产物都与纤毛、中心体或有丝分裂纺锤体功能有关。在大约15%的病例中，有纤毛病变综合征的其他特征，包括视网膜缺陷，肝纤维化，骨骼异常和大脑发育障碍。同时，基因鉴定也引起了对疾病发病机制的分子机制的认识。NPHP的遗传原因是如何帮助我们定义可治疗的疾病通路，包括环磷酸腺苷通路，mTOR通路，刺猬信号通路和DNA损伤反应通路。虽然许多类型的NPHP的潜在病理学仍然相似，但定义的疾病机制是多种多样的，并且可能需要用于NPHP患者治疗的个性化药物方法。
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are all related to cilia, centrosome, or mitotic spindle function. In around 15% of cases, there are additional features of a ciliopathy syndrome, including retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. Alongside, gene identification has arisen molecular mechanistic insights into the disease pathogenesis. The genetic causes of NPHP are discussed in terms of how they help us to define treatable disease pathways including the cyclic adenosine monophosphate pathway, the mTOR pathway, Hedgehog signaling pathways, and DNA damage response pathways. While the underlying pathology of the many types of NPHP remains similar, the defined disease mechanisms are diverse, and a personalized medicine approach for therapy in NPHP patients is likely to be required.
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影响因子：
5.1
作者：
Betz, R;Rensing, C;Hildebrandt, F
通讯作者：
Hildebrandt, F
影响因子：
4.5
作者：
Bachmann-Gagescu R;Dona M;Hetterschijt L;Tonnaer E;Peters T;de Vrieze E;Mans DA;van Beersum SE;Phelps IG;Arts HH;Keunen JE;Ueffing M;Roepman R;Boldt K;Doherty D;Moens CB;Neuhauss SC;Kremer H;van Wijk E
通讯作者：
van Wijk E
影响因子：
64.5
作者：
Chaki M;Airik R;Ghosh AK;Giles RH;Chen R;Slaats GG;Wang H;Hurd TW;Zhou W;Cluckey A;Gee HY;Ramaswami G;Hong CJ;Hamilton BA;Cervenka I;Ganji RS;Bryja V;Arts HH;van Reeuwijk J;Oud MM;Letteboer SJ;Roepman R;Husson H;Ibraghimov-Beskrovnaya O;Yasunaga T;Walz G;Eley L;Sayer JA;Schermer B;Liebau MC;Benzing T;Le Corre S;Drummond I;Janssen S;Allen SJ;Natarajan S;O'Toole JF;Attanasio M;Saunier S;Antignac C;Koenekoop RK;Ren H;Lopez I;Nayir A;Stoetzel C;Dollfus H;Massoudi R;Gleeson JG;Andreoli SP;Doherty DG;Lindstrad A;Golzio C;Katsanis N;Pape L;Abboud EB;Al-Rajhi AA;Lewis RA;Omran H;Lee EY;Wang S;Sekiguchi JM;Saunders R;Johnson CA;Garner E;Vanselow K;Andersen JS;Shlomai J;Nurnberg G;Nurnberg P;Levy S;Smogorzewska A;Otto EA;Hildebrandt F
通讯作者：
Hildebrandt F
影响因子：
4
作者：
Al-Hamed MH;Kurdi W;Alsahan N;Alabdullah Z;Abudraz R;Tulbah M;Alnemer M;Khan R;Al-Jurayb H;Alahmed A;Tahir AI;Khalil D;Edwards N;Al Abdulaziz B;Binhumaid FS;Majid S;Faquih T;El-Kalioby M;Abouelhoda M;Altassan N;Monies D;Meyer B;Sayer JA;Albaqumi M
通讯作者：
Albaqumi M
影响因子：
7.2
作者：
Braun DA;Hildebrandt F
通讯作者：
Hildebrandt F