- 関
- ネフロン癆
参考
- NEPHROCYSTIN 1; Gene map locus 2q13
- NEPHROCYSTIN 3; Gene map locus 3q22
- NEPHROCYSTIN 4; Gene map locus 1p36
UpToDate Contents
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- 1. ネフロン癆の遺伝学および病因 genetics and pathogenesis of nephronophthisis
- 2. ネフロン癆の臨床症状、診断、および治療 clinical manifestations diagnosis and treatment of nephronophthisis
- 3. 小児における常染色体劣性多発性嚢胞腎 autosomal recessive polycystic kidney disease in children
English Journal
- The Function of Arf-like Proteins ARL2 and ARL3 in Photoreceptors.
- Hanke-Gogokhia C1,2, Zhang H3, Frederick JM4, Baehr W5,6,7.
- Advances in experimental medicine and biology.Adv Exp Med Biol.2016;854:655-61. doi: 10.1007/978-3-319-17121-0_87.
- Arf-like proteins (ARLs) are ubiquitously expressed small G proteins of the RAS superfamily. In photoreceptors, ARL2 and ARL3 participate in the trafficking of lipidated membrane-associated proteins and colocalize in the inner segment with UNC119A and PDEδ. UNC119A and PDEδ are acyl- and prenyl-bi
- PMID 26427472
- Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.
- Devi AN1, Anil Kumar TR1, Pillai SM2, Jayakrishnan K3, Kumar PG1.
- Andrology.Andrology.2015 Jul;3(4):685-93. doi: 10.1111/andr.12062.
- NPHP1, the gene that encodes the protein nephrocystin-1 has been identified to be mutated in Juvenile Nephronophthisis, an autosomal recessive cystic kidney disorder which is the most frequent genetic cause of end-stage renal disease (ESRD) in children and young adults. Nphp1-targeted mutant mice st
- PMID 26198798
- Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
- Barbelanne M1, Hossain D2, Chan DP3, Peränen J4, Tsang WY5.
- Human molecular genetics.Hum Mol Genet.2015 Apr 15;24(8):2185-200. doi: 10.1093/hmg/ddu738. Epub 2014 Dec 30.
- Proper functioning of cilia, hair-like structures responsible for sensation and locomotion, requires nephrocystin-5 (NPHP5) and a multi-subunit complex called the Bardet-Biedl syndrome (BBS)ome, but their precise relationship is not understood. The BBSome is involved in the trafficking of membrane c
- PMID 25552655
Japanese Journal
- ネフロン癆 (特集 小児疾患における臨床遺伝学の進歩) -- (話題の疾患遺伝子)
- 小児科 50(7), 1027-1030, 2009-06
- NAID 40016754656
- The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
- Nat Genet 38(6), 674-681, 2006
- NAID 80019177959
- Nephronophthisis : diagnostic difficulties and recent advances in molecular genetic diagnostics
- Clinical and experimental nephrology 9(4), 340-342, 2005-12-01
- NAID 10016914022
Related Links
- nephrocystin-1は分子量83kDの蛋白で，腎では尿細管上皮細胞の一次繊毛に存発現する。. 尿細管上皮細胞はインテグリン分子を架橋として基底膜と連結しており，細胞外から細胞内へ伝達されるシグナルは，これを介して核内に伝達される。. nephrocystinは，結合蛋白として，細胞対細胞，細胞対細胞外マトリックスのシグナル伝達や細胞接着に重要な役割を果たしている (2 ...
- In columnar respiratory cells, nephrocystin is attached tightly to the axonemal structure of the transition zone at a region that contains the calcium-sensitive cilia autotomy site. In patients with homozygous NPHP1 deletions
- NPHP4は，1p36上に存在し，nephrocystin-4（ne- phroretinin）分子をコードする．nephrocystin-4は， nephrocystin-1と協調して，尿細管上皮細胞におけ
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