
NPHP4 Gene - GeneCards | NPHP4 Protein | NPHP4 Antibody
2024年12月25日 · NPHP4 (Nephrocystin 4) is a Protein Coding gene. Diseases associated with NPHP4 include Nephronophthisis 4 and Senior-Loken Syndrome 4. Among its related …
NPHP4 - Wikipedia
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene. [5] [6] [7] This gene encodes a protein which contains a proline-rich region. The encoded protein may function in …
Nature Communications |曹木青课题组等揭示纤毛疾病相关蛋白参 …
该研究综合使用生化细胞、蛋白组学、电子显微镜、超分辨成像等技术,阐明了纤毛过渡区以 TCTN1 为代表的 MKS 复合物、以 NPHP4 为代表的 NPHP 复合物,和过渡区 / 基体 CEP290 …
Entry - *607215 - NEPHROCYSTIN 4; NPHP4 - OMIM
2024年7月18日 · In 3 sibs from a nonconsanguineous French family (F171) with juvenile nephronophthisis (NPHP4; 606966), who also exhibited oculomotor apraxia, Mollet et al. …
NPHP4 nephrocystin 4 [Homo sapiens (human)] - Gene - NCBI
2025年2月8日 · Title: NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to …
NPHP4 nephrocystin 4 - NIH Genetic Testing Registry (GTR) - NCBI
2025年1月4日 · NPHP4 nephrocystin 4 Gene ID: 261734, updated on 4-Jan-2025 Gene type: protein coding Also known as: POC10; SLSN4. See all available tests in GTR for this gene; …
NPHP4, a cilia-associated protein, negatively regulates the Hippo ...
2011年5月16日 · In this paper, we show that NPHP4, a known cilia-associated protein that is mutated in the severe degenerative renal disease nephronophthisis, acts as a potent negative …
NPHP4 - nephrocystin 4 Gene - MCE-生物活性分子大师
Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. …
261734 - Gene ResultNPHP4 nephrocystin 4 [ (human)]
2025年2月8日 · NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 …
慢性肾衰竭4型_慢性肾衰竭4型疾病数据库_慢性肾衰竭4型疾病表征…
NPHP4,也被称为nphp4,与锥-棒视网膜病变1和Joubert综合征7有关,其症状包括多尿和多饮。 与NPHP4相关的基因是NPHP4(Nephrocystin 4),其相关通路/超通路包括视觉光转导 …