日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions

对先前报道的OCRL剪接变体及其表型贡献进行全面的剪接模式分析

期刊:Kidney International Reports
影响因子:5.7
doi:10.1016/j.ekir.2025.02.023.
Rini Rossanti,Eri Okada,Nana Sakakibara,Ryota Suzuki,Yuta Inoki,Yuta Ichikawa,Yu Tanaka,Hideaki Kitakado,Chika Ueda,Atsushi Kondo,Yuya Aoto,China Nagano,Tomoko Horinouchi,Tomohiko Yamamura,Shingo Ishimori,Kandai Nozu
OCRL
发表日期：2025
文献求助 收藏

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants

对9名中国Dent病患儿的临床特征和基因分析，并鉴定出3个新的CLCN5和OCRL变异体

期刊:Renal Failure
影响因子:3
doi:10.1080/0886022X.2025.2476222
Jiang, Xinyi; Lin, Hongzhou; Zhu, Qifan; Chen, Huihui; Huang, Yutong; Huang, Xiu-Feng; Wang, Dexuan
CLC
OCRL
发表日期：2025
文献求助 收藏

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

由OCRL基因Asp631Glu突变引起的Dent-2型疾病，其表型类似于Bartter病。

期刊:BMC Nephrology
影响因子:2.4
doi:10.1186/s12882-022-02812-9
Drosataki, Eleni; Maragkou, Sevasti; Dermitzaki, Kleio; Stavrakaki, Ioanna; Lygerou, Dimitra; Latsoudis, Helen; Pleros, Christos; Petrakis, Ioannis; Zaganas, Ioannis; Stylianou, Kostas
OCRL
发表日期：2022
文献求助 收藏

A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test

经仔细检查学校尿检结果后，确诊为伴有OCRL大片段缺失的Dent病2型病例。

期刊:CEN Case Reports
影响因子:0.7
doi:10.1007/s13730-022-00685-3
Motoyoshi, Yaeko; Yabuuchi, Tomoo; Miura, Kenichiro; Hattori, Motoshi; Kiyohara, Koji
OCRL
发表日期：2022
文献求助 收藏

SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase

SdhA 通过劫持 OCRL 磷酸酶来阻止军团菌液泡的破坏

期刊:Cell Reports
影响因子:7.5
doi:10.1016/j.celrep.2021.109894
Won Young Choi, Seongok Kim, Philipp Aurass, Wenwen Huo, Elizabeth A Creasey, Marc Edwards, Martin Lowe, Ralph R Isberg
OCRL
发表日期：2021
文献求助 收藏

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Dent 病 2 的基因型-表型相关性及文献综述：OCRL 基因多效性还是 Lowe 综合征的极端表型变异？

期刊:Genes
影响因子:2.8
doi:10.3390/genes12101597
Gianesello, Lisa; Arroyo, Jennifer; Del Prete, Dorella; Priante, Giovanna; Ceol, Monica; Harris, Peter C; Lieske, John C; Anglani, Franca
OCRL
发表日期：2021
文献求助 收藏

A role for OCRL in glomerular function and disease

OCRL 在肾小球功能和疾病中的作用

期刊:Pediatric Nephrology
影响因子:2.6
doi:10.1007/s00467-019-04317-4
Rebecca Preston, Richard W Naylor, Graham Stewart, Agnieszka Bierzynska, Moin A Saleem, Martin Lowe, Rachel Lennon
信号转导
FCM
IF
IHC-P
WB
OCRL
发表日期：2020
文献求助 收藏

Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

在洛韦综合征患者中发现了OCRL1蛋白相互作用ASH结构域的两个新的错义突变。

期刊:Intractable & Rare Diseases Research
影响因子:1.6
doi:10.5582/irdr.2020.03092
Perdomo-Ramirez, Ana; Antón-Gamero, Montserrat; Rizzo, Daniela Sakaguchi; Trindade, Amelia; Ramos-Trujillo, Elena; Claverie-Martin, Felix
OCRL
发表日期：2020
文献求助 收藏

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex

来自 Lowe 综合征患者 iPSC 的肾分化细胞表现出纤毛发生缺陷和高尔基复合体中的 Six2 滞留

期刊:PLoS One
影响因子:2.9
doi:10.1371/journal.pone.0192635
Wen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, Ruben Claudio Aguilar
细胞生物学
其它细胞
FCM
IF
IHC-P
WB
OCRL
发表日期：2018
文献求助 收藏

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation

Dent病2型中人类OCRL旁系同源基因的双基因突变与Chiari I型畸形相关

期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/hgv.2016.42
Duran, Daniel; Jin, Sheng Chih; DeSpenza, Tyrone Jr; Nelson-Williams, Carol; Cogal, Andrea G; Abrash, Elizabeth W; Harris, Peter C; Lieske, John C; Shimshak, Serena Je; Mane, Shrikant; Bilguvar, Kaya; DiLuna, Michael L; Günel, Murat; Lifton, Richard P; Kahle, Kristopher T
OCRL
发表日期：2016
文献求助 收藏