Results 201 to 210 of about 4,156 (218)

[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
Xinlong Zhou, Qingming Wang, Sini Zou, Xiaochun Hong, Haiming Yuan   +4 more
semanticscholar   +1 more source

OCRL controls actin reorganization in spreading and activation of human platelets

2021
Phosphatidylinositol-4, 5-bisphosphate [PI(4, 5)P2] is one of seven different phosphoinositides mostly localized at the plasma membrane. Its main functions are the regulation of endocytosis and actin reorganization. OCRL is a phosphatase that dephosphorylates PI(4, 5)P2 resulting in the formation of PI4P. Mutations in the OCRL cause Lowe syndrome which
Bura, Ana, Jurak Begonja, Antonija
openaire   +1 more source

A comprehensive description of the circulating tumor cell: OCRL.

The circulating tumor cell (CTC) is most likely responsible for effective metastasis (1-3). We measured total transcription in circulating tumor cells isolated from the blood of women with stage IV breast cancer to define at the molecular level the most significant changes that accompany dissemination in a migrating tumor cell population (4) and ...
openaire   +1 more source

[Analysis of OCRL gene mutation in a male infant with Lowe syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2014
To identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome (also called Lowe syndrome).Clinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents. All of the 24 exons and intron-exon splice sites of OCRL gene were amplified with PCR.
Suqin, Chen, Xinyu, Zhang, Luming, Chen, Qiuhong, Tian, Weiying, Jiang   +4 more
openaire   +1 more source

Lowe syndrome with anal atresia: A possible variant of OCRL?

Pediatrics International, 2003
Ferah, Sönmez, A Kübra, Temoçýn, Seyhan B, Ozkan, Betül, Akçanal, Can Z, Karaman, Münevver, Türkmen, Gülten, Inan   +6 more
openaire   +2 more sources

OCRL regulates lysosomal function and endolysosomal homeostasis in Drosophila nephrocytes

bioRxiv
Vaishali Kataria, Navyashree A Ramesh, Indra Sara Lama, Aishwarya Venugopal, A. Vasudevan, P. Raghu   +5 more
semanticscholar   +1 more source

Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome

Journal of Human Genetics, 2020
E. Nakano, A. Yoshida, Yudai Miyama, Tomoo Yabuuchi, Yuko Kajiho, Shoichiro Kanda, K. Miura, A. Oka, Y. Harita   +8 more
semanticscholar   +1 more source

G-185 A Novel OCRL Mutation With Focal Segmental Glomerulosclerosis Phenotype in Lowe Syndrome: Navigating Therapeutic Constraints

American Journal of Kidney Diseases

semanticscholar   +1 more source

Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome

Clinical and Experimental Nephrology, 2020
Junhui Sun, Zhongwei Zhou, C. Weng, Chaojun Wang, Jiao Chen, Xue Feng, P. Yu, M. Qi   +7 more
semanticscholar   +1 more source

[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
Z. Bai, Li'na Liu, Shuang Hu, X. Kong
semanticscholar   +1 more source