Results 11 to 20 of about 1,632 (161)

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Genetics Research, 2022
Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao   +12 more
doaj   +3 more sources

Novel mutation in OCRL leading to a severe form of Lowe syndrome [PDF]

International Journal of Ophthalmology, 2019
AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral
Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu, Xu-Lin Zhang, Dong-Ni Wang, Mei-Mei Dongye, Hao-Tian Lin, Wei-Rong Chen   +7 more
doaj   +3 more sources

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease [PDF]

Italian Journal of Pediatrics
Background A prominent feature of Dent disease (DD) is the progressive decline in renal function, with 30% - 80% of male patients advancing to end-stage renal disease between the ages of 30 and 50 years.
Lanqi Zhou, Zuowei Yu, Yuan Yang, Yanxinli Han, Liru Qiu, Yu Zhang, Fengjie Yang, Jianhua Zhou   +7 more
doaj   +2 more sources

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study [PDF]

BMC Pregnancy and Childbirth
Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected.
Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen   +6 more
doaj   +2 more sources

Identification of Two Novel Variants in <i>CRYGD</i> and <i>OCRL</i> Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing. [PDF]

Hum Mutat
Background Genetic variants are the leading cause of congenital cataract (CC). To date, numerous genes have been implicated in the development of CC. The objective of the present study was to report two previously unrecognized gene variants associated with CC in two unrelated Chinese families, identified through whole exome sequencing (WES).
Zhuang J, Huang N, Chen YE, Lou H, Wang J, Fu W, Chen C.   +6 more
europepmc   +2 more sources

Dysregulation of Inositol Polyphosphate 5-Phosphatase OCRL in Alzheimer’s Disease: Implications for Autophagy Dysfunction [PDF]

International Journal of Molecular Sciences
Jean-Pierre Brion, Karelle Leroy, Katia Coulonval   +2 more
exaly   +2 more sources

Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL

Stem Cell Research, 2022
OCRL encodes for an inositol polyphosphate 5-phosphatase, located in the trans-Golgi network, endosomes, endocytic clathrin-coated pits, primary cilia. Mutations in OCRL causes Lowe syndrome (LS), a rare and complex disorder characterized by congenital ...
Grazia Iannello, Achchhe Patel, Dario Sirabella, Barbara Corneo, Vidhu V. Thaker   +4 more
doaj   +1 more source

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome

Children, 2023
Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
Violeta Iotova, Teodora Karamfilova, Mariya Levkova, Mariya Gaydarova, Sonya Galcheva, Dimitrichka Bliznakova   +5 more
doaj   +1 more source

Assessment of endocytic traffic and Ocrl function in the developing zebrafish neuroepithelium

Journal of Cell Science, 2022
ABSTRACT Endocytosis allows cells to internalise a wide range of molecules from their environment and to maintain their plasma membrane composition. It is vital during development and for maintenance of tissue homeostasis. The ability to visualise endocytosis in vivo requires suitable assays to monitor the process.
Daniel M. Williams, Lale Gungordu, Anthony Jackson-Crawford, Martin Lowe   +3 more
openaire   +3 more sources

Chronic renal failure revealing a Lowe’s syndrome. First case report from an Algerian family. [PDF]

Batna Journal of Medical Sciences, 2023
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder the causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1.
Ghalia Khellaf, Soumia Missoum, Amel Gazit, Fatima Abib, Ali Benziane   +4 more
doaj   +1 more source