Results 111 to 120 of about 1,383 (138)

A genetic and physiological model of renal dysfunction in Lowe syndrome

Ramesh NA, Kataria V, Lama IS, Thakur R, Ghosh A, Sharma S, Venugopal A, Vasudevan A, Padinjat R.   +8 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

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

Clinical and Experimental Nephrology, 2020
Lowe syndrome is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. The main causes are mutations in the OCRL gene that encodes a member of the inositol polyphosphate-5-phosphatase protein family. In this study, we aimed to gain new insights into the consequences of a novel OCRL intronic variant on pre-mRNA splicing as a main ...
Zhongwei Zhou, Chaojun Wang, Ming Qi
exaly   +3 more sources

Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations

Pediatric Nephrology, 2016
The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent disease, of which low-molecular-weight (LMW) proteinuria is a characteristic feature.
Hiroyasu Tsukaguchi, Kazunari Kaneko, Shoji Tsuji   +2 more
exaly   +3 more sources

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome

European Journal of Medical Genetics, 2017
Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than 250 have been reported so far.
Keita Nakanishi, Kandai Nozu, Ryugo Hiramoto, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Tomoko Horinouchi, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Shingo Ishimori, Koichi Nakanishi, Ichiro Morioka, Hiroyuki Awano, Masafumi Matsuo, Kazumoto Iijima   +15 more
openaire   +2 more sources

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

Human Molecular Genetics, 1993
A candidate gene, OCRL-1, for the oculocerebrorenal syndrome of Lowe (OCRL) has been identified via positional cloning strategies. We have now developed RT-PCR techniques which allow amplification of nearly all of the open reading frame from total RNA and have used the PCR products for mutational analysis.
A M, Leahey, L R, Charnas, R L, Nussbaum
openaire   +2 more sources

[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, 2021
To explore the genotype-phenotype correlation of a Chinese pedigree affected with Lowe syndrome.Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of his pedigree.The proband, a 3-year-and-5-month-old male, presented with multiple anomalies including congenital cataract, glaucoma, brain dysplasia, renal ...
Xinlong, Zhou, Qingming, Wang, Sini, Zou, Xiaochun, Hong, Haiming, Yuan   +4 more
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