Results 21 to 30 of about 13,537 (162)

Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome

Stem Cell Research, 2021
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated.
Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo   +6 more
doaj   +1 more source

Anesthetic challenges in a child with Lowe's and Fanconi syndrome

Indian Journal of Anaesthesia, 2018
Oculocerebrorenal syndrome of Lowe is a rare X-linked metabolic disorder complicated by Fanconi's syndrome. Anaesthetic management of Lowe syndrome with Fanconi's syndrome is challenging to the anaesthesiologists in view of difficult airway due to ...
Shital Digambar Chaudhari, Manpreet Kaur
doaj   +1 more source

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

BMC Medical Genomics, 2021
Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen, Jianhua Zhou   +6 more
doaj   +1 more source

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Scientific Reports, 2017
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun   +8 more
doaj   +1 more source

Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India [PDF]

Journal of Krishna Institute of Medical Sciences University, 2014
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase.
Dipankar Das, Shoumini Chakravarty, Jaydeb Ray   +2 more
doaj  

Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome

Journal of the Formosan Medical Association, 2009
The oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system.
Jia-Woei Hou
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)

Stem Cell Research, 2021
Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.
Rengchen Qian, Long Wang, Huihui Chen, Yinjuan Ding, Dexuan Wang, Congde Chen, Maoping Chu, Xiaoou Shan, Xiaoling Guo   +8 more
doaj   +1 more source

Lowe syndrome: case report

Zdravniški Vestnik, 2018
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular
Eva Bahor, Rina Rus
doaj   +1 more source

Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene

Saudi Journal of Kidney Diseases and Transplantation, 2020
The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Suman Sethi, Nitin Sethi, Sudhir Mehta, Simran Kaur, Vikas Makkar, P M Sohal   +5 more
doaj   +1 more source

Untangling Inositol (Pyro)Phosphate Biology Through Emerging Technologies

Advanced Science, EarlyView.
Inositol (pyro)phosphates represent a vital class of intracellular messengers that govern multiple biological processes. The last decade has experienced a surge of interest in the functions of this class of signaling molecules, primarily due to the introduction of several innovative analytical technologies.
Adolfo Saiardi, Mengsi Lu, Yue Zhang, Anuj Shukla, An‐Li Andrea Ko, Henning J. Jessen   +5 more
wiley   +1 more source