Results 21 to 30 of about 731 (137)
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 +5 more
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New Phytologist, Volume 232, Issue 6, Page 2440-2456, December 2021., 2021 Summary Activation of nucleotide‐binding leucine‐rich repeat receptors (NLRs) results in immunity and a localized cell death. NLR cell death activity requires oligomerization and in some cases plasma membrane (PM) localization. The exact mechanisms underlying PM localization of NLRs lacking predicted transmembrane domains or recognizable lipidation ...
Svenja C. Saile +14 more
wiley +1 more source
FEBS Open Bio, Volume 11, Issue 8, Page 2078-2094, August 2021., 2021 Identifying differentially expressed genes is critical in exploring molecular mechanisms of cancers. A high level of differential gene expression is not an essential factor for tumorigenesis. We developed an optimization platform that can identify oncogenes with low levels of differential expression and potential therapeutic targets for cancer ...
You‐Tyun Wang +4 more
wiley +1 more source
Frontiers in Pediatrics, 2021 Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns.
Ling Hou +4 more
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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 +7 more
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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
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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
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Lowe syndrome: a single center's experience in Korea [PDF]
Korean Journal of Pediatrics, 2014 PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global ...
Hyun-Kyung Kim +6 more
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SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase
Cell Reports, 2021 Summary: Legionella pneumophila grows intracellularly within a replication vacuole via action of Icm/Dot-secreted proteins. One such protein, SdhA, maintains the integrity of the vacuolar membrane, thereby preventing cytoplasmic degradation of bacteria ...
Won Young Choi +7 more
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Muscle Hypotonia in Lowe’s Syndrome
Pediatric Neurology Briefs, 1991 As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were ...
J Gordon Millichap
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