Results 11 to 20 of about 731 (137)

Angiosarcoma of an Arteriovenous Fistula for Hemodialysis in a Kidney Transplant Recipient Affected by Lowe’s Syndrome

Case Reports in Nephrology, 2020
Objective/Background. To describe an uncommon, life-threatening condition such as angiosarcoma of a fistula for hemodialysis occurring in a transplant recipient affected by Lowe’s syndrome. Summary.
V. D’Ambrosio, P. Silvestri, F. Aureli, A. Sturniolo, G. Grandaliano, P. M. Ferraro   +5 more
doaj   +2 more sources

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers [PDF]

Frontiers in Cell and Developmental Biology
Lowe syndrome (LS) is a rare genetic disorder leading to significant physical and cognitive impairments. Recognizing the need to bridge the gap between researchers and the LS community, a collaborative patient and public involvement (PPI) project, Lowe ...
Theresa Haugen, Theresa Haugen, Jennifer L. Gallop, Jennifer L. Gallop, Hélène Doerflinger, Hélène Doerflinger   +5 more
doaj   +2 more sources

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. [PDF]

Am J Hum Genet, 1997
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, mental retardation, and renal Fanconi syndrome. The OCRL1 gene, which, when mutated, is responsible for OCRL, encodes a 105-kD Golgi protein with phosphatidylinositol (4,5)bisphosphate (PtdIn[4,5]P2) 5-phosphatase activity.
Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL.   +6 more
europepmc   +3 more sources

Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe

Ceylon Medical Journal, 2013
A 3-months old infant born to non-consanguineous parents was evaluated for hypotonia and developmental delay. He had a cataract in left eye, congenital glaucoma and megalocornea in right eye with no other dysmorphism. Anterior fontanelle was widely open. He was hypotonic with diminished tendon reflexes.
Sachith Mettananda
exaly   +4 more sources

MR findings in oculocerebrorenal syndrome. [PDF]

AJNR Am J Neuroradiol, 1993
Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation, renal disease, and metabolic bone disease. We report a case of oculocerebrorenal syndrome and, using T1-, proton density-, and T2-weighted imaging sequences, are able to characterize two distinct white matter abnormalities:
Carroll WJ, Woodruff WW, Cadman TE.
europepmc   +2 more sources

Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma [PDF]

Ophthalmology Glaucoma
Janet Alexander, Moran Levin, He Forbes   +2 more
exaly   +2 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

Humanization for neurological disease modeling: A roadmap to increase the potential of Drosophila model systems

Animal Models and Experimental Medicine, Volume 6, Issue 3, Page 230-236, June 2023., 2023
Graphical abstract reflects the power of Drosophila in modeling human diseases for understanding the disease etiology and drug discovery and validation, as the main goals of the HumanaFly facility of the Faculty of Medicine, University of Geneva. Abstract Neuroscience and neurology research is dominated by experimentation with rodents.
Vladimir L. Katanaev
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Rossignol F, Lamari F, Mitchell GA.
europepmc   +2 more sources

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source