Results 11 to 20 of about 1,281 (185)

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +8 more sources

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

Cataracts and Glaucoma in Patients With Oculocerebrorenal Syndrome [PDF]

Archives of Ophthalmology, 2003
Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules. Other ocular findings include glaucoma, corneal opacity (keloid), enophthalmos, and hypotonia.To describe the treatment of 7 patients (14 eyes) with ...
Stacey J, Kruger, M Edward, Wilson, Amy K, Hutchinson, Mae Millicent, Peterseim, Luanna R, Bartholomew, Richard A, Saunders   +5 more
openaire   +4 more sources

The role of the small GTPase Rab31 in cancer [PDF]

Journal of Cellular and Molecular Medicine, Volume 19, Issue 1, Page 1-10, January 2015., 2014
10.1111/jcmm.12403Journal of Cellular and Molecular Medicine1911 ...
Chua, Christelle En Lin, Tang, Bor Luen
core   +2 more sources

Lysosome positioning and mTOR activity in Lowe syndrome. [PDF]

EMBO Rep, 2021
Lowe syndrome is a rare, developmental disorder caused by mutations in the phosphatase, OCRL. A study in this issue of EMBO Reports shows that OCRL is required for microtubule nucleation and that mutations in this protein lead to an inability to activate
Karabiyik C, Son SM, Rubinsztein DC.
europepmc   +3 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

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

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

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