Results 31 to 40 of about 731 (137)

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature

Journal of Medical Case Reports, 2019
Background Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans ...
P. Tatsi, G. E. Papanikolaou, T. Chartomatsidou, I. Papoulidis, A. Athanasiadis, R. Najdecki, E. Timotheou   +6 more
doaj   +1 more source

Síndrome de Lowe: relato de cinco casos Lowe syndrome: report of five cases

Brazilian Journal of Nephrology, 2010
INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL), tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM), déficit cognitivo e síndrome de Fanconi. OBJETIVO:
Marta Liliane de Almeida Maia, Maria Luiza Dautro Moreira do Val, Camila Penteado Genzani, Fernanda Alves Thomaz Fernandes, Maria Cristina de Andrade, João Tomás de Abreu Carvalhaes   +5 more
doaj   +1 more source

Abstract

, 2022
Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley   +1 more source

The role of the small GTPase Rab31 in cancer

Journal of Cellular and Molecular Medicine, Volume 19, Issue 1, Page 1-10, January 2015., 2015
Abstract Members of the small GTPase family Rab are emerging as potentially important factors in cancer development and progression. A good number of Rabs have been implicated or associated with various human cancers, and much recent excitement has been associated with the roles of the Rab11 subfamily member Rab25 and its effector, the Rab coupling ...
Christelle En Lin Chua, Bor Luen Tang
wiley   +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  

Activation‐Inactivation Cycling of Rab35 and ARF6 Is Required for Phagocytosis of Zymosan in RAW264 Macrophages

Journal of Immunology Research, Volume 2015, Issue 1, 2015., 2015
Phagocytosis of zymosan by phagocytes is a widely used model of microbial recognition by the innate immune system. Live‐cell imaging showed that fluorescent protein‐fused Rab35 accumulated in the membranes of phagocytic cups and then dissociated from the membranes of newly formed phagosomes.
Youhei Egami, Makoto Fujii, Katsuhisa Kawai, Yurie Ishikawa, Mitsunori Fukuda, Nobukazu Araki, Ghislain Opdenakker   +6 more
wiley   +1 more source

Staged Hand‐Assisted Bilateral Native Nephrectomy for Management of Posttransplant Polyuria in an Adult with Dent’s Disease

Case Reports in Transplantation, Volume 2015, Issue 1, 2015., 2015
Polyuria after kidney transplantation causes graft dysfunction and increased thrombotic risk. We present a case of a polyuric adult with Dent’s disease who underwent staged bilateral native nephrectomies, the first operation before transplant and the second four months after transplant.
Rosa M. Montero, Rachel Hilton, Jonathon Olsburgh, Piero Boraschi   +3 more
wiley   +1 more source

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

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 sporadic cases.
Solmaz Abdolrahimzadeh, Valeria Fameli, Roberto Mollo, Maria Teresa Contestabile, Andrea Perdicchi, Santi Maria Recupero, Flavio Mantelli   +6 more
wiley   +1 more source

Lowe syndrome

Orphanet Journal of Rare Diseases, 2006
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney.
Loi Mario
doaj   +1 more source

An Update on the Oculocerebrorenal Syndrome of Lowe: A Review Article

Journal of Comprehensive Pediatrics, 2022
Context: Lowe syndrome (LS) is a very uncommon syndrome that causes the death of young patients due to kidney diseases. This narrative review aimed to assess the clinical manifestations of LS, mainly the novel investigations of LS, to provide an update on the clinical manifestations improving the misdiagnosis of LS.
Mohsen Akhavan Sepahi, Mohammad Reza Razavi   +1 more
openaire   +1 more source