Results 51 to 60 of about 1,281 (185)

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

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

Phosphoinositides and engulfment [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108686/1/cmi12334 ...
Swanson, Joel A.
core   +1 more source

INPP5E Preserves Genomic Stability through Regulation of Mitosis [PDF]

, 2017
The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM
Cerabona, D, Gayral, S, Gehlhausen, J, He, Y, Nalepa, G, Sater, ZA, Schurmans, Stéphane, Sierra Potchanant, EA, Sun, Z   +8 more
core   +2 more sources

Inositol polyphosphate 5‐phosphatases; new players in the regulation of cilia and ciliopathies

FEBS Letters, Volume 586, Issue 18, Page 2846-2857, August 31, 2012., 2012
Phosphoinositides regulate numerous cellular events via the recruitment and activation of multiple lipid‐binding effector proteins. The precise temporal and spatial regulation of phosphoinositide signals by the co‐ordinated activities of phosphoinositide kinases and phosphatases is essential for homeostasis and development.
Sarah E. Conduit, Jennifer M. Dyson, Christina A. Mitchell   +2 more
wiley   +1 more source

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +1 more source

Diversified Carbohydrate‐Binding Lectins from Marine Resources

Journal of Amino Acids, Volume 2011, Issue 1, 2011., 2011
Marine bioresources produce a great variety of specific and potent bioactive molecules including natural organic compounds such as fatty acids, polysaccharides, polyether, peptides, proteins, and enzymes. Lectins are also one of the promising candidates for useful therapeutic agents because they can recognize the specific carbohydrate structures such ...
Tomohisa Ogawa, Mizuki Watanabe, Takako Naganuma, Koji Muramoto, Faouzi Ben Rebah   +4 more
wiley   +1 more source

Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome

Pediatria Polska
Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys.
Adam Jan Strzoda, Aleksandra Sobieszczańska-Droździel, Magdalena Kamińska   +2 more
doaj   +1 more source

Syntaxin 16 is a master recruitment factor for cytokinesis [PDF]

, 2013
Recently it was shown that both recycling endosome and endosomal sorting complex required for transport (ESCRT) components are required for cytokinesis, in which they are believed to act in a sequential manner to bring about secondary ingression and ...
Alexandra Kaupisch, Barr FA, Bastos RN, Bissig C, Blum R, Carlton J, Carlton JG, Carr CM, Chen X.-W., Chesneau L, Choudhury A, Dambournet D, Dulubova I, Elia N, Fededa JP, Fielding AB, Fielding AB, Francis A. Barr, Glotzer M, Goss JW, Gromley A, Guizetti J, Gwyn W. Gould, Hong W, Hélia Neto, Jung JJ, Lee HH, Louise L. Collins, Low SH, Manickam V, Mondal G, Munson M, Neto H, Prekeris R, Proctor KM, Rannou Y, Riggs KA, Scales SJ, Schiel JA, Schiel JA, Schiel JA, Schiel JA, Simon GC, Simonsen A, Struthers MS, Tellam JT, TerBush DR, Xu H, Zhang XM   +48 more
core   +2 more sources

Complex and Multidimensional Lipid Raft Alterations in a Murine Model of Alzheimer′s Disease

International Journal of Alzheimer’s Disease, Volume 2010, Issue 1, 2010., 2010
Various animal models of Alzheimer′s disease (AD) have been created to assist our appreciation of AD pathophysiology, as well as aid development of novel therapeutic strategies. Despite the discovery of mutated proteins that predict the development of AD, there are likely to be many other proteins also involved in this disorder.
Wayne Chadwick, Randall Brenneman, Bronwen Martin, Stuart Maudsley, Gemma Casadesus   +4 more
wiley   +1 more source