Results 21 to 30 of about 6,344 (210)

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

Frontiers in Pediatrics, 2018
Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood.
Jens Christian König, Andrea Titieni, Martin Konrad, The NEOCYST Consortium, C. Bergmann, M. Cetiner, J. Drube, C. Gimpel, J. Göbel, D. Haffner, T. Illig, N. Klopp, J. König, M. Konrad, M. Lablans, M. C. Liebau, S. Lienkamp, C. Okorn, H. Omran, L. Pape, P. Pennekamp, F. Schaefer, B. Schermer, H. Storf, A. Titieni, F. Ückert, S. Weber, W. Ziegler   +27 more
doaj   +1 more source

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) [PDF]

, 2010
OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and ...
Al-Mateen, M., Bates, D., Chance, P. F., Clericuzio, C., Demir, H., Dobyns, W. B., Doherty, D., Dorschner, M., Finn, L. S., Gahl, W. A., Gentile, M., Glass, I. A., Gorden, N. T., Gunay-Aygun, M., Hikida, A., Knutzen, D., Ozyurek, H., Parisi, M. A., Phelps, I., Rosenthal, P., van Essen, A. J., Verloes, A., Weigand, H.   +22 more
core   +1 more source

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. [PDF]

, 2005
Human nephrocystin is a protein associated with juvenile NPH, an autosomal recessive, inherited kidney disease responsible for chronic renal failure in children.
Antignac, Corinne, Broutin, Isabelle, Dardel, Frédéric, Ducruix, Arnaud, Le Maire, Albane, Saunier, Sophie, Weber, Thomas   +6 more
core   +2 more sources

A family with five siblings affected with nephronophthisis

Saudi Journal of Kidney Diseases and Transplantation, 2014
Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease. These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the
Jumana Albaramki, Kamal Akl, Radi Hamed, Ayman Wahbeh   +3 more
doaj   +1 more source

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 2; referees: 1 approved, 2 approved with reservations]

F1000Research, 2018
Zebrafish are a valuable vertebrate model in which to study development and characterize genes involved in cystic kidney disease. Zebrafish embryos and larvae are transparent, allowing non-invasive imaging during their rapid development, which takes ...
Elisa Molinari, Simon A. Ramsbottom, Veronica Sammut, Frances E. P. Hughes, John A. Sayer   +4 more
doaj   +1 more source

Bilateral Perinephric Pseudocysts in an Owl Monkey. [PDF]

J Med Primatol
ABSTRACT Perinephric pseudocysts consist of variable accumulations of either urine, lymph, or blood in a fibrous sac surrounding one or both kidneys. Perinephric pseudocysts are occasionally reported in cats and humans and very rarely in other species. Here we describe a case of bilateral perinephric pseudocysts in an owl monkey.
Gozalo AS, Lambert LE, Elkins WR.
europepmc   +2 more sources

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]

F1000Research, 2018
Zebrafish are a valuable vertebrate model in which to study development and characterize genes involved in cystic kidney disease. Zebrafish embryos and larvae are transparent, allowing non-invasive imaging during their rapid development, which takes ...
Elisa Molinari, Simon A. Ramsbottom, Veronica Sammut, Frances E. P. Hughes, John A. Sayer   +4 more
doaj   +1 more source

Renal symptoms in the Joubert syndrome [PDF]

, 2009
OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia.
Andrade, Maria Cristina de, Carvalhaes, João Tomás de Abreu, Weiss, Ana Paula   +2 more
core   +4 more sources