Results 11 to 20 of about 5,140 (191)

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   +2 more sources

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. [PDF]

PLoS Genetics, 2014
We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis.
Gisela G Slaats, Amiya K Ghosh, Lucas L Falke, Stéphanie Le Corre, Indra A Shaltiel, Glenn van de Hoek, Timothy D Klasson, Marijn F Stokman, Ive Logister, Marianne C Verhaar, Roel Goldschmeding, Tri Q Nguyen, Iain A Drummond, Friedhelm Hildebrandt, Rachel H Giles   +14 more
doaj   +3 more sources

Evidence of oligogenic inheritance in nephronophthisis [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life. Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for ...
John F. O’Toole, Attanasio, Massimo, O'Toole, John F, Hoefele, Julia, Wolf, Matthias T F, Edgar A. Otto, Georges De[Combining Circumflex Accent]schenes, Hildebrandt, Friedhelm, Boris Utsch, Julia Hoefele, Matthias T.F. Wolf, Utsch, Boris, Schultheiss, Ulla, Friedhelm Hildebrandt, Massimo Attanasio, Ulla Schultheiss, Antignac, Corinne, Dêschenes, Georges, Otto, Edgar A, Corinne Antignac, O'Toole, John F   +20 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] [PDF]

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   +4 more sources

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   +2 more sources

Nephronophthisis and medullary cystic kidney disease complex [PDF]

Vojnosanitetski Pregled, 2005
Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana, Hrvačević Rajko, Paunić Zoran, Petrović Stanko   +3 more
doaj   +3 more sources

Nephronophthisis

, 2018
Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile
John A. Sayer, Roslyn J. Simms
core   +2 more sources

Joubert syndrome with nephronophthisis in neurofibromatosis type 1

Saudi Journal of Kidney Diseases and Transplantation, 2011
Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation.
Javed Ahmed, Uma S Ali
doaj   +1 more source

Nephronophthisis [PDF]

Pediatric Nephrology, 2008
Abstract Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick   +2 more
  +9 more sources

Nephronophthisis: A Genetically Diverse Ciliopathy [PDF]

International Journal of Nephrology, 2011
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer   +3 more
doaj   +2 more sources