Results 31 to 40 of about 6,344 (210)

Ciliary Genes in Renal Cystic Diseases

Cells, 2020
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska   +1 more
doaj   +1 more source

A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

Molecular Genetics & Genomic Medicine, 2022
Background Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic
Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang   +6 more
doaj   +1 more source

Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

Molecular Genetics & Genomic Medicine, 2021
Background Senior–Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end‐stage renal disease and progressive blindness.
Ke Ning, Emilie Song, Brent E. Sendayen, Philipp P. Prosseda, Kun‐Che Chang, Alireza Ghaffarieh, Jorge A. Alvarado, Biao Wang, Kathryn M. Haider, Nicolas F. Berbari, Yang Hu, Yang Sun   +11 more
doaj   +1 more source

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram, Derveaux, Stefaan, Dong, Wes, Dunne, Jude, Hellemans, Jan, Husain, Syed, Lefever, Steve, Vandesompele, Jo   +7 more
core   +2 more sources

Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
doaj   +1 more source

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P, Coussa, R G, Faingold, R, Fu, Q, Gee, H‐y, Hildebrandt, F, Keser, V, Khan, A, Koenekoop, R K, Lopez, I, Majewski, J, Otto, E A, Ren, H, Schwartzentruber, J   +13 more
core   +1 more source

Cystic kidney diseases: many ways to form a cyst [PDF]

, 2012
Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
core   +1 more source

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations [PDF]

, 2012
Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of ...
Amack, J.D., Belmont, J.W., Bertoli-Avella, A.M., Breedveld, G., Devriendt, K., French, V.M., Frohn-Mulder, I.M.E., Graaf, B.M. de, Graaff, E. de, Helbing, W.A., Jadot, E., Jiang, Z.X., Laar, I.M.B.H. van de, Meijers-Heijboer, E.J., Mientjes, E., Najmabadi, H., Oostra, B.A., Rahimi, Z., Rohe, C., Roos-Hesselink, J.W., Schot, R., Severijnen, L.A., Swagemakers, S., Tienhoven, M. van, Venselaar, H., Verkerk, A., Wang, G.L., Wessels, M.W., Willemsen, R.   +28 more
core   +10 more sources

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

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   +1 more source