Results 31 to 40 of about 4,587 (195)

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

The role of centrosome distal appendage proteins (DAPs) in nephronophthisis and ciliogenesis [PDF]

, 2021
The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways.
Schmidt-Ott, K.M., Kai M. Schmidt-Ott, Markus Schueler, Schueler, M., Iman B. Shaheed, Fatma Mansour, Mansour, F., Boivin, F.J., Shaheed, I.B., Felix J. Boivin   +9 more
core   +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

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

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G., Mathew I Bellgard, Roberto A Barrero, Morahan, G, McCooke, J.K., Bellgard, MI, Jacqueline K Phillips, Ding, A., John K McCooke, Appels, R, Grant Morahan, Phillips, J.K., Justyna E Ozimek-Kulik, Phillips, JK, Bellgard, M.I., Barrero, RA, McCooke, JK, Appels, R., Barrero, R.A., Ozimek-Kulik, J.E., Rudi Appels, Alice Ding, Ozimek-Kulik, JE, Ding, A   +23 more
core   +1 more source

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Scientific Reports, 2023
Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior–Løken ...
Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis   +8 more
doaj   +1 more source

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Human Genomics, 2022
Background Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function.
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou   +6 more
doaj   +1 more source

Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome

Renal Replacement Therapy, 2020
Background Senior–Løken syndrome (SLS) and Bardet–Biedl syndrome (BBS) are ciliopathies. SLS is characterized by retinitis pigmentosa (RP) and familial nephronophthisis, leading to end-stage kidney disease, while BBS is characterized by six major ...
Yuko Fujii, Hideki Matsumura, Akihiko Shirasu, Hyogo Nakakura, Satoshi Yamazaki, Naoya Morisada, Kazumoto Iijima, Akira Ashida   +7 more
doaj   +1 more source