Results 31 to 40 of about 5,140 (191)

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

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy [PDF]

, 2010
Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS).
S. Janssen, Kayserili, H., Fuchs, S., Drozdz, D., Ramazwami, Gokul, Bambauer, R., T. W. Hurd, Mills, B., Holmberg, E., T. J. Neuhaus, Bendel-Stenzel, M., Omran, H., Lüttgen, S., R. Airik, Pogan, A., S. Saunier, Otto, Edgar A., Fründ, S., Gellermann, J., Höpfner, J., Leichter, H. E., Stover, N., Wingen, A. M., D. V. Milford, Allen, Susan J, Peters, H., Milford, David V., Franke, I., A. K. Ghosh, Neuhaus, Thomas J, Ghosh, Amiya K., Drube, J., Andreoli, S., D. Bockenhauer, Eccles, M., Ounap, K., null null, Nayir, A., KAYSERİLİ, HÜLYA, Lock Hock, N., Ronda, T., Holder, M., Zhou, Weibin, Bockenhauer, Detlef, Sanwald, R., Johnson, Colin A, Ozturk, S., Hurd, Toby W., Dixon, J. W., Jeck, N., Kiepe, D., Wolf, Matthias T., Pehlivan, D., Bonzel, K. E., Weidner, B., Neumann, L., Jones, C., Wittwer, B., Stapenhorst, .., Allen, Susan J., Gal, A., Ramaswami, Gokul, Hoffmann, J. F., Sandford, R., Mall, M., Bitzan, M., Michalk, D., Kerr, B., Chaki, Moumita, Debeukelaer, M., Milford, David V, GPN Study Group, Hurd, Toby W, Erler, T., Peco-Antic, A., Müller-Wiefel, D. E., Neuhaus, Thomas J., Janecke, A., Koyun, M., Trnka,Peter, Whittaker, J., S. J. Allen, Zerres, K., Rieger, S., Trnka, P., Cadnapaphornchai, M., N. A. Soliman, Kozma, C., Schürmann, M. J., Raymond, F. L., Klüte, R., Besbas, N., G. Ramaswami, C. Antignac, C. A. Johnson, Airik, Rannar, M. T. Wolf, Stojanovic, V., Stolpe, H. J., Wolff, G., Frye, B., F. Hildebrandt, ?, ?, Soliman, Neveen A, Schonberg, R., Weber, M., Otto, Edgar A, Milosevic, B., Dippell, J., Soliman, Neveen A., Hildebrandt, Friedhelm, E. A. Otto, Chow, J., Baynam, G., Münch, A., Strehlau, J., Greiner, A., Kuwertz-Broeking, E., Bergmann, C., Hoppe, Bernd, Ehrich, J. H., Roos, R., Sunder-Plassmann, G., Kern, I., W. Zhou, Hashmi, S., B. Hoppe, Afroze, B., Harms, E., Axwijk, P. H., Edwards, C., Ozaltin, F., Beck, B., Saunier, Sophie, Farrington, R., Hidalgo, G., Wolf, Matthias T, Johnson, Colin A., Tönshoff, B., Bulla, M., Weleber, R., Kirschner, J., Kneppo, C., Devriendt, K., Apostolou, T., Ghosh, Amiya K, Korinthenberg, R., M. Chaki, Janssen, Sabine, Heckel, M., Antignac, Corinne, Knoers, N., Josefiak, K., van Husen, M.   +153 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

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

Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the

Stem Cell Research
Nephronophthisis, an autosomal recessive ciliopathy, is a rare genetic kidney disorder characterized by progressive tubulointerstitial fibrosis, corticomedullary cyst formation, and progression to end-stage renal disease.
Jeeyoung Yoon, Yoo Jin Shin, Hanbi Lee, Sun Woo Lim, Ji Hyun Kim, Byung Ha Chung   +5 more
doaj   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +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

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source