Results 41 to 50 of about 4,587 (195)

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

Frontiers in Pediatrics, 2018
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults.
Shalabh Srivastava, Shalabh Srivastava, Elisa Molinari, Shreya Raman, John A. Sayer, John A. Sayer   +5 more
doaj   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Frontiers in Pediatrics, 2018
Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation. Therapeutics to significantly delay or prevent end-stage renal disease (ESRD) in children are currently
Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers   +7 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +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

Senior- Loken Syndrome – A Ciliopathy [PDF]

Journal of Clinical and Diagnostic Research, 2014
Senior – Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto – retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of ...
Hemachandar R
doaj   +1 more source

Mechanisms of Nephronophthisis and Related Ciliopathies

, 2010
An emerging group of human genetic diseases termed ‘ciliopathies’ are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium.
Toby W. Hurd, Friedhelm Hildebrandt
core   +1 more source

Opportunities for renal genetic evaluation among pregnant patients with kidney disease

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Objective Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with
Likhita Nandigam, Christian M. Parobek, Taylor Moseley, Ansley E. Davis, Stacie G. Denning, Mir Reza, Sai K. Saridey, Hennie A. Lombaard   +7 more
wiley   +1 more source