Results 61 to 70 of about 5,140 (191)

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

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
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

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

, 2002
Nephronophthisis, the most common genetic cause of chronic renal failure in children, is a progressive tubulo-interstitial kidney disorder that is inherited as an autosomal recessive trait. The disease is characterized by polyuria, growth retardation and
Silbermann, F, Delphine Bacq, Milford, D, Olivier Gribouval, Flora Silbermann, Rizzoni, G, Géraldine Mollet, David Milford, Gianfranco Rizzoni, Mollet, G, Gribouval, O, Bacq, D, Ahmet Nayir, Landthaler, G, Nayir, A, Sophie Saunier, Rémi Salomon, Saunier, S, Gilbert Landthaler, Salomon, R, Antignac, C, Corinne Antignac   +21 more
core   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

, 2011
Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts.
Susan J. Allen, Hoefele, Julia, Edgar A. Otto, Imm, Anita, Hildebrandt, Friedhelm, Julia Hoefele, Ahmet Nayir, Chaki, Moumita, Friedhelm Hildebrandt, Allen, Susan J., Moumita Chaki, Anita Imm, Nayir, Ahmet, Otto, Edgar A.   +13 more
core   +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

Nephronophthisis

Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure.
Sayer JA, Eley L, Simms RJ
core   +4 more sources

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

Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management

Biomolecules
Senior–Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cilium, primarily affecting the kidneys (typically leading to nephronophthisis) and eyes (typically leading to retinal degeneration ...
Di Zhou, Yi Zeng, Weihan Luo, Chenyang Leng, Chen Li   +4 more
doaj   +1 more source

Australian Standards of Care for Genetic and Genomic Testing in Kidney Disease, Chapter 4

Internal Medicine Journal, Volume 56, Issue S5, Page 15-17, November 2026.
Sadia Jahan, Julia Jefferis, Jacqueline Soraru, Chirag Patel, Erik Biros, Trudie Harris, Kushani Jayasinghe, Amali Mallawaarachchi, Zornitza Stark, Andrew J. Mallett, on behalf of the KidGen Guidelines Working Group   +10 more
wiley   +1 more source

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants

Disease Models & Mechanisms, 2022
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant   +15 more
doaj   +1 more source