Results 71 to 80 of about 8,333 (256)

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

Uromodulin storage diseases: clinical aspects and mechanisms. [PDF]

, 2004
The recent discovery of mutations in the uromodulin gene (UMOD) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportunity for a ...
Agre, Antonio Amoroso, Attar, Auranen, Bachmann, Bates, Bingham, Bingham, Bleyer, Bleyer, Brater, Carson, Chambers, Christodoulou, Ciechanover, Claudia Izzi, Coe, Cox, Dahan, Dahan, Doroti Pirulli, Ellgaard, Emma, Enomoto, Feather, Francesco Scolari, Fukuoka, Gian Marco Ghiggeri, Gianluca Caridi, Giorgio Casari, Gokhale, Gresh, Gusmano, Hart, Hartl, Heptinstall, Hershko, Hession, Hildebrandt, Hildebrandt, Hildebrandt, Hou, Hoyer, Huang, Jovine, Kamatani, Kaufman, Kobayashi, Kotanko, Kroiss, Kudo, Leal-Pinto, Luca Rampoldi, Maesaka, Mattey, Mayrer, McQueen, Melnick, Miyake, Mo, Nauli, Oh, Olbrich, Ong, Orskov, Otto, Otto, Pahl, Pak, Parkkinen, Pennica, Prasadan, Rampoldi, Regina Tardanico, Resnick, Rezende-Lima, Sanders, Schroter, Scolari, Scolari, Serafini-Cessi, Sharp, Simon, Stiburkova, Stiburkova, Su, Taulman, Thomas, Torffvit, Turner, Wang, Wangsiripaisan, Wilson, Wolf, Worcester, Woronik, Wu, Ying, Yoder, Yu, Zager   +100 more
core   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ.

, 2015
Cystic kidney diseases (CKDs) affect millions of people worldwide. The defining pathological features are fluid-filled cysts developing from nephric tubules due to defective flow sensing, cell proliferation and differentiation.
Alexander, R., Alvarado, A., Lakshmanaperumal, N., McClain, M., McKinney, S., Rink, J., Vu, H.   +6 more
core   +1 more source

Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse

bioRxiv, 2022
Background Nephronophthisis (NPHP) is a ciliopathy characterized by renal fibrosis and cyst formation, and accounts for a significant portion of end stage renal disease in children and young adults.
Yuanyuan Li, Wenyan Xu, S. Makova, M. Brueckner, Zhaoxia Sun   +4 more
semanticscholar   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 49-57, January 2026.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 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

Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly

Cytoskeleton, Volume 82, Issue 11, Page 707-718, November 2025.
ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
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

Ciliogenesis and the DNA damage response: A stressful relationship [PDF]

, 2016
Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of ...
Collis, SJ, Johnson, CA
core   +3 more sources