Results 61 to 70 of about 6,344 (210)

Senior-Loken Syndrome with Rare Manifestations: A Case Report

Eurasian Journal of Medicine, 2019
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability ...
Harikrishan K. Aggarwal, Deepak Jain, Sachin Yadav, Vipin Kaverappa, Abhishek Gupta   +4 more
doaj   +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

A questionnaire survey of radiological diagnosis and management of renal dysplasia in children [PDF]

, 2018
Background: The condition called renal dysplasia is considered to be a frequent cause of chronic kidney disease in children. Formally, it is defined by histological parameters.
Busutti, Marco, European Society for Paediatric Nephrology Working Group on Congenital Anomalies of the Kidney and Urinary Tract, on behalf of the, Montini, Giovanni, Raes, Ann, Weber, Stefanie, Woolf, Adrian S, Yalcinkaya, Fatos   +6 more
core   +1 more source

Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]

, 2016
Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar, Alfinito, Avasthi, Bachmann-Gagescu, Baker, Beech, Brockerhoff, Cao, Deacon, Eblimit, Goetz, Huang, Insinna, Insinna, Insinna, Jiang, Jimeno, Jimeno, Kodani, Krock, Lopes, Louie, Makhankov, Marszalek, Marszalek, Muresan, Muresan, Nascimento, Nonaka, Pazour, Ryan, Scholey, Shu, Stearns, Sukumaran, Traverso, Trivedi, Tsujikawa, Tuma, Westerfield, Whitehead, Wolfrum, Yamazaki, Yang, Zhao   +44 more
core   +2 more sources

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

Caenorhabditis nomenclature [PDF]

, 2018
Genetic nomenclature allows the genetic features of an organism to be structured and described in a uniform and systematicway. Genetic features, including genes, variations (both natural and induced), and gene products, are assigned descriptorsthat ...
Daul, Aric, Schedl, Tim, Tuli, Mary Ann
core   +2 more sources

SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. [PDF]

PLoS ONE, 2015
Glis2/NPHP7 is a transcriptional regulator mutated in type 7 nephronophthisis, an autosomal recessive ciliopathy associated with cystic and fibrotic kidney disease as well as characteristic extrarenal manifestations.
Haribaskar Ramachandran, Konstantin Herfurth, Rudolf Grosschedl, Tobias Schäfer, Gerd Walz   +4 more
doaj   +1 more source

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

Molecular Genetics & Genomic Medicine
Background Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation ...
Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang   +6 more
doaj   +1 more source