Results 51 to 60 of about 3,450 (166)

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

Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This bibliometric analysis outlines global research trends, collaborations, and hotspots of Alport syndrome, offering references for future basic research and clinical management. ABSTRACT Background Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing ...
Xiujuan Cao, Wei Zhou, Yong Wang, Lvxian Wu, Jianhua Mao   +4 more
wiley   +1 more source

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation

Biochemistry and Biophysics Reports, 2019
Alport syndrome (AS) is an inherited disorder characterized by glomerular basement membrane (GBM) abnormality and development of chronic kidney disease at an early age.
Kentarou Hashikami, Makoto Asahina, Kandai Nozu, Kazumoto Iijima, Michio Nagata, Michiyasu Takeyama   +5 more
doaj   +1 more source

Identification of a single base insertion in the COL4A5 gene in Alport syndrome

Kidney International, 1993
We identified a novel mutation in the COL4A5 gene of a Japanese patient with Alport syndrome. A combination of in vitro amplification of the exons with single strand conformation polymorphisms (SSCP) analysis suggested the presence of a mutation in exon 48.
Nakazato, Hitoshi, Hattori, Shinzaburo, Matsuura, Toshinobu, Koitabashi, Yasushi, Endo, Fumio, Matsuda, Ichiro   +5 more
openaire   +2 more sources

Proteolysis at the extracellular matrix interface: Molecular architects and regulators in health and disease

The FEBS Journal, Volume 293, Issue 13, Page 3758-3787, July 2026.
The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka, Matija Hrovatin, Bor Bokalj, Boris Turk   +3 more
wiley   +1 more source

Sensing and Communicating β‐Cell Stress in the Context of T1D Etiology: New Opportunities for Therapeutic Impact

Comprehensive Physiology, Volume 16, Issue 3, June 2026.
Type 1 diabetes (T1D) results from the immune‐mediated destruction of insulin‐producing pancreatic β‐cells. Recent human studies show that early β‐cell stress maladaptations precede overt immune cell infiltration. DOC2B, a vesicle secretion regulatory protein that supports β‐cell functionality and resilience against stress, declines early in T1D ...
Diana Esparza, Chathurani S. Jayasena, Tijana Jovanovic‐Talisman, Debbie C. Thurmond   +3 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene

Stem Cell Research, 2020
X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c.
Lei Sun, Jing Zhang, Xin-yu Kuang, Yu-lin Kang, Ying Wu, Wen-yan Huang   +5 more
doaj   +1 more source

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome

Frontiers in Medicine, 2022
Introduction:Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations.
Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene   +14 more
doaj   +1 more source

Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY [PDF]

Molecular Genetics & Genomic Medicine, 2014
Mutation-induced activation of splice sites in intronic repetitive sequences has contributed significantly to the evolution of exon-intron structure and genetic disease. Such events have been associated with mutations within transposable elements, most frequently in mutation hot-spots of Alus.
Nozu, Kandai, Iijima, Kazumoto, Ohtsuka, Yasufumi, Fu, Xue Jun, Kaito, Hiroshi, Nakanishi, Koichi, Vorechovsky, Igor   +6 more
openaire   +4 more sources

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

Molecular Genetics & Genomic Medicine, 2019
Background Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR ...
Xuechao Zhao, Chen Chen, Yanfu Wei, Ganye Zhao, Lina Liu, Conghui Wang, Junjun Zhang, Xiangdong Kong   +7 more
doaj   +1 more source