Results 61 to 70 of about 4,891 (195)

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

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis [PDF]

Kidney International, 2015
Cited By ...
Constantinou-Deltas, Constantinos D., Pierides, Alkis M., Constantinou-Deltas, Constantinos D., Pierides, Alkis M.   +3 more
openaire   +3 more sources

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation [PDF]

, 2000
Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder, predominantly affecting the type IV collagen alpha 3/alpha 4/alpha 5 network of the glomerular basement membrane (GBM).
Jefferson, J. Ashley, Heidi, L., Schröder, C.H., Leinonen, Anu, Bosch, B. van den, Antignac, C., Van Der Loop, Frank T.L., Maxwell, A. Peter, van der Loop, F T, Smeets, H J, Heidet, Laurence, Leinonen, A., Schröder, Cornelis H., Smeets, H.J.M., Maxwell, A P; id_orcid, Timmer, E D, Monnens, L.A.H., Maxwell, A.P., Timmer, E., Monnens, L A, Smeets, Hubert J.M., Jefferson, A., Van Den Bosch, Bianca J.C., Schröder, C H, van den Bosch, B J, Monnens, Leo A.H., Loop, F. van de, Antignac, Corinne, Leinonen, A, Heidet, L, Antignac, C, Jefferson, J A, Timmer, Erika D.J.   +32 more
core   +1 more source

Kidney diseases related to COL4A3, COL4A4 and COL4A5 gene variations and their pathogenic mechanisms [PDF]

Linchuang erke zazhi
Collagen Ⅳ is the core structural protein of the glomerular basement membrane, composed of α chains encoded by the COL4A3, COL4A4, and COL4A5 genes, which assemble into the α3α4α5 trimer. It plays a crucial role in
LI Haomiao, ZHANG Xiaoyu, HAN Yuan, CHE Ruochen, CHEN Qiuxia, ZHAO Sanlong, DING Guixia
doaj   +1 more source

Transcriptional Response to Chronic Long‐Access Fentanyl Self‐Administration in Rat Habenula and Amygdala

Addiction Biology, Volume 31, Issue 7, July 2026.
Chronic intravenous long‐access fentanyl self‐administration in rats produced transcriptional remodeling in the habenula and amygdala. Bulk RNA‐sequencing identified 453 habenula and 3,041 amygdala differentially expressed genes, revealing upregulation of synaptic process and ionic conductance genes in habenula, upregulation of metabolic and vesicular ...
Robin Magnard, Daianna Gonzalez‐Padilla, Ege A. Yalcinbas, Emma Chaloux‐Pinette, Nicholas J. Eagles, Michael S. Totty, Patricia H. Janak, Leonardo Collado‐Torres, Kristen R. Maynard   +8 more
wiley   +1 more source

Genotype and Outcome After Kidney Transplantation in Alport Syndrome

Kidney International Reports, 2018
Introduction: Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS.
Valentine Gillion, Karin Dahan, Jean-Pierre Cosyns, Pascale Hilbert, Michel Jadoul, Eric Goffin, Nathalie Godefroid, Martine De Meyer, Michel Mourad, Yves Pirson, Nada Kanaan   +10 more
doaj   +1 more source

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

Scientific Reports, 2022
Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions.
Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige   +14 more
doaj   +1 more source

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

The interaction between the glomerular basement membrane and the slit diaphragm in the col4a3+/-/nphs2+/R140Q-animal model

, 2011
Der ungewöhnlich schwere Verlauf einer erblichen Nierenerkrankung in einer österreichischen Familie bei heterozygoter Mutation im col4a5-Gen bei zusätzlichem Polymorphismus des Podocin-Gens nphs2 führte zu der Untersuchung doppelt-heterozygoter col4a3+/-/
Grönemeyer, Lisa-Lena
core   +1 more source

Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease

Journal of Diabetes Investigation, Volume 17, Issue 6, Page 1000-1003, June 2026.
We examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Yosuke Hirakawa, Yuka Sugawara, Masaomi Nangaku   +2 more
wiley   +1 more source