Results 51 to 60 of about 3,403 (162)

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China

Frontiers in Genetics
BackgroundAlport syndrome (AS) is an inherited disorder affecting basement membrane collagen IV. AS is characterized by hematuria and progressive renal failure, accompanied by high-frequency sensorineural deafness and ocular changes.
Cong Zhou, Cong Zhou, Yuanyuan Xiao, Yuanyuan Xiao, Xing Wei, Xing Wei, Jing Wang, Jing Wang, Shanling Liu, Shanling Liu   +9 more
doaj   +1 more source

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

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, Volume 15, Issue 27, 17 July 2026.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +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

Metabolic Dysfunction‐Associated Fatty Liver Disease: From Pathogenesis to Treatment

MedComm, Volume 7, Issue 7, July 2026.
Extracellular vesicles play a crucial role in interorgan crosstalk of adipose–liver and gut–liver axes and hold potential as therapeutic targets and drug delivery systems for metabolic dysfunction‐associated fatty liver disease (MAFLD). Abbreviations: AT: adipose tissue; EVs: extracellular vesicles; HL: healthy liver; NAFL: nonalcoholic fatty liver ...
Zhifu Cui, Xiaxia Du, Felix Kwame Amevor, Yaoyao Xia, You Yang, Lingbin Liu   +5 more
wiley   +1 more source

Familial hematuria: A review

Medicina, 2017
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations.
Pavlína Plevová, Josef Gut, Jan Janda
doaj   +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

A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome

Revista de Nefrología, Diálisis y Trasplante, 2019
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities.
Sibel Ersan, Ozgur Kirbiyik, Turker Sarikaya, Merve Saka Guvenc, Tugba Karadeniz   +4 more
doaj  

Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers

Egyptian Journal of Medical Human Genetics, 2023
Background Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic kidney disease, affecting at least one in 5000 individuals worldwide. AS is caused by COL4A3, COL4A4, and COL4A5 mutations.
Ibrahim Sahin, Nefise Kandemir, Hanife Saat   +2 more
doaj   +1 more source

Fertilization influences overyielding through dominance of species with high specific leaf area in young tree mixtures

Functional Ecology, Volume 40, Issue 6, Page 1755-1775, June 2026.
Read the free Plain Language Summary for this article on the Journal blog. Abstract In the context of anthropogenic eutrophication of the biosphere, understanding the impact of nutrient addition on plant diversity–productivity relationships remains a major challenge.
Dai F. Saito, Friderike Beyer, Grégoire T. Freschet, Anja Klingler, Charles A. Nock, Peter B. Reich, Michael Scherer‐Lorenzen, Jürgen Bauhus   +7 more
wiley   +1 more source