Results 51 to 60 of about 4,891 (195)

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

Frontiers in Genetics, 2022
Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only ...
Yanglin Hu, Wei Li, Lulu Tian, Shuai Fu, Yonglong Min, Jia Liu, Fei Xiong   +6 more
doaj   +1 more source

Clinical Efficacy and Mechanisms of ZiyuShuang, an Anti‐Skin Aging Formula Identified Through Network Medicine Framework Analysis

Journal of Cosmetic Dermatology, Volume 25, Issue 10, October 2026.
ABSTRACT Background Skin aging, a key aspect of physiological decline, markedly affects appearance, making strategies to delay it vital for quality of life. Materials and Methods We applied network medicine analysis to screen herbal medicines from the TCMSP database, yielding an anti‐skin aging formula, ZiYuShuang (ZYS).
Yingpeng Tong, Xiangmei Ni, Xinnan Jiang, Ru Zhang, Pengcheng Guo, Chunbo Feng, Jianxin Wang   +6 more
wiley   +1 more source

A COL4A3 gene mutation and post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome [PDF]

, 1995
A COL4A3 gene mutation and post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome. The X-linked Alport syndrome is associated with mutations and deletions in COL4A5 gene, one of six genes which constitute the α-chains of type IV collagen ...
van den Heuvel, L.P., Lemmink, H.H., Kalluri, R., Kalluri, Raghu, Neilson, E.G., Neilson, Eric G., Boutaud, Ariel, Smeets, H.J.M., Hudson, Billy G., Boutaud, A., Hudson, B.G., Heuvel, L.P. van den, Schroder, C.H.   +12 more
core   +2 more sources

Chamber‐Specific Decellularized Extracellular Matrices Differentially Modulate Cardiomyocyte Subtypes to Drive Engineered Heart Tissue Development and Function

Advanced Healthcare Materials, Volume 15, Issue 30, 14 August 2026.
Chamber‐specific decellularized extracellular matrices (ECMs) were developed, preserving native proteomic profiles of ventricular and atrial myocardium. These innate biochemical cues differentially modulate cardiomyocyte subtypes to drive engineered heart tissue development and function, highlighting the importance of incorporating regional ECM cues in
Dong Gyu Hwang, Myungji Kim, Hwanyong Choi, Jinseon Park, Minji Kim, Donghwan Kim, Bo Ram Lee, Jinah Jang   +7 more
wiley   +1 more source

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. [PDF]

, 2014
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation.
Malone, Andrew F, Webb, Nicholas J A, Winn, Michelle P., Shaw, Andrey S, Homstad, Alison, Alonso, Andrea S., Cetincelik, Umran, Lindsey, Thomas B, Alonso, Andrea S, Conlon, Peter J, Jennette, J Charles, Phelan, Paul J, Sparks, Matthew A, Jiang, Ruiji, Webb, Nicholas JA, Adeyemo, Adebowale A., Gbadegesin, Rasheed A, Winn, Michelle P, Webb, Nicholas J.A., Kalra, Philip A, Howell, David N, Hall, Gentzon, Charles Jennette, J., Smith, Stephen R, Smith, Stephen R., Malone, Andrew F., Conlon, Peter J., Adeyemo, Adebowale A, Sparks, Matthew A., Gbadegesin, Rasheed A., Lindsey, Thomas B., Phelan, Paul J., Kalra, Philip A., Howell, David N., Wu, Guanghong, Shaw, Andrey S.   +35 more
core   +1 more source

COL4A3 is differentially expressed in the lymph nodes of patients with metastatic breast cancer.

, 2021
Metastasis to the brain is a clinical problem in patients with breast cancer (1-3). Between the breast and the brain reside the secondary lymphoid organ, the lymph nodes. We mined published microarray data (4, 5) to compare primary and metastatic tumor
Shahan Mamoor
core   +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

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome [PDF]

Journal of the American Society of Nephrology, 2013
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by
Helen, Storey, Judy, Savige, Vanessa, Sivakumar, Stephen, Abbs, Frances A, Flinter   +4 more
openaire   +2 more sources

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

Frontiers in Medicine, 2023
IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney disease ...
Pavlina Plevova, Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova   +24 more
doaj   +1 more source