Results 41 to 50 of about 2,525,206 (182)

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin [PDF]

, 1999
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.BackgroundThe COL4A3-COL4A4-COL4A5 network in the glomerular basement membrane is affected in the inherited renal disorder Alport's syndrome (AS).
Van Der Loop, Frank T.L., Lemmink, Henny H., Smeets, Hubert J.M., Monnens, Leo A.H., Breuning, Martijn H., Schröder, Cornelis H., Timmer, Erika D.J.   +6 more
core   +1 more source

Structure of the human type IV collagen COL4A5 gene.

Journal of Biological Chemistry, 1994
The complete exon size and distribution pattern of the human alpha 5(IV) collagen gene COL4A5 has been determined. Seventeen genomic lambda phage clones, eight of which have been described previously (Zhou, J., Hostikka, S.L., Chow, L.T., and Tryggvason, K. (1991) Genomics 9, 1-9), spanning about 160 kilobases of DNA contained 140 kilobases of the gene
J, Zhou, A, Leinonen, K, Tryggvason
openaire   +2 more sources

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Molecular Genetics & Genomic Medicine, 2021
Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and ...
Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe   +13 more
doaj   +1 more source

In Situ Bioorthogonal Synthesis of PROTACs via Dual‐Responsive Cleavage for Synergistic Photo‐Immunotherapy

Advanced Science, EarlyView.
A bioactive self‐delivering SNAP‐TAC platform responds to tumor‐associated cathepsin B and glutathione, enabling in situ bioorthogonal synthesis of a BRD4‐degrading proteolysis‐targeting chimera within the tumor microenvironment. The resulting BRD4 degradation and PD‐L1 downregulation synergize with photodynamic therapy‐induced immunogenic cell death ...
Shiqin Jian, Jiasha Wu, Fusheng Xu, Yan Zuo, Huaxing Shen, Rui Ji, Luyi Wang, Na Li, Yanting Sun, Yongsheng Yu, Yejiao Shi, Honggang Hu, Feng Xu, Dan Huang, Xiaochun Hu   +14 more
wiley   +1 more source

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

BMC Nephrology, 2021
Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes.
Jing Wu, Jun Zhang, Li Liu, Bo Zhang, Tomohiko Yamamura, Kandai Nozu, Masafumi Matsuo, Jinghong Zhao   +7 more
doaj   +1 more source

Brain metastasis‐associated fibroblasts shape the tumour microenvironment to enhance cancer cell invasion

Brain Pathology, EarlyView.
Brain metastasis‐associated fibroblasts are active stromal components of the metastatic niche characterised by extracellular matrix remodelling and production of pro‐migratory mediators. They promote monocyte and cancer cell migration and enhance cancer cell invasion while having no growth‐promoting effect on cancer cells.
Barbora Výmolová, Lucie Pfeiferová, Tadeáš Karel Smetana, Petr Výmola, Nikola Ternerová, Michal Zubaľ, Michal Kolář, Jana Šáchová, Soňa Gyönyörová, Eva Balážiová, Magdalena Houdová Megová, Jakub Červenka, Helena Kupcová Skalníková, Michal Španko, Karel Smetana Jr., Lukáš Lacina, David Netuka, Robert Tomáš, Petr Bušek, Aleksi Šedo   +19 more
wiley   +1 more source

Neurotrophic extracellular matrix proteins promote neuronal and iPSC astrocyte progenitor cell‐ and nano‐scale process extension for neural repair applications

Journal of Anatomy, Volume 246, Issue 4, Page 585-601, April 2025.
The extracellular matrix plays a critical role in modulating cell behaviour in the central nervous system influencing neural cell morphology and growth. However, a better understanding of the impact of individual matrix proteins on both neurons and astrocytes is critical for advancing the development of matrix‐based neural repair strategies.
Cian O'Connor, Rena E. Mullally, Sarah F. McComish, Julia O'Sullivan, Ian Woods, Ingmar Schoen, Massimiliano Garre, Maeve A. Caldwell, Adrian Dervan, Fergal J. O'Brien   +9 more
wiley   +1 more source

Identification of Four Novel Mutations in the COL4A5 Gene of Patients with Alport Syndrome

Genomics, 1993
The type IV collagen alpha 5 chain (COL4A5) genes of patients with Alport syndrome were tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA clones as probes. In addition, individual exons were screened for small mutations by single-strand conformation polymorphism (SSCP) analysis. Four new COL4A5 mutations were detected. A
Henny H. Lemmink, Cornelis H. Schröder, Han G. Brunner, Marcel R. Nelen, Jing Zhou, Karl Tryggvason, Willy A.G. Haagsma-Schouten, Antony P. Roodvoets, Wolfgang Rascher, Bernard A. van Oost, Hubert J.M. Smeets   +10 more
openaire   +2 more sources

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

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice

Molecular Medicine
X-linked Alport syndrome (XLAS) caused by X-linked COL4A5 gene mutation is a hereditary disease that affects mainly the kidney. XLAS patients, especially males whose single copy of the COL4A5 gene is disrupted, suffer from a life-threatening renal ...
Yantao Bao, Weiqing Wu, Jiyun Lin, Yuankai Yang, Sheng Lin, Jindi Su, Yueyuan Qin, Baojiang Wang, Shan Duan   +8 more
doaj   +1 more source