Results 41 to 50 of about 4,891 (195)

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic VariantsPlain-Language Summary

Kidney Medicine, 2021
Rationale & Objective: Pathogenic variants in type IV collagen have been reported to account for a significant proportion of chronic kidney disease.
Cole Shulman, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich, Michelle Hladunewich, York Pei, Judy Savige, Andrew D. Paterson, Mary Ann Suico, Hirofumi Kai, Moumita Barua   +13 more
doaj   +1 more source

A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series

Frontiers in Medicine, 2023
Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes.
Tinatin Tkemaladze, Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Elene Abzianidze, Tinatin Davitaia   +5 more
doaj   +1 more source

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

PLoS ONE, 2014
Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN).
Louiza Papazachariou, Panayiota Demosthenous, Myrtani Pieri, Gregory Papagregoriou, Isavella Savva, Christoforos Stavrou, Michael Zavros, Yiannis Athanasiou, Kyriakos Ioannou, Charalambos Patsias, Alexia Panagides, Costas Potamitis, Kyproula Demetriou, Marios Prikis, Michael Hadjigavriel, Maria Kkolou, Panayiota Loukaidou, Androulla Pastelli, Aristos Michael, Akis Lazarou, Maria Arsali, Loukas Damianou, Ioanna Goutziamani, Andreas Soloukides, Lakis Yioukas, Avraam Elia, Ioanna Zouvani, Polycarpos Polycarpou, Alkis Pierides, Konstantinos Voskarides, Constantinos Deltas   +30 more
doaj   +1 more source

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. [PDF]

PLoS ONE, 2017
Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal ...
Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà   +8 more
doaj   +1 more source

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing

Scientific Reports, 2021
Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing.
Xiaoyuan Wang, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source

The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience

Frontiers in Medicine, 2022
Disease-causing variants in COL4A3-5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autosomal, X-linked ...
Jasmina Ćomić, Jasmina Ćomić, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Roman Günthner, Christian W. Schaaf, Christian W. Schaaf, Patrick Richthammer, Hannes Simmendinger, Donald Kieffer, Riccardo Berutti, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajic, Adrian Lungu, Oliver Gross, Lutz Renders, Uwe Heemann, Matthias C. Braunisch, Thomas Meitinger, Julia Hoefele   +22 more
doaj   +1 more source

Dynamic Loading Regulates Meniscus‐Like Matrix Production in Human Mesenchymal Stromal Cell‐Seeded PET Scaffolds

Advanced Healthcare Materials, EarlyView.
Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira, Luisa de Roy, Anna‐Lotta Feldmeier, Mubashir Ahmad, Sofia Pilão, Maria Ahrens, Anita Ignatius, Carsten Linti, Andreas Martin Seitz   +8 more
wiley   +1 more source

A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

, 2013
Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15%
TOKGÖZ, Bülent, Uzak, Asli Subasioglu, DÜNDAR, Munis, Tekin, Mustafa   +3 more
core   +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

Effects of mycophenolate mofetil on kidney function and phosphorylation status of renal proteins in Alport COL4A3-deficient mice [PDF]

, 2014
Background: We investigated the effects of mycophenolate mofetil (MMF) on kidney function and on protein phosphorylation in a mouse model for the human Alport syndrome.
Frank Christian Schultze, Walson, Philip D., Henning Urlaub, Philip D Walson, Schultze, F., Lenz, Christof, Brandhorst, Gunnar, Urlaub, Henning, Gunnar Brandhorst, Lenz, C., Darinka Todorova Petrova, Petrova, D., Oliver Gross, Brandhorst, G., Michael Oellerich, Klaus-Dieter Luchs, Diana Rubel, Gross, Oliver, Christof Lenz, Gross, O., Urlaub, H., Oellerich, M., Luchs, Klaus-Dieter, Rubel, Diana, Schultze, Frank Christian, Oellerich, Michael, Rubel, D., Luchs, K., Walson, P., Petrova, Darinka Todorova   +29 more
core   +1 more source