Results 21 to 30 of about 4,891 (195)

The Phenotypic Spectrum of COL4A3 Heterozygotes

Kidney International Reports, 2023
Abstract Most data on Alport Syndrome (AS) due to COL4A3 are limited to families with autosomal recessive AS or severe manifestations such as focal segmental glomerulosclerosis (FSGS). Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we ...
Kaushal V. Solanki, Yirui Hu, Bryn S. Moore, Vida Abedi, Venkatesh Avula, Tooraj Mirshahi, Natasha T. Strande, Ion D. Bucaloiu, Alexander R. Chang   +8 more
openaire   +3 more sources

COL4A3 Degradation Is Increased in Severe, Type 2 Exacerbating Asthmatics [PDF]

C61. ASTHMA: CLINICAL STUDIES, 2020
Introduction: Remodeling of the airway wall is a hallmark feature of asthma. Under physiological conditions, a finely tuned balance maintains a functional state of the extracellular matrix. This balance is disrupted in asthma. COL4A3 is reduced 18-fold in lung tissue from asthmatics, however, the mechanism leading to the diminished levels of COL4A3 has
M Weckmann, T Bahmer, J M Bülow Sand, S Rank Rønnow, D J Leeming, M A Karsdal, L Lunding, M Wegmann, B G G Oliver, J Duhn, Y Laumonnier, O Danov, K Sewald, U Zissler, M Jonker, I Koenig, G Hansen, E Von Mutius, O Fuchs, A Dittrich, B Schaub, C Happle, K F Rabe, M Van De Berge, J K Burgess, M V Kopp   +25 more
openaire   +2 more sources

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene [PDF]

, 2004
Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.BackgroundAlport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an X-linked semidominant condition
Vogiatzi, Paraskevi, Miglietti, Nunzia, Bresin, Elena, Seri, Marco, Caselli, Rossella, Longo, Ilaria, Abaterusso, Cataldo, Mari, Francesca, Scala, Elisa, Renieri, Alessandra, Pescucci, Chiara, Gusmano, Rosanna   +11 more
core   +4 more sources

Generation of a Col4a3 knockout mouse strain.

, 2022
(A) Schematic representation of the genomic structure of the exons 47 to 49 of mouse Col4a3 gene. Arrows show the location of primers used for PCR reaction followed by sequence analysis.
Manami Iida (4488421), Otoya Ueda (381719), Naoko A. Wada (12225557), Yoshinori Tsuboi (12225560), Atsuo Kurata (8755266), Kou-ichi Jishage (381727), Shuichi Ohtomo (12225554), Naoshi Horiba (8755272)   +7 more
core   +2 more sources

COL4A3 mutations cause focal segmental glomerulosclerosis [PDF]

Journal of Molecular Cell Biology, 2014
Focal segmental glomerulosclerosis (FSGS) is a histologically identifiable glomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive ...
Jingyuan, Xie, Xiaoxi, Wu, Hong, Ren, Weiming, Wang, Zhaohui, Wang, Xiaoxia, Pan, Xu, Hao, Jun, Tong, Jun, Ma, Zhibin, Ye, Guoyu, Meng, Yufei, Zhu, Krzysztof, Kiryluk, Xiangyin, Kong, Landian, Hu, Nan, Chen   +15 more
openaire   +3 more sources

4528 Sirtuin 3 activation as a potential renoprotective therapy in a mouse model of Alport syndrome

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: Sirtuin 3 (Sirt3), a mitochondrial NAD+-dependent deacetylase, is decreased in diverse models of kidney disease, and Sirt3 activation prevents disease progression in many of those models.
Bryce Jones, Komuraiah Myakala, Xiaoxin Wang, Andrew Libby, Shogo Takahashi, Kanchan Bhasin, Suman Ranjit, Avi Rosenberg, Moshe Levi   +8 more
doaj   +1 more source

Nueva variante en el gen COL4A3: etiología de un síndrome de Alport tipo 2 en varón de 38 años con sospecha de nefritis hereditaria

Advances in Laboratory Medicine, 2021
Los pacientes con síndrome de Alport experimentan una pérdida progresiva de la función renal, pérdida auditiva neurosensorial y anomalías oculares.
Sienes Bailo Paula, Bancalero Flores José Luis, Lahoz Alonso Raquel, Santamaría González María, Gutiérrez Dalmau Alex, Álvarez de Andrés Sara, Izquierdo Álvarez Silvia   +6 more
doaj   +1 more source

A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

Advances in Laboratory Medicine, 2021
Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or ...
Sienes Bailo Paula, Bancalero Flores José Luis, Lahoz Alonso Raquel, Santamaría González María, Gutiérrez Dalmau Alex, Álvarez de Andrés Sara, Izquierdo Álvarez Silvia   +6 more
doaj   +1 more source

COL4A3 Gene Variants and Diabetic Kidney Disease in MODY [PDF]

Clinical Journal of the American Society of Nephrology, 2018
Background and objectives Despite advances in identifying genetic factors of diabetic kidney disease (DKD), much of the heritability remains unexplained. Nine maturity-onset diabetes in young (MODY) probands with kidney biopsy-proven DKD were selected and included in this study.
Yiting Wang, Junlin Zhang, Yingwang Zhao, Shanshan Wang, Jie Zhang, Qianqian Han, Rui Zhang, Ruikun Guo, Hanyu Li, Li Li, Tingli Wang, Xi Tang, Changzheng He, Geer Teng, Weiyue Gu, Fang Liu   +15 more
openaire   +2 more sources

Generation and characterization of an integration-free iPSC line SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene mutations

Stem Cell Research, 2021
Alport syndrome (AS) is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. Here we report the generation of an induced pluripotent stem cell line (iPSC) from an AS patient carrying compound heterozygote mutations (c.4243G 
Yanyan Ma, Zhendong Wang, Xiaolin Liu, Wenjie Sun, Yaoqin Gong, Guangyi Liu, Gongping Sun   +6 more
doaj   +1 more source