COL4A1, negatively regulated by XPD and miR-29a-3p, promotes cell proliferation, migration, invasion and epithelial–mesenchymal transition in liver cancer cells
Sign Up to like & getrecommendations! Published in 2021 at "Clinical and Translational Oncology"
DOI: 10.1007/s12094-021-02611-y
Abstract: Collagen type IV alpha 1 (COL4A1) exerts tumor-promoting functions in several tumors. However, its role in liver cancer remains not fully understood. Hence, this study aims to investigate the role of COL4A1 in regulating liver… read more here.
Keywords: col4a1; proliferation migration; mir 29a; xpd ... See more keywords
De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103825
Abstract: BACKGROUND The collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is… read more here.
Keywords: col4a1; late onset; case; mutation col4a1 ... See more keywords
Phenotypic characterization of COL4A1-related West syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106349
Abstract: Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant hereditary diseases. Patients with COL4A1 variants can present with epilepsy, most commonly focal… read more here.
Keywords: col4a1; phenotypic characterization; west syndrome; col4a1 related ... See more keywords
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0005-y
Abstract: Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography… read more here.
Keywords: col4a1; col4a1 mutation; novel col4a1; mutation fetus ... See more keywords
Collagen type IV alpha 1 (COL4A1) silence hampers the invasion, migration and epithelial–mesenchymal transition (EMT) of gastric cancer cells through blocking Hedgehog signaling pathway
Sign Up to like & getrecommendations! Published in 2022 at "Bioengineered"
DOI: 10.1080/21655979.2022.2053799
Abstract: ABSTRACT Gastric cancer (GC), which features high prevalence and mortality rate, remains the third most lethal cancer worldwide. The paper was designed to explore the impacts of collagen type IV alpha 1 (COL4A1) on GC,… read more here.
Keywords: hedgehog signaling; signaling pathway; hedgehog; col4a1 ... See more keywords
Abstract TMP23: Fetal Intraparenchymal Hemorrhage In Col4a1/2-related Disorders
Sign Up to like & getrecommendations! Published in 2023 at "Stroke"
DOI: 10.1161/str.54.suppl_1.tmp23
Abstract: Introduction: COL4A1/A2 mutations affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a potential cause of intracranial hemorrhage across the lifespan. We aim to describe fetal MRI findings and… read more here.
Keywords: hemorrhage; col4a1 mutations; iph; col4a1 ... See more keywords
Aberrant expression of COL4A1 in age-related cataract and its effect on cell proliferation, apoptosis and gene expression changes.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2023.03.01
Abstract: AIM To evaluate the regulation of the aberrant expression of collagen type IV alpha 1 chain (COL4A1) in the development of age-related cataract (ARC). METHODS Quantitative reverse transcription-polymerase chain reaction (qRT-PCR) and Western blot analysis… read more here.
Keywords: cell; apoptosis; proliferation; col4a1 ... See more keywords