| Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage. | Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
McNeilly S, Thomson CR, Gonzalez-Trueba L, Sin YY, Granata A, Hamilton G, Lee M, Boland E, McClure JD, Lumbreras-Perales C, Aman A, Kumar AA, Cantini M, Gök C, Graham D, Tomono Y, Anderson CD, Lu Y, Smith C, Markus HS, Abramowicz M, Vilain C, Al-Shahi Salman R, Salmeron-Sanchez M, Hainsworth AH, Fuller W, Kadler KE, Bulleid NJ, Van Agtmael T., Free PMC Article | 11/6/2024 |
| Association of the COL4A2 Gene Polymorphisms with Primary Intracerebral Hemorrhage Risk and Outcome in Chinese Han Population. | Association of the COL4A2 Gene Polymorphisms with Primary Intracerebral Hemorrhage Risk and Outcome in Chinese Han Population.
Wang H, Zhu Y, Zheng L, Chen M, Hao Z, Guo R, Feng L, Wang D. | 10/31/2024 |
| COL4A2 enhances thyroid cancer cell proliferation through the AKT pathway. | COL4A2 enhances thyroid cancer cell proliferation through the AKT pathway.
He L, Han W, Yue K, Wang X., Free PMC Article | 09/4/2024 |
| Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation. | Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.
Hu C, Liu D, Wang H., Free PMC Article | 08/4/2024 |
| Venous Tortuosity in COL4A2-Associated Gould Syndrome. | Venous Tortuosity in COL4A2-Associated Gould Syndrome.
Oh JK, Levi SR, de Carvalho JRL Jr, Abdelhakim AH, Hirano M, Maumenee IH, Tsang SH. | 09/20/2023 |
| Secretome analysis reveals reduced expression of COL4A2 in hypoxic cancer-associated fibroblasts with a tumor-promoting function in gastric cancer. | Secretome analysis reveals reduced expression of COL4A2 in hypoxic cancer-associated fibroblasts with a tumor-promoting function in gastric cancer.
Park SG, Ji MJ, Ham IH, Shin YH, Lee SM, Lee CH, Kim E, Hur H, Park HM, Kim JY. | 07/20/2023 |
| Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen alpha1alpha1alpha2(IV). | Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
Ishikawa Y, Taga Y, Coste T, Tufa SF, Keene DR, Mizuno K, Tournier-Lasserve E, Gould DB., Free PMC Article | 01/14/2023 |
| Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology. | Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.
Donner I, Sipilä LJ, Plaketti RM, Kuosmanen A, Forsström L, Katainen R, Kuismin O, Aavikko M, Romsi P, Kariniemi J, Aaltonen LA. | 10/1/2022 |
| The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma. | The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma.
Yang C, Cao H, Yang JW, Wang JT, Yu MM, Wang BS. | 08/20/2022 |
| Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations. | Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.
Hausman-Kedem M, Ben-Sira L, Kidron D, Ben-Shachar S, Straussberg R, Marom D, Ponger P, Bar-Shira A, Malinger G, Fattal-Valevski A., Free PMC Article | 03/26/2022 |
| Prenatal clinical manifestations in individuals with COL4A1/2 variants. | Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. | 02/19/2022 |
| Whole-exome sequencing of Finnish patients with vascular cognitive impairment. | Whole-exome sequencing of Finnish patients with vascular cognitive impairment.
Mönkäre S, Kuuluvainen L, Kun-Rodrigues C, Carmona S, Schleutker J, Bras J, Pöyhönen M, Guerreiro R, Myllykangas L., Free PMC Article | 01/15/2022 |
| Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. | Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
Boyce D, McGee S, Shank L, Pathak S, Gould D. | 12/18/2021 |
| Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions. | Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, Maisonneuve E, Moutard ML, Coste T, Héron D, Tournier-Lasserve E, Garel C, Jouannic JM. | 12/11/2021 |
| Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis. | Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis.
Dong Z, Lei X, Kujawa SA, Bolu N, Zhao H, Wang C., Free PMC Article | 10/16/2021 |
| Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication. | Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
Koene S, Peeters-Scholte CMPCD, Knijnenburg J, de Vries LS, van Scheltema PNA, Meuwissen ME, Steggerda SJ, Santen GWE., Free PMC Article | 07/10/2021 |
| Novel COL4A2 mutation causing familial malformations of cortical development. | Novel COL4A2 mutation causing familial malformations of cortical development.
Neri S, Ferlazzo E, Africa E, Versace P, Ascoli M, Mastroianni G, Cianci V, Aguglia U, Gasparini S. | 07/3/2021 |
| Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts. | Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts.
Ngandu Mpoyi E, Cantini M, Sin YY, Fleming L, Zhou DW, Costell M, Lu Y, Kadler K, García AJ, Van Agtmael T, Salmeron-Sanchez M., Free PMC Article | 06/12/2021 |
| Age-dependent changes of collagen alpha-2(IV) expression in the extracellular matrix of brain arteriovenous malformations. | Age-dependent changes of collagen alpha-2(IV) expression in the extracellular matrix of brain arteriovenous malformations.
Neyazi B, Stein KP, Wilkens L, Maslehaty H, Dumitru CA, Sandalcioglu IE. | 05/1/2021 |
| Replication of Top Loci From COL4A1/2 Associated With White Matter Hyperintensity Burden in Patients With Ischemic Stroke. | Replication of Top Loci From COL4A1/2 Associated With White Matter Hyperintensity Burden in Patients With Ischemic Stroke.
Li J, Abedi V, Regeneron Genetic Center, Zand R, Griessenauer CJ., Free PMC Article | 02/20/2021 |
| Wnt/beta-catenin pathway was found to play an important role in the negative regulation of osteogenesis through COL4A2. | COL4A2 in the tissue-specific extracellular matrix plays important role on osteogenic differentiation of periodontal ligament stem cells.
Wen Y, Yang H, Wu J, Wang A, Chen X, Hu S, Zhang Y, Bai D, Jin Z., Free PMC Article | 07/11/2020 |
| rs3803230 and rs76425569 showed significant association with the risk of lacunar stroke in Xinjiang Han population. | Association of COL4A2 Gene Polymorphisms with Lacunar Stroke in Xinjiang Han Populations.
Liang C, Zhang J, Liu H, Ma J, An Z, Xia W, Zhang X. | 01/25/2020 |
| Our results indicated that NID2, COL4A1 and COL4A2 could be the potential novel biomarkers for gastric cancer diagnosis prognosis and the promising therapeutic targets | Integrated bioinformatics analysis reveals novel key biomarkers and potential candidate small molecule drugs in gastric cancer.
Wu Q, Zhang B, Wang Z, Hu X, Sun Y, Xu R, Chen X, Wang Q, Ju F, Ren S, Zhang C, Qi F, Ma Q, Xue Q, Zhou YL. | 08/31/2019 |
| COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. | Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM., Free PMC Article | 08/31/2019 |
| Here, we set out to determine the efficacy of PBA as a treatment for adult COL4A1/4A2 pathologies. Our data establish that reducing ER stress is a therapeutic avenue for preventing and treating established adult ICH, but is not for effective eye and renal pathologies and can be counter-indicative for pathologies due to BM defects as it reduces their ability to withstand mechanical stress. | 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.
Jones FE, Murray LS, McNeilly S, Dean A, Aman A, Lu Y, Nikolova N, Malomgré R, Horsburgh K, Holmes WM, Kadler KE, Van Agtmael T., Free PMC Article | 06/22/2019 |