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Select item 112410921.

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation

Chunhui Hu, Deying Liu, Hua Wang

Int J Med Sci. 2024; 21(9): 1756–1768. Published online 2024 Jul 2. doi: 10.7150/ijms.97164

PMCID:: PMC11241092

Abstract Article PDF–5.1M

Select item 85608322.

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

Moran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, Shay Ben-Shachar, Rachel Straussberg, Daphna Marom, Penina Ponger, Anat Bar-Shira, Gustavo Malinger, Aviva Fattal-Valevski

Eur J Hum Genet. 2021 Nov; 29(11): 1654–1662. Published online 2021 Apr 9. doi: 10.1038/s41431-021-00880-3

PMCID:: PMC8560832

Abstract Article PDF–1.3M

Select item 53568253.

siRNA-Mediated suppression of collagen type iv alpha 2 (COL4A2) mRNA inhibits triple-negative breast cancer cell proliferation and migration

He JingSong, Guan Hong, Jianbo Yang, Zheng Duo, Fu Li, Chen WeiCai, Luo XueYing, Mao YouSheng, OuYang YiWen, Pan Yue, Chang Zou

Oncotarget. 2017 Jan 10; 8(2): 2585–2593. Published online 2016 Nov 30. doi: 10.18632/oncotarget.13716

PMCID:: PMC5356825

Abstract Article PDF–3.7M

Select item 49367134.

Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction

Wei Yang, Fu Liang Ng, Kenneth Chan, Xiangyuan Pu, Robin N. Poston, Meixia Ren, Weiwei An, Ruoxin Zhang, Jingchun Wu, Shunying Yan, Haiteng Situ, Xinjie He, Yequn Chen, Xuerui Tan, Qingzhong Xiao, Arthur T. Tucker, Mark J. Caulfield, Shu Ye

PLoS Genet. 2016 Jul; 12(7): e1006127. Published online 2016 Jul 7. doi: 10.1371/journal.pgen.1006127

PMCID:: PMC4936713

Abstract Article PDF–1.9M

Select item 43516675.

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

Kristiina Rannikmäe, Gail Davies, Pippa A. Thomson, Steve Bevan, William J. Devan, Guido J. Falcone, Matthew Traylor, Christopher D. Anderson, Thomas W.K. Battey, Farid Radmanesh, Ranjan Deka, Jessica G. Woo, Lisa J. Martin, Jordi Jimenez-Conde, Magdy Selim, Devin L. Brown, Scott L. Silliman, Chelsea S. Kidwell, Joan Montaner, Carl D. Langefeld, Agnieszka Slowik, Björn M. Hansen, Arne G. Lindgren, James F. Meschia, Myriam Fornage, Joshua C. Bis, Stéphanie Debette, Mohammad A. Ikram, Will T. Longstreth, Reinhold Schmidt, Cathy R. Zhang, Qiong Yang, Pankaj Sharma, Steven J. Kittner, Braxton D. Mitchell, Elizabeth G. Holliday, Christopher R. Levi, John Attia, Peter M. Rothwell, Deborah L. Poole, Giorgio B. Boncoraglio, Bruce M. Psaty, Rainer Malik, Natalia Rost, Bradford B. Worrall, Martin Dichgans, Tom Van Agtmael, Daniel Woo, Hugh S. Markus, Sudha Seshadri, Jonathan Rosand, Cathie L.M. Sudlow

Neurology. 2015 Mar 3; 84(9): 918–926. doi: 10.1212/WNL.0000000000001309

PMCID:: PMC4351667

Abstract Article PDF–608K

Select item 39994506.

Canstatin induces apoptosis in gastric cancer xenograft growth in mice through the mitochondrial apoptotic pathway

Ya-Nan Xing, Peng Deng, Hui-Mian Xu

Biosci Rep. 2014; 34(2): e00106. Prepublished online 2014 Apr 2. Published online 2014 Apr 25. doi: 10.1042/BSR20140012

PMCID:: PMC3999450

Abstract Article PDF–608K

Select item 34007347.

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Elly Verbeek, Marije EC Meuwissen, Frans W Verheijen, Paul P Govaert, Daniel J Licht, Debbie S Kuo, Cathryn J Poulton, Rachel Schot, Maarten H Lequin, Jeroen Dudink, Dicky J Halley, René IF de Coo, Jan C den Hollander, Renske Oegema, Douglas B Gould, Grazia MS Mancini

Eur J Hum Genet. 2012 Aug; 20(8): 844–851. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.20

PMCID:: PMC3400734

Abstract Article PDF–546K

Select item 32578978.

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

Am J Hum Genet. 2012 Jan 13; 90(1): 86–90. doi: 10.1016/j.ajhg.2011.11.016

PMCID:: PMC3257897

Abstract Article PDF–551K

Select item 88224989.

Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts

Elie Ngandu Mpoyi, Marco Cantini, Yuan Yan Sin, Lauren Fleming, Dennis W. Zhou, Mercedes Costell, Yinhui Lu, Karl Kadler, Andrés J. García, Tom Van Agtmael, Manuel Salmeron-Sanchez

Biomaterials. Author manuscript; available in PMC 2022 Feb 8.

Published in final edited form as: Biomaterials. 2020 Sep; 252: 120090. Published online 2020 May 3. doi: 10.1016/j.biomaterials.2020.120090

PMCID:: PMC8822498

Abstract Article PDF–2.4M

Select item 833668710.

Replication of top loci from COL4A1/2 associated with white matter hyperintensity burden in ischemic stroke patients

Jiang Li, Vida Abedi, Regeneron Genetic Center, Ramin Zand, Christoph J. Griessenauer

Stroke. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Stroke. 2020 Dec; 51(12): 3751–3755. Published online 2020 Nov 5. doi: 10.1161/STROKEAHA.120.030260

PMCID:: PMC8336687

Abstract Article PDF–741K

Select item 783943611.

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Saskia Koene, Cacha M. P. C. D. Peeters‐Scholte, Jeroen Knijnenburg, Linda S. de Vries, Phebe N. Adama van Scheltema, Marije E. Meuwissen, Sylke J. Steggerda, Gijs W. E. Santen

Am J Med Genet A. 2021 Feb; 185(2): 571–574. Published online 2020 Nov 28. doi: 10.1002/ajmg.a.61988

PMCID:: PMC7839436

Abstract Article PDF–1.5M

Select item 659966512.

COL4A2 in the tissue-specific extracellular matrix plays important role on osteogenic differentiation of periodontal ligament stem cells

Yi Wen, Hongxu Yang, Junjie Wu, Axian Wang, Xiaodong Chen, Sijun Hu, Yuxing Zhang, Ding Bai, Zuolin Jin

Theranostics. 2019; 9(15): 4265–4286. Published online 2019 May 31. doi: 10.7150/thno.35914

PMCID:: PMC6599665

Abstract Article PDF–6.0M

Select item 628223913.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Sara Zagaglia, Christina Selch, Jelena Radic Nisevic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, S. Krithika, Katharina Vezyroglou, Sophia M. Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance L. Smith-Hicks, Naomi Hino-Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, Anette Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Josef Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

Neurology. 2018 Nov 27; 91(22): e2078–e2088. doi: 10.1212/WNL.0000000000006567

Correction in:: Neurology. 2020 Feb 18; 94(7): 332.

PMCID:: PMC6282239

Abstract Article PDF–1.1M

Select item 621153914.

Structures of collagen IV globular domains: insight into associated pathologies, folding and network assembly

Patricia Casino, Roberto Gozalbo-Rovira, Jesús Rodríguez-Díaz, Sreedatta Banerjee, Ariel Boutaud, Vicente Rubio, Billy G. Hudson, Juan Saus, Javier Cervera, Alberto Marina

IUCrJ. 2018 Nov 1; 5(Pt 6): 765–779. Published online 2018 Oct 10. doi: 10.1107/S2052252518012459

Correction in:: IUCrJ. 2020 Jul 1; 7(Pt 4): 777.

PMCID:: PMC6211539

Abstract Article PDF–3.0M

Select item 566430215.

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

Kristiina Rannikmäe, Vhinoth Sivakumaran, Henry Millar, Rainer Malik, Christopher D. Anderson, Mike Chong, Tushar Dave, Guido J. Falcone, Israel Fernandez-Cadenas, Jordi Jimenez-Conde, Arne Lindgren, Joan Montaner, Martin O'Donnell, Guillaume Paré, Farid Radmanesh, Natalia S. Rost, Agnieszka Slowik, Martin Söderholm, Matthew Traylor, Sara L. Pulit, Sudha Seshadri, Brad B. Worrall, Daniel Woo, Hugh S. Markus, Braxton D. Mitchell, Martin Dichgans, Jonathan Rosand, Cathie L.M. Sudlow

Neurology. 2017 Oct 24; 89(17): 1829–1839. doi: 10.1212/WNL.0000000000004560