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135 results for Collagen+Type+VI+-+genetics

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ArticlesPeer ReviewedFull Text
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Author / Creator:Van Hout, Cristopher V. ; Tachmazidou, Ioanna ; Backman, Joshua D. ; Hoffman, Joshua D. ; Liu, Daren ; Pandey, Ashutosh K. ; Gonzaga-Jauregui, Claudia ; Khalid, Shareef ; Ye, Bin ; Banerjee, Nilanjana ; Li, Alexander H. ; O’Dushlaine, Colm ; Marcketta, Anthony ; Staples, Jeffrey ; Schurmann, Claudia ; Hawes, Alicia ; Maxwell, Evan ; Barnard, Leland ; Lopez, Alexander ; Penn, John ; Habegger, Lukas ; Blumenfeld, Andrew L. ; Bai, Xiaodong ; O’Keeffe, Sean ; Yadav, Ashish ; Praveen, Kavita ; Jones, Marcus ; Salerno, William J. ; Chung, Wendy K. ; Surakka, Ida ; Willer, Cristen J. ; Hveem, Kristian ; Leader, Joseph B. ; Carey, David J. ; Ledbetter, David H. ; Cardon, Lon ; Yancopoulos, George D. ; Economides, Aris ; Coppola, Giovanni ; Shuldiner, Alan R. ; Balasubramanian, Suganthi ; Cantor, Michael ; Nelson, Matthew R. ; Whittaker, John ; Reid, Jeffrey G. ; Marchini, Jonathan ; Overton, John D. ; Scott, Robert A. ; Abecasis, Gonçalo R. ; Yerges-Armstrong, Laura ; Baras, Aris
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2020-10, Vol.586 (7831), p.749-756
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Altered perivascular fibroblast activity precedes ALS disease onset
Author / Creator:Månberg, Anna ; Skene, Nathan ; Sanders, Folkert ; Trusohamn, Marta ; Remnestål, Julia ; Szczepińska, Anna ; Aksoylu, Inci Sevval ; Lönnerberg, Peter ; Ebarasi, Lwaki ; Wouters, Stefan ; Lehmann, Manuela ; Olofsson, Jennie ; von Gohren Antequera, Inti ; Domaniku, Aylin ; De Schaepdryver, Maxim ; De Vocht, Joke ; Poesen, Koen ; Uhlén, Mathias ; Anink, Jasper ; Mijnsbergen, Caroline ; Vergunst-Bosch, Hermieneke ; Hübers, Annemarie ; Kläppe, Ulf ; Rodriguez-Vieitez, Elena ; Gilthorpe, Jonathan D. ; Hedlund, Eva ; Harris, Robert A. ; Aronica, Eleonora ; Van Damme, Philip ; Ludolph, Albert ; Veldink, Jan ; Ingre, Caroline ; Nilsson, Peter ; Lewandowski, Sebastian A.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2021-04, Vol.27 (4), p.640-646
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The UCMD-Causing COL6A1 ( c .930 + 189 C > T ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α 1 Chains
Author / Creator:Freiburg, Carolin D ; Solomon-Degefa, Herimela ; Freiburg, Patrick ; Mörgelin, Matthias ; Bolduc, Véronique ; Schmitz, Sebastian ; Ala, Pierpaolo ; Muntoni, Francesco ; Behrmann, Elmar ; Bönnemann, Carsten G ; Schiavinato, Alvise ; Paulsson, Mats ; Wagener, Raimund
Publisher:United States
Journal title:Human mutation, 2023, Vol.2023, p.6892763
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Endotrophin triggers adipose tissue fibrosis and metabolic dysfunction
Author / Creator:Sun, Kai ; Park, Jiyoung ; Gupta, Olga T. ; Holland, William L. ; Auerbach, Pernille ; Zhang, Ningyan ; Goncalves Marangoni, Roberta ; Nicoloro, Sarah M. ; Czech, Michael P. ; Varga, John ; Ploug, Thorkil ; An, Zhiqiang ; Scherer, Philipp E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-03, Vol.5 (1), p.3485-3485, Article 3485
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Endotrophin, a Key Marker and Driver for Fibroinflammatory Disease
Author / Creator:Henriksen, Kim ; Genovese, Federica ; Reese-Petersen, Alexander ; Audoly, Laurent P ; Sun, Kai ; Karsdal, Morten A ; Scherer, Philipp E
Publisher:US: Oxford University Press
Journal title:Endocrine reviews, 2024-05, Vol.45 (3), p.361-378
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Collagen VI in the Musculoskeletal System
Author / Creator:Di Martino, Alberto ; Cescon, Matilde ; D’Agostino, Claudio ; Schilardi, Francesco ; Sabatelli, Patrizia ; Merlini, Luciano ; Faldini, Cesare
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-03, Vol.24 (6), p.5095
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Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice
Author / Creator:Mohassel, Payam ; Hearn, Hailey ; Rooney, Jachinta ; Zou, Yaqun ; Johnson, Kory ; Norato, Gina ; Nalls, Matthew A. ; Yun, Pomi ; Ogata, Tracy ; Silverstein, Sarah ; Sleboda, David A. ; Roberts, Thomas J. ; Rifkin, Daniel B. ; Bönnemann, Carsten G.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2025-05, Vol.135 (9), p.1-18
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Lysyl hydroxylase 2 glucosylates collagen VI to drive lung cancer progression
Author / Creator:Wang, Shike ; Guo, Houfu ; Fukushima, Reo ; Terajima, Masahiko ; Liu, Min ; Xiao, Guan-Yu ; Koudelková, Lenka ; Wu, Chao ; Liu, Xin ; Yu, Jiang ; Burris, Emma ; Xu, Jun ; Schiavinato, Alvise ; Russell, William K. ; Yamauchi, Mitsuo ; Tan, Xiaochao ; Kurie, Jonathan M.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2025-04, Vol.135 (7)
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COL6A1 promotes metastasis and predicts poor prognosis in patients with pancreatic cancer
Author / Creator:Owusu‑Ansah, Kwabena ; Song, Guangyuan ; Chen, Ronggao ; Edoo, Muhammad ; Li, Jun ; Chen, Bingjie ; Wu, Jian ; Zhou, Lin ; Xie, Haiyang ; Jiang, Donghai ; Zheng, Shusen
Publisher:Athens: Spandidos Publications
Journal title:International journal of oncology, 2019-08, Vol.55 (2), p.391-404
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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
Author / Creator:Chae, Jong Hee ; Vasta, Valeria ; Cho, Anna ; Lim, Byung Chan ; Zhang, Qing ; Eun, So Hee ; Hahn, Si Houn
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2015-03, Vol.52 (3), p.208-216
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Collagen VI regulates peripheral nerve regeneration by modulating macrophage recruitment and polarization
Author / Creator:Chen, Peiwen ; Cescon, Matilde ; Zuccolotto, Gaia ; Nobbio, Lucilla ; Colombelli, Cristina ; Filaferro, Monica ; Vitale, Giovanni ; Feltri, M. Laura ; Bonaldo, Paolo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2015-01, Vol.129 (1), p.97-113
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Characterization of a pluripotent stem cell-derived matrix with powerful osteoregenerative capabilities
Author / Creator:McNeill, Eoin P. ; Zeitouni, Suzanne ; Pan, Simin ; Haskell, Andrew ; Cesarek, Michael ; Tahan, Daniel ; Clough, Bret H. ; Krause, Ulf ; Dobson, Lauren K. ; Garcia, Mayra ; Kung, Christopher ; Zhao, Qingguo ; Saunders, W. Brian ; Liu, Fei ; Kaunas, Roland ; Gregory, Carl A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-06, Vol.11 (1), p.3025-3025, Article 3025
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The collagen VI-related myopathies: muscle meets its matrix
Author / Creator:Bonnemann, Carsten G
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Neurology, 2011-07, Vol.7 (7), p.379-390
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Blockade to pathological remodeling of infarcted heart tissue using a porcupine antagonist
Author / Creator:Moon, Jesung ; Zhou, Huanyu ; Zhang, Li-shu ; Tan, Wei ; Liu, Ying ; Zhang, Shanrong ; Morlock, Lorraine K. ; Bao, Xiaoping ; Palecek, Sean P. ; Feng, Jian Q. ; Williams, Noelle S. ; Amatruda, James F. ; Olson, Eric N. ; Bassel-Duby, Rhonda ; Lum, Lawrence
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-02, Vol.114 (7), p.1649-1654
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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study
Author / Creator:Hu, Chaoping ; Shi, Yiyun ; Zhao, Lei ; Zhu, Wenhua ; Jiao, Kexin ; Yu, Lifei ; Li, Xihua ; Wang, Yi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Human mutation, 2024, Vol.2024 (1), p.3503253
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Oncogene-induced matrix reorganization controls CD8+ T cell function in the soft-tissue sarcoma microenvironment
Author / Creator:Fuller, Ashley M. ; Pruitt, Hawley C. ; Liu, Ying ; Irizarry-Negron, Valerie M. ; Pan, Hehai ; Song, Hoogeun ; DeVine, Ann ; Katti, Rohan S. ; Devalaraja, Samir ; Ciotti, Gabrielle E. ; Gonzalez, Michael V. ; Williams, Erik F. ; Murazzi, Ileana ; Ntekoumes, Dimitris ; Skuli, Nicolas ; Hakonarson, Hakon ; Zabransky, Daniel J. ; Trevino, Jose G. ; Weeraratna, Ashani ; Weber, Kristy ; Haldar, Malay ; Fraietta, Joseph A. ; Gerecht, Sharon ; Eisinger-Mathason, T.S. Karin
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2024-06, Vol.134 (11), p.1-19
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
Author / Creator:Delbaere, Sarah ; Dhooge, Tibbe ; Syx, Delfien ; Petit, Florence ; Goemans, Nathalie ; Destrée, Anne ; Vanakker, Olivier ; De Rycke, Riet ; Symoens, Sofie ; Malfait, Fransiska
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-01, Vol.22 (1), p.112-123
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Col6a1+/CD201+ mesenchymal cells regulate intestinal morphogenesis and homeostasis
Author / Creator:Melissari, Maria-Theodora ; Henriques, Ana ; Tzaferis, Christos ; Prados, Alejandro ; Sarris, Michalis E. ; Chalkidi, Niki ; Mavroeidi, Dimitra ; Chouvardas, Panagiotis ; Grammenoudi, Sofia ; Kollias, George ; Koliaraki, Vasiliki
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2022-01, Vol.79 (1), p.1, Article 1
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COL6A3 expression in adipose tissue cells is associated with levels of the homeobox transcription factor PRRX1
Author / Creator:Dankel, Simon N. ; Grytten, Elise ; Bjune, Jan-Inge ; Nielsen, Hans Jørgen ; Dietrich, Arne ; Blüher, Matthias ; Sagen, Jørn V. ; Mellgren, Gunnar
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-11, Vol.10 (1), p.20164-20164, Article 20164
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AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion
Author / Creator:Schuster, Anne ; Klein, Eliane ; Neirinckx, Virginie ; Knudsen, Arnon Møldrup ; Fabian, Carina ; Hau, Ann-Christin ; Dieterle, Monika ; Oudin, Anais ; Nazarov, Petr V. ; Golebiewska, Anna ; Muller, Arnaud ; Perez-Hernandez, Daniel ; Rodius, Sophie ; Dittmar, Gunnar ; Bjerkvig, Rolf ; Herold-Mende, Christel ; Klink, Barbara ; Kristensen, Bjarne Winther ; Niclou, Simone P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-12, Vol.11 (1), p.6366-6366, Article 6366
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Showing 1 to 20 of 135 results

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank

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Altered perivascular fibroblast activity precedes ALS disease onset

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The UCMD-Causing COL6A1 ( c .930 + 189 C > T ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α 1 Chains

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Endotrophin triggers adipose tissue fibrosis and metabolic dysfunction

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Endotrophin, a Key Marker and Driver for Fibroinflammatory Disease

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Collagen VI in the Musculoskeletal System

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Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice

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Lysyl hydroxylase 2 glucosylates collagen VI to drive lung cancer progression

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COL6A1 promotes metastasis and predicts poor prognosis in patients with pancreatic cancer

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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

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Collagen VI regulates peripheral nerve regeneration by modulating macrophage recruitment and polarization

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Characterization of a pluripotent stem cell-derived matrix with powerful osteoregenerative capabilities

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The collagen VI-related myopathies: muscle meets its matrix

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Blockade to pathological remodeling of infarcted heart tissue using a porcupine antagonist

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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study

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Oncogene-induced matrix reorganization controls CD8+ T cell function in the soft-tissue sarcoma microenvironment

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

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Col6a1+/CD201+ mesenchymal cells regulate intestinal morphogenesis and homeostasis

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COL6A3 expression in adipose tissue cells is associated with levels of the homeobox transcription factor PRRX1

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AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion

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