PMC Articles for MedGen (Select 339548) - PMC

Julie Niemela, Hye Sun Kuehn, Corin Kelly, Mingchang Zhang, Joie Davies, Melendez Jose, Jennifer Dreiling, David Kleiner, Katherine Calvo, João B. Oliveira, Sergio D. Rosenzweig

J Clin Immunol. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: J Clin Immunol. 2015 May; 35(4): 348–355. Published online 2015 Mar 27. doi: 10.1007/s10875-015-0150-8

PMCID:: PMC4439260

Article PDF–714K

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Caspase-8 deficiency in epidermal keratinocytes triggers an inflammatory skin disease

Andrew Kovalenko, Jin-Chul Kim, Tae-Bong Kang, Akhil Rajput, Konstantin Bogdanov, Oliver Dittrich-Breiholz, Michael Kracht, Ori Brenner, David Wallach

J Exp Med. 2009 Sep 28; 206(10): 2161–2177. doi: 10.1084/jem.20090616

PMCID:: PMC2757876

Article PDF–9.5M

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Caspase-8 deficiency in T cells leads to a lethal lymphoinfiltrative immune disorder

Leonardo Salmena, Razqallah Hakem

J Exp Med. 2005 Sep 19; 202(6): 727–732. doi: 10.1084/jem.20050683

PMCID:: PMC2212954

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Endothelial Caspase-8 prevents fatal necroptotic hemorrhage caused by commensal bacteria

Stefanie M. Bader, Simon P. Preston, Katie Saliba, Adam Lipszyc, Zoe L. Grant, Liana Mackiewicz, Andrew Baldi, Anne Hempel, Michelle P. Clark, Thanushi Peiris, William Clow, Jan Bjelic, Michael D. Stutz, Philip Arandjelovic, Jack Teale, Fashuo Du, Leigh Coultas, James M. Murphy, Cody C. Allison, Marc Pellegrini, Andre L. Samson

Cell Death Differ. 2023 Jan; 30(1): 27–36. Published online 2022 Jul 23. doi: 10.1038/s41418-022-01042-8

PMCID:: PMC9883523

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Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers‐Danlos syndrome

Jordan Fett, Milena Dimori, John L. Carroll, Roy Morello

Physiol Rep. 2022 Apr; 10(8): e15275. Published online 2022 Apr 19. doi: 10.14814/phy2.15275

PMCID:: PMC9017971

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Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Lucia Micale, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, Marco Castori

Genes (Basel) 2021 Dec; 12(12): 1928. Published online 2021 Nov 29. doi: 10.3390/genes12121928

PMCID:: PMC8702215

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Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du

Mol Genet Genomic Med. 2021 May; 9(5): e1632. Published online 2021 Apr 8. doi: 10.1002/mgg3.1632

PMCID:: PMC8172199

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Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

Marco Ritelli, Valeria Cinquina, Marina Venturini, Marina Colombi

Mol Genet Genomic Med. 2020 Oct; 8(10): e1422. Published online 2020 Jul 28. doi: 10.1002/mgg3.1422

PMCID:: PMC7549590

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Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli, Marina Colombi

Orphanet J Rare Dis. 2020; 15: 197. Published online 2020 Jul 31. doi: 10.1186/s13023-020-01470-0

PMCID:: PMC7393722

Article PDF–5.8M

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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Chloe Angwin, Angela F. Brady, Marina Colombi, David J. P. Ferguson, Rebecca Pollitt, F. Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S. van Dijk

Genes (Basel) 2019 Oct; 10(10): 762. Published online 2019 Sep 27. doi: 10.3390/genes10100762

PMCID:: PMC6826538

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A case of Ehlers–Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report

Xiangwen Xu, Zhichao Wang, Tao Zan

Medicine (Baltimore) 2019 Sep; 98(37): e17138. Published online 2019 Sep 13. doi: 10.1097/MD.0000000000017138

PMCID:: PMC6750314

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Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

Nicola Chiarelli, Marco Ritelli, Nicoletta Zoppi, Marina Colombi

Genes (Basel) 2019 Aug; 10(8): 609. Published online 2019 Aug 12. doi: 10.3390/genes10080609

PMCID:: PMC6723307

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Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

Marco Ritelli, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Maria Formenti, Nicola Chiarelli, Marina Colombi

Genes (Basel) 2019 Feb; 10(2): 135. Published online 2019 Feb 12. doi: 10.3390/genes10020135

PMCID:: PMC6410021

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Redundant and receptor-specific activities of TRADD, RIPK1 and FADD in death receptor signaling

Simone Füllsack, Alevtina Rosenthal, Harald Wajant, Daniela Siegmund

Cell Death Dis. 2019 Feb; 10(2): 122. Published online 2019 Feb 11. doi: 10.1038/s41419-019-1396-5

PMCID:: PMC6370826

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Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi

PLoS One. 2019; 14(2): e0211647. Published online 2019 Feb 4. doi: 10.1371/journal.pone.0211647

PMCID:: PMC6361458

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Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

Nicoletta Zoppi, Nicola Chiarelli, Marco Ritelli, Marina Colombi

Int J Mol Sci. 2018 Apr; 19(4): 982. Published online 2018 Mar 26. doi: 10.3390/ijms19040982

PMCID:: PMC5979373

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Conditional deletion of caspase-8 in macrophages alters macrophage activation in a RIPK-dependent manner

Carla M. Cuda, Alexander V. Misharin, Sonal Khare, Rana Saber, FuNien Tsai, Amy M. Archer, Philip J. Homan, G. Kenneth Haines, III, Jack Hutcheson, Andrea Dorfleutner, G. R. Scott Budinger, Christian Stehlik, Harris Perlman

Arthritis Res Ther. 2015; 17: 291. Published online 2015 Oct 16. doi: 10.1186/s13075-015-0794-z

PMCID:: PMC4608154

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Caspase-8 Acts as a Molecular Rheostat to Limit RIPK1- and MyD88-Mediated Dendritic Cell Activation

Carla M. Cuda, Alexander V. Misharin, Angelica K. Gierut, Rana Saber, G. Kenneth Haines, III, Jack Hutcheson, Stephen M. Hedrick, Chandra Mohan, G. Scott Budinger, Christian Stehlik, Harris Perlman

J Immunol. Author manuscript; available in PMC 2015 Jun 15.

Published in final edited form as: J Immunol. 2014 Jun 15; 192(12): 5548–5560. Published online 2014 May 7. doi: 10.4049/jimmunol.1400122