PMC Articles for MedGen (Select 351273) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 82524561.

Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis

Farzana Bhuyan, Adriana A. de Jesus, Jacob Mitchell, Evgenia Leikina, Rachel VanTries, Ronit Herzog, Karen B. Onel, Andrew Oler, Gina A. Montealegre Sanchez, Kim A. Johnson, Lena Bichell, Bernadette Marrero, Luis Fernandez De Castro, Yan Huang, Katherine R. Calvo, Michael T. Collins, Sundar Ganesan, Leonid V. Chernomordik, Polly J. Ferguson, Raphaela Goldbach‐Mansky

Arthritis Rheumatol. 2021 Jun; 73(6): 1021–1032. Published online 2021 May 9. doi: 10.1002/art.41624

PMCID:: PMC8252456

Abstract Article PDF–1.0M

Select item 79973172.

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

Polly J. Ferguson, Hatem El-Shanti

Biomolecules. 2021 Mar; 11(3): 367. Published online 2021 Feb 28. doi: 10.3390/biom11030367

PMCID:: PMC7997317

Abstract Article PDF–596K

Select item 68573073.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu

BMC Med Genet. 2019; 20: 182. Published online 2019 Nov 14. doi: 10.1186/s12881-019-0919-3

PMCID:: PMC6857307

Abstract Article PDF–773K

Select item 67687914.

Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report

Zakiya AL MOSAWI, Wafa MADAN, Barrak AL MOOSAWI, Sayed AL-WADAEI, Husain NASER, Fuad ALI

Arch Rheumatol. 2019 Sep; 34(3): 352–356. Published online 2019 Apr 22. doi: 10.5606/ArchRheumatol.2019.7267

PMCID:: PMC6768791

Abstract Article PDF–241K

Select item 36601475.

Efficacy of anti-IL-1 treatment in Majeed syndrome

Troels Herlin, Bente Fiirgaard, Mette Bjerre, Gitte Kerndrup, Henrik Hasle, Xinyu Bing, Polly J. Ferguson

Ann Rheum Dis. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Ann Rheum Dis. 2013 Mar; 72(3): 410–413. Published online 2012 Oct 20. doi: 10.1136/annrheumdis-2012-201818

PMCID:: PMC3660147

Abstract Article PDF–1.2M

Select item 17361046.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

P Ferguson, S Chen, M Tayeh, L Ochoa, S Leal, A Pelet, A Munnich, S Lyonnet, H Majeed, H El-Shanti

J Med Genet. 2005 Jul; 42(7): 551–557. doi: 10.1136/jmg.2005.030759

PMCID:: PMC1736104

Summary PDF–131K

Select item 95005497.

MJDs family members: Potential prognostic targets and immune-associated biomarkers in hepatocellular carcinoma

Lei Zhou, Guojie Chen, Tao Liu, Xinyuan Liu, Chengxiao Yang, Jianxin Jiang

Front Genet. 2022; 13: 965805. Published online 2022 Sep 9. doi: 10.3389/fgene.2022.965805

PMCID:: PMC9500549

Abstract Article PDF–6.9M

Select item 95752918.

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

Yandie Li, Meiping Yu, Meiping Lu

Pediatr Rheumatol Online J. 2022; 20: 90. Published online 2022 Oct 17. doi: 10.1186/s12969-022-00728-0

PMCID:: PMC9575291

Abstract Article PDF–829K

Select item 91978529.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

Elifcan Taşdelen, Daniel G. Calame, Gulsen Akay, Tadahiro Mitani, Jawid M. Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N. Jhangiani, Jennifer E. Posey, Richard A. Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan

Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Am J Med Genet A. 2022 Jul; 188(7): 2153–2161. Published online 2022 Mar 24. doi: 10.1002/ajmg.a.62727

PMCID:: PMC9197852

Abstract Article PDF–633K

Select item 800176010.

Deficiency of Lipin2 Results in Enhanced NF-κB Signaling and Osteoclast Formation in RAW-D Murine Macrophages

Asami Watahiki, Seira Hoshikawa, Mitsuki Chiba, Hiroshi Egusa, Satoshi Fukumoto, Hiroyuki Inuzuka

Int J Mol Sci. 2021 Mar; 22(6): 2893. Published online 2021 Mar 12. doi: 10.3390/ijms22062893

PMCID:: PMC8001760

Abstract Article PDF–16M

Select item 535424211.

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison J. Cox, Benjamin W. Darbro, Ronald M. Laxer, Gabriel Velez, Xinyu Bing, Alexis L. Finer, Albert Erives, Vinit B. Mahajan, Alexander G. Bassuk, Polly J. Ferguson

PLoS One. 2017; 12(3): e0169687. Published online 2017 Mar 16. doi: 10.1371/journal.pone.0169687

Correction in:: PLoS One. 2017; 12(7): e0181222.

PMCID:: PMC5354242

Abstract Article PDF–7.2M

Select item 414030012.

Lipin 2 Binds Phosphatidic Acid by the Electrostatic Hydrogen Bond Switch Mechanism Independent of Phosphorylation

James M. Eaton, Sankeerth Takkellapati, Robert T. Lawrence, Kelley E. McQueeney, Salome Boroda, Garrett R. Mullins, Samantha G. Sherwood, Brian N. Finck, Judit Villén, Thurl E. Harris

J Biol Chem. 2014 Jun 27; 289(26): 18055–18066. Published online 2014 May 8. doi: 10.1074/jbc.M114.547604

PMCID:: PMC4140300

Abstract Article PDF–2.1M

Select item 376978813.

Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

Adriana Almeida De Jesus, Raphaela Goldbach-Mansky

Clin Immunol. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Clin Immunol. 2013 Jun; 147(3): 155–174. Published online 2013 Apr 9. doi: 10.1016/j.clim.2013.03.016

PMCID:: PMC3769788

Abstract Article PDF–621K

Select item 372620214.

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Polly J. Ferguson, Xinyu Bing, Mohammed A. Vasef, Luis A. Ochoa, Amar Mahgoub, Thomas J. Waldschmidt, Lorraine T. Tygrett, Annette J. Schlueter, Hatem El-Shanti

Bone. Author manuscript; available in PMC 2013 Jul 29.

Published in final edited form as: Bone. 2006 Jan; 38(1): 41–47. Published online 2005 Aug 24. doi: 10.1016/j.bone.2005.07.009

PMCID:: PMC3726202

Abstract Article PDF–1.0M

Select item 346386715.

A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome: Description of Two Unrelated Cases From Brazil

Adriana A. Jesus, Mazen Osman, Clovis A. Silva, Peter W. Kim, Tuyet-Hang Pham, Massimo Gadina, Barbara Yang, Débora R. Bertola, Magda Carneiro-Sampaio, Polly J. Ferguson, Blair R. Renshaw, Ken Schooley, Michael Brown, Asma Al-Dosari, Jamil Al-Alami, John E. Sims, Raphaela Goldbach-Mansky, Hatem El-Shanti

Arthritis Rheum. Author manuscript; available in PMC 2012 Oct 4.

Published in final edited form as: Arthritis Rheum. 2011 Dec; 63(12): 4007–4017. doi: 10.1002/art.30588

PMCID:: PMC3463867

Abstract Article PDF–1.5M

Select item 344314516.

Mouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum

Jennifer R. Dwyer, Jimmy Donkor, Peixiang Zhang, Lauren S. Csaki, Laurent Vergnes, Jessica M. Lee, Jay Dewald, David N. Brindley, Elisa Atti, Sotirios Tetradis, Yuko Yoshinaga, Pieter J. De Jong, Loren G. Fong, Stephen G. Young, Karen Reue

Proc Natl Acad Sci U S A. 2012 Sep 11; 109(37): E2486–E2495. Published online 2012 Aug 20. doi: 10.1073/pnas.1205221109

PMCID:: PMC3443145

Abstract Article PDF–1.6M

Select item 287519217.

The Lipin Family: Mutations and Metabolism

Karen Reue

Curr Opin Lipidol. Author manuscript; available in PMC 2010 Jun 1.

Published in final edited form as: Curr Opin Lipidol. 2009 Jun; 20(3): 165–170. doi: 10.1097/MOL.0b013e32832adee5

PMCID:: PMC2875192

Abstract Article PDF–229K

Select item 278562518.

A Conserved Serine Residue Is Required for the Phosphatidate Phosphatase Activity but Not the Transcriptional Coactivator Functions of Lipin-1 and Lipin-2

Jimmy Donkor, Peixiang Zhang, Samantha Wong, Lauren O'Loughlin, Jay Dewald, Bernard P.C. Kok, David N. Brindley, Karen Reue

J Biol Chem. 2009 Oct 23; 284(43): 29968–29978. Published online 2009 Aug 28. doi: 10.1074/jbc.M109.023663

PMCID:: PMC2785625

Abstract Article PDF–3.7M

Select item 448585719.

Ubiquitin-specific proteases are differentially expressed throughout the Schistosoma mansoni life cycle

Roberta V. Pereira, Matheus de S Gomes, Roenick P. Olmo, Daniel M. Souza, Fernanda J. Cabral, Liana K. Jannotti-Passos, Elio H. Baba, Andressa B. P. Andreolli, Vanderlei Rodrigues, William Castro-Borges, Renata Guerra-Sá

Parasit Vectors. 2015; 8: 349. Published online 2015 Jun 26. doi: 10.1186/s13071-015-0957-4

PMCID:: PMC4485857

Abstract Article PDF–3.1M

Select item 1046368920.

Autoinflammatory gene mutations associated with eosinophilia and asthma

Bashayr M. Alotaibi, Raquel Lopez Rodriguez, Carmen Venegas Garrido, Lucia Gonzalez Bravo, Nader Khalidi, Parameswaran Nair

Allergy Asthma Clin Immunol. 2023; 19: 76. Published online 2023 Aug 29. doi: 10.1186/s13223-023-00837-9

PMCID:: PMC10463689

Abstract Article PDF–942K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity