PMC Links for Books (Select 5429244) - PMC

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 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 62515164.

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors

Taryn Youngstein, Patrycja Hoffmann, Ahmet Gül, Thirusha Lane, Rene Williams, Dorota M. Rowczenio, Huri Ozdogan, Serdal Ugurlu, John Ryan, Len Harty, Sean Riminton, Alex P. Headley, Joachim Roesler, Norbert Blank, Jasmin B. Kuemmerle-Deschner, Anna Simon, Adrian S. Woolf, Philip N. Hawkins, Helen J. Lachmann

Rheumatology (Oxford) 2017 Dec; 56(12): 2102–2108. Published online 2017 Aug 23. doi: 10.1093/rheumatology/kex305

PMCID:: PMC6251516

Abstract Article PDF–87K

Select item 52948605.

Lipin-2 regulates NLRP3 inflammasome by affecting P2X₇ receptor activation

Gema Lordén, Itziar Sanjuán-García, Nagore de Pablo, Clara Meana, Inés Alvarez-Miguel, M. Teresa Pérez-García, Pablo Pelegrín, Jesús Balsinde, María A. Balboa

J Exp Med. 2017 Feb; 214(2): 511–528. doi: 10.1084/jem.20161452

PMCID:: PMC5294860

Abstract Article PDF–3.0M

Select item 48981896.

Phenotypic variability in Majeed syndrome

Anand Prahalad Rao, Dharmanand Balebail Gopalakrishna, Xinyu Bing, Polly J. Ferguson

J Rheumatol. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: J Rheumatol. 2016 Jun; 43(6): 1258–1259. doi: 10.3899/jrheum.151193

PMCID:: PMC4898189

Article PDF–353K

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

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