PMC Articles for MedGen (Select 899946) - PMC

Select item 89956801.

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report

Philip Broser, Ursula von Mengershausen, Katrin Heldt, Deborah Bartholdi, Dominique Braun, Christine Wolf, Min Ae Lee-Kirsch

Pediatr Rheumatol Online J. 2022; 20: 24. Published online 2022 Apr 11. doi: 10.1186/s12969-022-00686-7

PMCID:: PMC8995680

Abstract Article PDF–1.1M

Select item 84713112.

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders

Daniel A. Balikov, Adam Jacobson, Lev Prasov

Genes (Basel) 2021 Sep; 12(9): 1403. Published online 2021 Sep 11. doi: 10.3390/genes12091403

PMCID:: PMC8471311

Abstract Article PDF–392K

Select item 74571493.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura A. Adang, Loveline A. Ayuk, Lien Van Eyck, Luis Seabra, Christophe Barrea, Roberta Battini, Alexandre Belot, Stefan Berg, Thierry Billette de Villemeur, Annette E. Bley, Lubov Blumkin, Odile Boespflug-Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darin, François-Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Heron, Delphine Heron, Diedre A. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Marti, Cyril Mignot, Fanny Mochel, Marie-Christine Nougues, Ilena Oppermann, Belén Pérez-Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, Cia Sharpe, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomas Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum J. Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline L. Vanderver, Sun Hur, Yanick J. Crow

Hum Mutat. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Hum Mutat. 2020 Apr; 41(4): 837–849. Published online 2020 Jan 14. doi: 10.1002/humu.23975

PMCID:: PMC7457149

Abstract Article PDF–795K

Select item 63945454.

DDX58 and Classic Singleton-Merten Syndrome

Carlos R. Ferreira, Yanick J. Crow, William A. Gahl, Pamela J. Gardner, Raphaela Goldbach-Mansky, Sun Hur, Adriana Almeida de Jesús, Michele Nehrebecky, Ji Woo Park, Tracy A. Briggs

J Clin Immunol. 2019; 39(1): 75–80. Published online 2018 Dec 20. doi: 10.1007/s10875-018-0572-1

PMCID:: PMC6394545

Abstract Article PDF–3.1M

Select item 59714405.

A GTPase-activating protein–binding protein (G3BP1)/antiviral protein relay conveys arteriosclerotic Wnt signals in aortic smooth muscle cells

Bindu Ramachandran, John N. Stabley, Su-Li Cheng, Abraham S. Behrmann, Austin Gay, Li Li, Megan Mead, Julia Kozlitina, Andrew Lemoff, Hamid Mirzaei, Zhijian Chen, Dwight A. Towler

J Biol Chem. 2018 May 25; 293(21): 7942–7968. Published online 2018 Apr 6. doi: 10.1074/jbc.RA118.002046

PMCID:: PMC5971440

Abstract Article PDF–7.7M

Select item 54394076.

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

Insa Buers, Gillian I. Rice, Yanick J. Crow, Frank Rutsch

J Interferon Cytokine Res. 2017 May 1; 37(5): 214–219. Published online 2017 May 1. doi: 10.1089/jir.2017.0004

PMCID:: PMC5439407

Abstract Article PDF–404K

Select item 48932747.

Type I interferonopathies in pediatric rheumatology

Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno

Pediatr Rheumatol Online J. 2016; 14: 35. Published online 2016 Jun 4. doi: 10.1186/s12969-016-0094-4

PMCID:: PMC4893274

Abstract Article PDF–1.3M

Select item 47458918.

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi–Goutières and Singleton–Merten syndromes

A.-C. Bursztejn, T.A. Briggs, Y. del Toro Duany, B.H. Anderson, J. O’Sullivan, S.G. Williams, C. Bodemer, S. Fraitag, F. Gebhard, B. Leheup, I. Lemelle, A. Oojageer, E. Raffo, E. Schmitt, G.I. Rice, S. Hur, Y.J. Crow

Br J Dermatol. Author manuscript; available in PMC 2016 Feb 8.

Published in final edited form as: Br J Dermatol. 2015 Dec; 173(6): 1505–1513. Published online 2015 Oct 29. doi: 10.1111/bjd.14073

PMCID:: PMC4745891

Abstract Article PDF–512K

Select item 43202639.

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian I. Rice, Heidi Erlandsen, Hans Gerd Kehl, Holger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick J. Crow, Annette Feigenbaum, Raoul C. Hennekam

Am J Hum Genet. 2015 Feb 5; 96(2): 275–282. doi: 10.1016/j.ajhg.2014.12.014

PMCID:: PMC4320263

Abstract Article PDF–1.9M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity