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Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks.
Vijayalingam S, Ezekiel UR, Xu F, Subramanian T, Geerling E, Hoelscher B, San K, Ganapathy A, Pemberton K, Tycksen E, Pinto AK, Brien JD, Beck DB, Chung WK, Gurnett CA, Chinnadurai G. Vijayalingam S, et al. Among authors: beck db. Front Neurosci. 2020 Oct 27;14:562292. doi: 10.3389/fnins.2020.562292. eCollection 2020. Front Neurosci. 2020. PMID: 33192249 Free PMC article.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM Jr, Verma S, Waggoner D, Shinawi M, Bönnemann CG, Chung WK, Chinnadurai G. Beck DB, et al. Neurogenetics. 2019 Aug;20(3):129-143. doi: 10.1007/s10048-019-00578-1. Epub 2019 Apr 30. Neurogenetics. 2019. PMID: 31041561 Free PMC article.
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B, Labella R, Cuesta-Dominguez A, Luo N, De Angelis J, Mosialou I, Lin CS, Beck D, Lata S, Shyu PT, McMahon DJ, Guo E, Hagen J, Chung WK, Shane E, Cohen A, Kousteni S. Bisikirska B, et al. Sci Transl Med. 2024 Oct 16;16(769):eadj0085. doi: 10.1126/scitranslmed.adj0085. Epub 2024 Oct 16. Sci Transl Med. 2024. PMID: 39413162
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P. Xu Z, et al. Among authors: beck db. Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006. Am J Hum Genet. 2018. PMID: 29979980 Free PMC article.
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.
Oda H, Beck DB, Kuehn HS, Sampaio Moura N, Hoffmann P, Ibarra M, Stoddard J, Tsai WL, Gutierrez-Cruz G, Gadina M, Rosenzweig SD, Kastner DL, Notarangelo LD, Aksentijevich I. Oda H, et al. Among authors: beck db. Front Immunol. 2019 Mar 18;10:479. doi: 10.3389/fimmu.2019.00479. eCollection 2019. Front Immunol. 2019. PMID: 30936877 Free PMC article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: beck d. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: beck db. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
72 results