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3,249 results

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Page 1
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: jimenez j. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 Free PMC article.
Activin A forms a non-signaling complex with ACVR1 and type II Activin/BMP receptors via its finger 2 tip loop.
Aykul S, Corpina RA, Goebel EJ, Cunanan CJ, Dimitriou A, Kim HJ, Zhang Q, Rafique A, Leidich R, Wang X, McClain J, Jimenez J, Nannuru KC, Rothman NJ, Lees-Shepard JB, Martinez-Hackert E, Murphy AJ, Thompson TB, Economides AN, Idone V. Aykul S, et al. Among authors: jimenez j. Elife. 2020 Jun 9;9:e54582. doi: 10.7554/eLife.54582. Elife. 2020. PMID: 32515349 Free PMC article.
Activin A does not drive post-traumatic heterotopic ossification.
Hwang C, Pagani CA, Das N, Marini S, Huber AK, Xie L, Jimenez J, Brydges S, Lim WK, Nannuru KC, Murphy AJ, Economides AN, Hatsell SJ, Levi B. Hwang C, et al. Among authors: jimenez j. Bone. 2020 Sep;138:115473. doi: 10.1016/j.bone.2020.115473. Epub 2020 Jun 15. Bone. 2020. PMID: 32553795
ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
Hatsell SJ, Idone V, Wolken DM, Huang L, Kim HJ, Wang L, Wen X, Nannuru KC, Jimenez J, Xie L, Das N, Makhoul G, Chernomorsky R, D'Ambrosio D, Corpina RA, Schoenherr CJ, Feeley K, Yu PB, Yancopoulos GD, Murphy AJ, Economides AN. Hatsell SJ, et al. Among authors: jimenez j. Sci Transl Med. 2015 Sep 2;7(303):303ra137. doi: 10.1126/scitranslmed.aac4358. Sci Transl Med. 2015. PMID: 26333933 Free PMC article.
Deciphering long-term immune effects of HIV-1/SARS-CoV-2 co-infection: a longitudinal study.
Vazquez-Alejo E, De La Sierra Espinar-Buitrago M, Magro-Lopez E, Tarancon-Diez L, Díez C, Bernardino JI, Rull A, De Los Santos I, Alonso R, Zamora A, Jiménez JL, Muñoz-Fernández MÁ. Vazquez-Alejo E, et al. Among authors: jimenez jl. Med Microbiol Immunol. 2024 Dec 26;214(1):4. doi: 10.1007/s00430-024-00813-z. Med Microbiol Immunol. 2024. PMID: 39724280
Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium.
Jordan E, Ni H, Parker P, Kinnamon DD, Owens A, Lowes B, Shenoy C, Martin CM, Judge DP, Fishbein DP, Stoller D, Minami E, Kransdorf E, Smart F, Haas GJ, Huggins GS, Ewald GA, Diamond J, Wilcox JE, Jimenez J, Wang J, Tallaj J, Drazner MH, Hofmeyer M, Wheeler MT, Pinzon OW, Shah P, Gottlieb SS, Katz S, Shore S, Tang WHW, Hershberger RE; DCM Precision Medicine study of the DCM Consortium. Jordan E, et al. Among authors: jimenez j. medRxiv [Preprint]. 2024 Nov 26:2024.11.22.24317816. doi: 10.1101/2024.11.22.24317816. medRxiv. 2024. PMID: 39649582 Free PMC article. Preprint.
3,249 results