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Page 1
Dicer is required for Sertoli cell function and survival.
Kim GJ, Georg I, Scherthan H, Merkenschlager M, Guillou F, Scherer G, Barrionuevo F. Kim GJ, et al. Int J Dev Biol. 2010;54(5):867-75. doi: 10.1387/ijdb.092874gk. Int J Dev Biol. 2010. PMID: 19876815 Free article.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
A large TAT deletion in a tyrosinaemia type II patient.
Legarda M, Wlodarczyk K, Lage S, Andrade F, Kim GJ, Bausch E, Scherer G, Aldamiz-Echevarria LJ. Legarda M, et al. Among authors: kim gj. Mol Genet Metab. 2011 Nov;104(3):407-9. doi: 10.1016/j.ymgme.2011.05.009. Epub 2011 May 16. Mol Genet Metab. 2011. PMID: 21636300
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: kim gj. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Radner FP, et al. Among authors: kim gj. PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754960 Free PMC article.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, Ćomić J, Doğan ÖA, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Ćalışkan S, Weber R, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Wu K, Antony D, Matschkal J, Schaaf C, Renders L, Schmaderer C, Meitinger T, Heemann U, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: kim gj. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. PMID: 36993625 Free PMC article. Updated. Preprint.
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Among authors: kim gj. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.
Tumor Pre-Targeting System Using Streptavidin-Expressing Bacteria.
Kwon SY, You SH, Im JH, Nguyen DH, Kim DY, Pyo A, Kim GJ, Bom HS, Hong Y, Min JJ. Kwon SY, et al. Among authors: kim gj. Mol Imaging Biol. 2024 May 30. doi: 10.1007/s11307-024-01915-z. Online ahead of print. Mol Imaging Biol. 2024. PMID: 38814379
plantMASST - Community-driven chemotaxonomic digitization of plants.
Gomes PWP, Mannochio-Russo H, Schmid R, Zuffa S, Damiani T, Quiros-Guerrero LM, Caraballo-Rodríguez AM, Zhao HN, Yang H, Xing S, Charron-Lamoureux V, Chigumba DN, Sedio BE, Myers JA, Allard PM, Harwood TV, Tamayo-Castillo G, Kang KB, Defossez E, Koolen HHF, da Silva MN, E Silva CYY, Rasmann S, Walker TWN, Glauser G, Chaves-Fallas JM, David B, Kim H, Lee KH, Kim MJ, Choi WJ, Keum YS, de Lima EJSP, de Medeiros LS, Bataglion GA, Costa EV, da Silva FMA, Carvalho ARV, Reis JDE, Pamplona S, Jeong E, Lee K, Kim GJ, Kil YS, Nam JW, Choi H, Han YK, Park SY, Lee KY, Hu C, Dong Y, Sang S, Morrison CR, Borges RM, Teixeira AM, Lee SY, Lee BS, Jeong SY, Kim KH, Rutz A, Gaudry A, Bruelhart E, Kappers IF, Karlova R, Meisenburg M, Berdaguer R, Tello JS, Henderson D, Cayola L, Wright SJ, Allen DN, Anderson-Teixeira KJ, Baltzer JL, Lutz JA, McMahon SM, Parker GG, Parker JD, Northen TR, Bowen BP, Pluskal T, van der Hooft JJJ, Carver JJ, Bandeira N, Pullman BS, Wolfender JL, Kersten RD, Wang M, Dorrestein PC. Gomes PWP, et al. Among authors: kim gj. bioRxiv [Preprint]. 2024 May 14:2024.05.13.593988. doi: 10.1101/2024.05.13.593988. bioRxiv. 2024. PMID: 38798440 Free PMC article. Preprint.
663 results