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Page 1
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.
Ludwig KU, Ahmed ST, Böhmer AC, Sangani NB, Varghese S, Klamt J, Schuenke H, Gültepe P, Hofmann A, Rubini M, Aldhorae KA, Steegers-Theunissen RP, Rojas-Martinez A, Reiter R, Borck G, Knapp M, Nakatomi M, Graf D, Mangold E, Peters H. Ludwig KU, et al. PLoS Genet. 2016 Mar 11;12(3):e1005914. doi: 10.1371/journal.pgen.1005914. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 26968009 Free PMC article.
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group. Castro-Santos P, et al. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. HLA. 2023. PMID: 37528566
Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25.
Rojas-Martinez A, Reutter H, Chacon-Camacho O, Leon-Cachon RB, Munoz-Jimenez SG, Nowak S, Becker J, Herberz R, Ludwig KU, Paredes-Zenteno M, Arizpe-Cantú A, Raeder S, Herms S, Ortiz-Lopez R, Knapp M, Hoffmann P, Nöthen MM, Mangold E. Rojas-Martinez A, et al. Birth Defects Res A Clin Mol Teratol. 2010 Jul;88(7):535-7. doi: 10.1002/bdra.20689. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20564431
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Mangold E, Reutter H, León-Cachón RB, Ludwig KU, Herms S, Chacón-Camacho Ó, Ortiz-López R, Paredes-Zenteno M, Arizpe-Cantú A, Muñoz-Jiménez SG, Nowak S, Kramer FJ, Wienker TF, Nöthen MM, Knapp M, Rojas-Martínez A. Mangold E, et al. Eur J Oral Sci. 2012 Oct;120(5):373-7. doi: 10.1111/j.1600-0722.2012.00991.x. Epub 2012 Aug 24. Eur J Oral Sci. 2012. PMID: 22984993
Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population.
Ludwig KU, Wahle P, Reutter H, Paredes-Zenteno M, Muñoz-Jimenez SG, Ortiz-Lopez R, Böhmer AC, Tessmann P, Nowak S, Nöthen MM, Knapp M, Rojas-Martinez A, Mangold E. Ludwig KU, et al. Birth Defects Res A Clin Mol Teratol. 2014 Jan;100(1):43-7. doi: 10.1002/bdra.23209. Epub 2013 Dec 31. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24382704
Strong association of variants around FOXE1 and orofacial clefting.
Ludwig KU, Böhmer AC, Rubini M, Mossey PA, Herms S, Nowak S, Reutter H, Alblas MA, Lippke B, Barth S, Paredes-Zenteno M, Muñoz-Jimenez SG, Ortiz-Lopez R, Kreusch T, Hemprich A, Martini M, Braumann B, Jäger A, Pötzsch B, Molloy A, Peterlin B, Hoffmann P, Nöthen MM, Rojas-Martinez A, Knapp M, Steegers-Theunissen RP, Mangold E. Ludwig KU, et al. J Dent Res. 2014 Apr;93(4):376-81. doi: 10.1177/0022034514523987. Epub 2014 Feb 21. J Dent Res. 2014. PMID: 24563486
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
Ludwig KU, Böhmer AC, Bowes J, Nikolic M, Ishorst N, Wyatt N, Hammond NL, Gölz L, Thieme F, Barth S, Schuenke H, Klamt J, Spielmann M, Aldhorae K, Rojas-Martinez A, Nöthen MM, Rada-Iglesias A, Dixon MJ, Knapp M, Mangold E. Ludwig KU, et al. Hum Mol Genet. 2017 Feb 15;26(4):829-842. doi: 10.1093/hmg/ddx012. Hum Mol Genet. 2017. PMID: 28087736 Free PMC article.
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.
Masotti C, Brito LA, Nica AC, Ludwig KU, Nunes K, Savastano CP, Malcher C, Ferreira SG, Kobayashi GS, Bueno DF, Alonso N, Franco D, Rojas-Martinez A, Dos Santos SE, Galante PA, Meyer D, Hünemeier T, Mangold E, Dermitzakis ET, Passos-Bueno MR. Masotti C, et al. J Dent Res. 2018 Jan;97(1):33-40. doi: 10.1177/0022034517735805. Epub 2017 Oct 20. J Dent Res. 2018. PMID: 29053389
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.
van Rooij IA, Ludwig KU, Welzenbach J, Ishorst N, Thonissen M, Galesloot TE, Ongkosuwito E, Bergé SJ, Aldhorae K, Rojas-Martinez A, Kiemeney LA, Vermeesch JR, Brunner H, Roeleveld N, Devriendt K, Dormaar T, Hens G, Knapp M, Carels C, Mangold E. van Rooij IA, et al. Genes (Basel). 2019 Dec 7;10(12):1023. doi: 10.3390/genes10121023. Genes (Basel). 2019. PMID: 31817908 Free PMC article. Clinical Trial.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Thieme F, Henschel L, Hammond NL, Ishorst N, Hausen J, Adamson AD, Biedermann A, Bowes J, Zieger HK, Maj C, Kruse T, Buness A, Hoischen A, Gilissen C, Kreusch T, Jäger A, Gölz L, Braumann B, Aldhorae K, Rojas-Martinez A, Krawitz PM, Mangold E, Dixon MJ, Ludwig KU. Thieme F, et al. Hum Mutat. 2021 Aug;42(8):1066-1078. doi: 10.1002/humu.24219. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34004033
157 results