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Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.
Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak JR, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG. Sowers LP, et al. Among authors: darbro bw. Mol Psychiatry. 2013 Oct;18(10):1077-89. doi: 10.1038/mp.2013.71. Epub 2013 May 28. Mol Psychiatry. 2013. PMID: 23711981 Free PMC article.
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. Paemka L, et al. Among authors: darbro bw. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PLoS One. 2013. PMID: 24312498 Free PMC article.
The heritability of metabolite concentrations in stored human red blood cells.
van 't Erve TJ, Wagner BA, Martin SM, Knudson CM, Blendowski R, Keaton M, Holt T, Hess JR, Buettner GR, Ryckman KK, Darbro BW, Murray JC, Raife TJ. van 't Erve TJ, et al. Among authors: darbro bw. Transfusion. 2014 Aug;54(8):2055-63. doi: 10.1111/trf.12605. Epub 2014 Mar 6. Transfusion. 2014. PMID: 24601981 Free PMC article.
Heritability of glutathione and related metabolites in stored red blood cells.
van 't Erve TJ, Doskey CM, Wagner BA, Hess JR, Darbro BW, Ryckman KK, Murray JC, Raife TJ, Buettner GR. van 't Erve TJ, et al. Among authors: darbro bw. Free Radic Biol Med. 2014 Nov;76:107-13. doi: 10.1016/j.freeradbiomed.2014.07.040. Epub 2014 Aug 7. Free Radic Biol Med. 2014. PMID: 25108189 Free PMC article.
The heritability of hemolysis in stored human red blood cells.
Van 't Erve TJ, Wagner BA, Martin SM, Knudson CM, Blendowski R, Keaton M, Holt T, Hess JR, Buettner GR, Ryckman KK, Darbro BW, Murray JC, Raife TJ. Van 't Erve TJ, et al. Among authors: darbro bw. Transfusion. 2015 Jun;55(6):1178-85. doi: 10.1111/trf.12992. Epub 2015 Feb 2. Transfusion. 2015. PMID: 25644965 Free PMC article.
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Paemka L, et al. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25763846 Free PMC article.
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR. Brophy PD, et al. Among authors: darbro bw. Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24. Genetics. 2017. PMID: 28739660 Free PMC article.
86 results