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Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Hum Mol Genet. 2022 Dec 16;31(24):4121-4130. doi: 10.1093/hmg/ddac156.
Hum Mol Genet. 2022.
PMID: 35913762
Free PMC article.
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW.
DiStasio A, et al.
Hum Mol Genet. 2017 Dec 15;26(24):4836-4848. doi: 10.1093/hmg/ddx362.
Hum Mol Genet. 2017.
PMID: 29036432
Free PMC article.
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Nubp2 is required for cranial neural crest survival in the mouse.
DiStasio A, Paulding D, Chaturvedi P, Stottmann RW.
DiStasio A, et al.
Dev Biol. 2020 Feb 15;458(2):189-199. doi: 10.1016/j.ydbio.2019.10.039. Epub 2019 Nov 14.
Dev Biol. 2020.
PMID: 31733190
Free PMC article.
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Using human sequencing to guide craniofacial research.
Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW.
Liegel RP, et al.
Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21.
Genesis. 2019.
PMID: 30375152
Free PMC article.
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Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.
Jeruschke S, Jeruschke K, DiStasio A, Karaterzi S, Büscher AK, Nalbant P, Klein-Hitpass L, Hoyer PF, Weiss J, Stottmann RW, Weber S.
Jeruschke S, et al.
PLoS One. 2015 Sep 2;10(9):e0137043. doi: 10.1371/journal.pone.0137043. eCollection 2015.
PLoS One. 2015.
PMID: 26331477
Free PMC article.
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A gene expression atlas of early craniofacial development.
Brunskill EW, Potter AS, Distasio A, Dexheimer P, Plassard A, Aronow BJ, Potter SS.
Brunskill EW, et al.
Dev Biol. 2014 Jul 15;391(2):133-46. doi: 10.1016/j.ydbio.2014.04.016. Epub 2014 Apr 26.
Dev Biol. 2014.
PMID: 24780627
Free PMC article.
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ATP7A-Related Copper Transport Disorders.
Kaler SG, DiStasio AT.
Kaler SG, et al. Among authors: distasio at.
2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301586
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