University of Wisconsin–Madison

Aileen (Erickson) Barnes, MS

Biologist, Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, Bethesda, MD

barnesai@mail.nih.gov

Advisor: Dr. Timothy Mulcahy

Graduation: 05/2001

Alumni News

Received the 2007 NIH Director’s Award: Scientific Team from Bone and Extracellular Matrix Branch. See more here.

Publications

  • Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
    Symoens S*, Barnes AM*, Gistelinck C*, Malfait F, Guillemyn B, Steyaert W, Syx D, D’hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ.
    Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.
    PMID: 26365339 [PubMed – indexed for MEDLINE] Free PMC Article
  • Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
    Barnes AM, Duncan G, Weis M, Paton W, Cabral WA, Mertz EL, Makareeva E, Gambello MJ, Lacbawan FL, Leikin S, Fertala A, Eyre DR, Bale SJ, Marini JC.
    Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8.
    PMID: 23712425 [PubMed – indexed for MEDLINE] Free PMC Article
  • Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
    Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC.
    Hum Mutat. 2012 Nov;33(11):1589-98. doi: 10.1002/humu.22139. Epub 2012 Jul 16.
    PMID: 22718341 [PubMed – indexed for MEDLINE] Free PMC Article
  • COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
    Lindahl K*, Barnes AM*, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC.
    Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr PMID: 21344539 [PubMed – indexed for MEDLINE] Free PMC Article
  • Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
    Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC.
    N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20.
    PMID: 20089953 [PubMed – indexed for MEDLINE] Free PMC Article
  • Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
    Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC.
    N Engl J Med. 2006 Dec 28;355(26):2757-64.
    PMID: 17192541 [PubMed – indexed for MEDLINE] Free Article
  • Erickson AM, Nevarea Z, Gipp JJ, Mulcahy RT, 2002, “Identification of a variant antioxidant response element in the promoter of the human glutamate-cysteine ligase modifier subunit gene. Revision of the ARE consensus sequence,” J. Biol. Chem., Vol. 277 p. 30730-30737. PMID: 12070177