Merrill AE - Search Results

1

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

Zieba J, Forlenza KN, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Cohn DH, Merrill AE, Krakow D. Zieba J, et al. Among authors: merrill ae. PLoS Genet. 2016 Mar 28;12(3):e1005936. doi: 10.1371/journal.pgen.1005936. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27019229 Free PMC article.

2

A phylogenetically conserved cis-regulatory module in the Msx2 promoter is sufficient for BMP-dependent transcription in murine and Drosophila embryos.

Brugger SM, Merrill AE, Torres-Vazquez J, Wu N, Ting MC, Cho JY, Dobias SL, Yi SE, Lyons K, Bell JR, Arora K, Warrior R, Maxson R. Brugger SM, et al. Among authors: merrill ae. Development. 2004 Oct;131(20):5153-65. doi: 10.1242/dev.01390. Development. 2004. PMID: 15459107

3

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr. Merrill AE, et al. Hum Mol Genet. 2006 Apr 15;15(8):1319-28. doi: 10.1093/hmg/ddl052. Epub 2006 Mar 15. Hum Mol Genet. 2006. PMID: 16540516

4

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.

5

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. Merrill AE, et al. Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387015 Free PMC article.

6

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.

Neben CL, Idoni B, Salva JE, Tuzon CT, Rice JC, Krakow D, Merrill AE. Neben CL, et al. Among authors: merrill ae. Hum Mol Genet. 2014 Nov 1;23(21):5659-71. doi: 10.1093/hmg/ddu282. Epub 2014 Jun 6. Hum Mol Genet. 2014. PMID: 24908667 Free PMC article.

7

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Krakow D, et al. Among authors: merrill ae. Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240702 Free PMC article.

8

A requirement for Fgfr2 in middle ear development.

Rigueur D, Roberts RR, Bobzin L, Merrill AE. Rigueur D, et al. Among authors: merrill ae. Genesis. 2019 Jan;57(1):e23252. doi: 10.1002/dvg.23252. Epub 2018 Oct 4. Genesis. 2019. PMID: 30253032 Free PMC article.

9

Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease.

Tuzon CT, Rigueur D, Merrill AE. Tuzon CT, et al. Among authors: merrill ae. Curr Osteoporos Rep. 2019 Jun;17(3):138-146. doi: 10.1007/s11914-019-00512-2. Curr Osteoporos Rep. 2019. PMID: 30982184 Free PMC article. Review.

10

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: merrill ae. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.

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