Erica E. Davis

Center for Human Disease Modeling, Duke University Medical Center

Affiliated withDuke University Medical Center

Research Area

Biology

Biography

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JoVE Journal Publications

Article Total : 1	Year
Publication title	2013

Other Publications

Article	Year
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature genetics\| PubMed ID: 16582908	2006
The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Developmental cell\| PubMed ID: 16824949	2006
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nature genetics\| PubMed ID: 16940995	2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. American journal of human genetics\| PubMed ID: 17160889	2007
Cell polarization defects in early heart development. Circulation research\| PubMed ID: 17641235	2007
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature genetics\| PubMed ID: 18327255	2008
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. PLoS genetics\| PubMed ID: 18369462	2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. American journal of human genetics\| PubMed ID: 18950740	2008
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. Journal of cell science\| PubMed ID: 19208769	2009
The vertebrate primary cilium in development, homeostasis, and disease. Cell\| PubMed ID: 19345185	2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature genetics\| PubMed ID: 19430481	2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 19666486	2009
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. The Journal of clinical investigation\| PubMed ID: 20179356	2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature genetics\| PubMed ID: 20512146	2010
Pitchfork regulates primary cilia disassembly and left-right asymmetry. Developmental cell\| PubMed ID: 20643351	2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Human genetics\| PubMed ID: 21052717	2011
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nature genetics\| PubMed ID: 21131972	2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature genetics\| PubMed ID: 21258341	2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature genetics\| PubMed ID: 21552264	2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. American journal of human genetics\| PubMed ID: 22152675	2011
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.)\| PubMed ID: 22282472	2012
OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of medical genetics\| PubMed ID: 22577225	2012
The ciliopathies: a transitional model into systems biology of human genetic disease. Current opinion in genetics & development\| PubMed ID: 22632799	2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature medicine\| PubMed ID: 22941275	2012
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration. PloS one\| PubMed ID: 23577150	2013
Mutations in LRRC50 predispose zebrafish and humans to seminomas. PLoS genetics\| PubMed ID: 23599692	2013
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities. American journal of human genetics\| PubMed ID: 23810381	2013
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry. American journal of human genetics\| PubMed ID: 23849778	2013