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