Published in Development on February 01, 2002
Developmental defects and p53 hyperacetylation in Sir2 homolog (SIRT1)-deficient mice. Proc Natl Acad Sci U S A (2003) 9.14
A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment. Proc Natl Acad Sci U S A (2003) 2.07
Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet (2004) 1.99
Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning. Development (2006) 1.86
Vax genes ventralize the embryonic eye. Genes Dev (2005) 1.35
Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure. Proc Natl Acad Sci U S A (2009) 1.22
Transcriptional regulation of neuronal polarity and morphogenesis in the mammalian brain. Neuron (2011) 1.19
The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cup. BMC Dev Biol (2006) 1.19
The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina. RNA (2011) 1.08
Retinoic acid signaling in perioptic mesenchyme represses Wnt signaling via induction of Pitx2 and Dkk2. Dev Biol (2010) 1.02
Bone morphogenetic proteins, eye patterning, and retinocollicular map formation in the mouse. J Neurosci (2008) 1.02
Canonical Wnt signaling is required for the maintenance of dorsal retinal identity. Development (2008) 1.02
Flotillin-mediated endocytic events dictate cell type-specific responses to semaphorin 3A. J Neurosci (2010) 0.99
Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye. Dev Biol (2008) 0.99
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat (2011) 0.95
Characterization of tissue-specific differential DNA methylation suggests distinct modes of positive and negative gene expression regulation. BMC Genomics (2015) 0.95
Ocular phenotype of Fbn2-null mice. Invest Ophthalmol Vis Sci (2013) 0.93
Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci (2013) 0.92
Hedgehog-regulated localization of Vax2 controls eye development. Genes Dev (2006) 0.92
Connecting the retina to the brain. ASN Neuro (2014) 0.90
Loss of Tbx2 delays optic vesicle invagination leading to small optic cups. Dev Biol (2009) 0.89
Meis1 specifies positional information in the retina and tectum to organize the zebrafish visual system. Neural Dev (2010) 0.88
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. Dev Biol (2008) 0.87
Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma. Development (2013) 0.87
Sma- and Mad-related protein 7 (Smad7) is required for embryonic eye development in the mouse. J Biol Chem (2013) 0.84
Intraretinal projection of retinal ganglion cell axons as a model system for studying axon navigation. Brain Res (2007) 0.84
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet (2014) 0.81
Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis. Cell Res (2012) 0.81
Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata. Hum Mol Genet (2013) 0.81
Regulation of cell differentiation by Eph receptor and ephrin signaling. Cell Adh Migr (2014) 0.79
Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure. PLoS One (2012) 0.79
Vax1/2 genes counteract Mitf-induced respecification of the retinal pigment epithelium. PLoS One (2013) 0.78
Smad4 is required predominantly in the developmental processes dependent on the BMP branch of the TGF-β signaling system in the embryonic mouse retina. Invest Ophthalmol Vis Sci (2011) 0.78
Cyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent Pathway. Invest Ophthalmol Vis Sci (2017) 0.75
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report. BMC Med Genet (2015) 0.75
The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye. Dev Biol (2016) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
TFEB links autophagy to lysosomal biogenesis. Science (2011) 8.87
Mapping Wnt/beta-catenin signaling during mouse development and in colorectal tumors. Proc Natl Acad Sci U S A (2003) 7.60
Neurons derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease. Proc Natl Acad Sci U S A (2008) 7.52
A gene network regulating lysosomal biogenesis and function. Science (2009) 7.17
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex. J Neurosci (2005) 6.95
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Direct generation of functional dopaminergic neurons from mouse and human fibroblasts. Nature (2011) 6.21
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J (2012) 5.03
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
The European dimension for the mouse genome mutagenesis program. Nat Genet (2004) 3.84
A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol (2013) 3.13
Tbr2 directs conversion of radial glia into basal precursors and guides neuronal amplification by indirect neurogenesis in the developing neocortex. Neuron (2008) 2.86
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet (2003) 2.83
Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell (2011) 2.71
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell (2003) 2.71
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci (2007) 2.69
FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet (2008) 2.65
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol (2013) 2.62
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet (2011) 2.60
The meso-angioblast: a multipotent, self-renewing cell that originates from the dorsal aorta and differentiates into most mesodermal tissues. Development (2002) 2.50
Coexpression of CD49b and LAG-3 identifies human and mouse T regulatory type 1 cells. Nat Med (2013) 2.39
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest (2004) 2.30
Site-specific integration and tailoring of cassette design for sustainable gene transfer. Nat Methods (2011) 2.30
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nat Cell Biol (2010) 2.29
MicroRNA target prediction by expression analysis of host genes. Genome Res (2008) 2.21
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet (2002) 2.20
SFRP1 regulates the growth of retinal ganglion cell axons through the Fz2 receptor. Nat Neurosci (2005) 2.19
UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res (2009) 2.11
Identification and characterization of microRNAs expressed in the mouse eye. Invest Ophthalmol Vis Sci (2007) 2.05
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors. J Virol (2007) 2.05
The simultaneous loss of Arx and Pax4 genes promotes a somatostatin-producing cell fate specification at the expense of the alpha- and beta-cell lineages in the mouse endocrine pancreas. Development (2005) 1.98
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol (2003) 1.95
Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nat Cell Biol (2015) 1.88
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology (2013) 1.85
Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism. Dev Biol (2006) 1.84
Eye development: a view from the retina pigmented epithelium. Bioessays (2004) 1.79
Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy. Sci Transl Med (2012) 1.78
Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med (2011) 1.78
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet (2005) 1.72
Rapamycin and interleukin-10 treatment induces T regulatory type 1 cells that mediate antigen-specific transplantation tolerance. Diabetes (2006) 1.65
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Sulfatases and human disease. Annu Rev Genomics Hum Genet (2005) 1.63
Apoptosis in retinal degeneration involves cross-talk between apoptosis-inducing factor (AIF) and caspase-12 and is blocked by calpain inhibitors. Proc Natl Acad Sci U S A (2006) 1.61
Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. BMC Evol Biol (2008) 1.59
miRNeye: a microRNA expression atlas of the mouse eye. BMC Genomics (2010) 1.59
Autophagy in lysosomal storage disorders. Autophagy (2012) 1.59
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. Am J Physiol Cell Physiol (2007) 1.59
Epidermal growth factor receptor expression identifies functionally and molecularly distinct tumor-initiating cells in human glioblastoma multiforme and is required for gliomagenesis. Cancer Res (2010) 1.59
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex. Neuron (2010) 1.55
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res (2012) 1.51
Gene signatures distinguish stage-specific prostate cancer stem cells isolated from transgenic adenocarcinoma of the mouse prostate lesions and predict the malignancy of human tumors. Stem Cells Transl Med (2013) 1.50
miR-204 is required for lens and retinal development via Meis2 targeting. Proc Natl Acad Sci U S A (2010) 1.48
Sonic hedgehog in CNS development: one signal, multiple outputs. Trends Neurosci (2002) 1.47
Lysosomal storage diseases as disorders of autophagy. Autophagy (2007) 1.46
Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. Genes Dev (2008) 1.46
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med (2013) 1.44
The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease. Brain (2014) 1.43
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Hum Mol Genet (2008) 1.43
Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons. J Neurosci (2008) 1.41
Phenylethynyl-pyrrolo[1,2-a]pyrazine: a new potent and selective tool in the mGluR5 antagonists arena. Bioorg Med Chem Lett (2008) 1.40
Natural antisense transcripts associated with genes involved in eye development. Hum Mol Genet (2005) 1.40
Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses. J Biol Chem (2011) 1.40
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum Mol Genet (2011) 1.39
Spontaneous formation of L-isoaspartate and gain of function in fibronectin. J Biol Chem (2006) 1.39
TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy (2011) 1.37
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
OTX2 activates the molecular network underlying retina pigment epithelium differentiation. J Biol Chem (2003) 1.36
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J (2010) 1.35
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nat Cell Biol (2012) 1.34
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33
Emerging mechanisms in morphogen-mediated axon guidance. Bioessays (2009) 1.32
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet (2006) 1.32
microRNAs and genetic diseases. Pathogenetics (2009) 1.32
Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. Cell Stem Cell (2011) 1.31
Six3 and Six6 activity is modulated by members of the groucho family. Development (2003) 1.30
The transcription factor encyclopedia. Genome Biol (2012) 1.28
Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH. Development (2006) 1.28
Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice. Development (2003) 1.27
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2008) 1.27
Prospective isolation of functionally distinct radial glial subtypes--lineage and transcriptome analysis. Mol Cell Neurosci (2008) 1.25