Published in Genetics on December 01, 2001
Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays (2004) 1.96
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. PLoS Genet (2008) 1.59
Regulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens. Int J Dev Biol (2004) 1.20
The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin αA. Neuron (2010) 1.16
Combinatorial regulation of optic cup progenitor cell fate by SOX2 and PAX6. Development (2011) 1.15
Precocious retinal neurons: Pax6 controls timing of differentiation and determination of cell type. Dev Biol (2005) 1.11
Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus. Genetics (2008) 1.09
Variations of eye size parameters among different strains of mice. Mamm Genome (2006) 1.09
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. Proc Natl Acad Sci U S A (2002) 1.08
Relative roles of the different Pax6 domains for pancreatic alpha cell development. BMC Dev Biol (2010) 1.02
The proliferation and expansion of retinal stem cells require functional Pax6. Dev Biol (2007) 0.98
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease. Mamm Genome (2007) 0.92
Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation. Development (2013) 0.91
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. Dev Biol (2015) 0.87
The Pax6b homeodomain is dispensable for pancreatic endocrine cell differentiation in zebrafish. J Biol Chem (2010) 0.84
Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms. Genetics (2004) 0.84
Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes. Genetics (2009) 0.83
Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204. Mol Vis (2014) 0.81
Mutational analysis of the eyeless gene and phenotypic rescue reveal that an intact Eyeless protein is necessary for normal eye and brain development in Drosophila. Dev Biol (2009) 0.80
An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes. J Biol Chem (2013) 0.80
Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon. Mol Vis (2013) 0.78
Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos. Sci Rep (2017) 0.75
Analysis of compound heterozygotes reveals that the mouse floxed Pax6 (tm1Ued) allele produces abnormal eye phenotypes. Transgenic Res (2016) 0.75
Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia. Mol Vis (2007) 0.75
The Pax gene family: Highlights from cephalopods. PLoS One (2017) 0.75
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell (1986) 42.45
An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res (1987) 36.83
Differential transcriptional activation by Oct-1 and Oct-2: interdependent activation domains induce Oct-2 phosphorylation. Cell (1990) 8.11
Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions. Cell (1990) 7.99
Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature (1992) 6.32
DNA specificity of the bicoid activator protein is determined by homeodomain recognition helix residue 9. Cell (1989) 5.89
Pax-6, a murine paired box gene, is expressed in the developing CNS. Development (1991) 5.49
Homeodomain-DNA recognition. Cell (1994) 4.68
Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature (1997) 4.58
A Macintosh program for storage and analysis of experimental genetic mapping data. Mamm Genome (1993) 4.43
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet (1994) 4.38
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet (1992) 3.95
Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet (2000) 3.92
A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat Genet (2000) 3.63
Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev (1998) 3.49
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet (1994) 3.38
The human PAX6 gene is mutated in two patients with aniridia. Nat Genet (1992) 3.37
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell (1996) 3.01
The role of Pax-6 in eye and nasal development. Development (1995) 3.00
Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev (1994) 2.99
Pax6 controls radial glia differentiation in the cerebral cortex. Neuron (1998) 2.78
High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA. Cell (1995) 2.78
DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5). Mol Cell Biol (1995) 2.69
Cooperative dimerization of paired class homeo domains on DNA. Genes Dev (1993) 2.66
Nuclear magnetic resonance solution structure of the fushi tarazu homeodomain from Drosophila and comparison with the Antennapedia homeodomain. J Mol Biol (1994) 2.43
Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. J Embryol Exp Morphol (1986) 1.98
Forebrain patterning defects in Small eye mutant mice. Development (1996) 1.95
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet (1999) 1.86
PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet (1996) 1.76
Pax6 modulates the dorsoventral patterning of the mammalian telencephalon. J Neurosci (2000) 1.74
Direct regulation of rhodopsin 1 by Pax-6/eyeless in Drosophila: evidence for a conserved function in photoreceptors. Genes Dev (1997) 1.69
Multiple functions for Pax6 in mouse eye and nasal development. Genes Dev (1996) 1.49
Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus. Acta Neuropathol (1993) 1.43
Pax6-dependent regulation of adhesive patterning, R-cadherin expression and boundary formation in developing forebrain. Development (1997) 1.40
A mouse model of the aniridia-Wilms tumor deletion syndrome. Science (1990) 1.38
The Human PAX6 Mutation Database. Nucleic Acids Res (1998) 1.28
Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon. Mech Dev (1997) 1.24
Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities. Development (1988) 1.21
Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development. Proc Natl Acad Sci U S A (1999) 1.21
The transcriptional activator GvpE for the halobacterial gas vesicle genes resembles a basic region leucine-zipper regulatory protein. J Mol Biol (1998) 1.17
Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet (1997) 1.06
The three-dimensional solution structure of the NK-2 homeodomain from Drosophila. J Mol Biol (1995) 1.03
Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat (2000) 1.03
A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res (1983) 1.02
Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. Mamm Genome (2000) 0.98
Pax6 is implicated in murine pituitary endocrine function. Endocrine (1999) 0.96
Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice. J Anat (1995) 0.95
The frequency of dominant cataract and recessive specific-locus mutations and mutation mosaics in F1 mice derived from post-spermatogonial treatment with ethylnitrosourea. Mutat Res (1990) 0.92
Further genetic analysis of two autosomal dominant mouse eye defects, Ccw and Pax6(coop). Mol Vis (2000) 0.87
Genetic mosaicism in the house mouse. Annu Rev Genet (1994) 0.83
The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion. Mamm Genome (1997) 0.83
The frequency of dominant cataract and recessive specific-locus mutations in mice derived from 80 or 160 mg ethylnitrosourea per kg body weight treated spermatogonia. Mutat Res (1986) 0.81
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet (2000) 3.64
Homodimer formation of retinoid X receptor induced by 9-cis retinoic acid. Nature (1992) 3.39
Proposal for a classification of oocytes and follicles in the mouse ovary. J Reprod Fertil (1968) 3.38
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet (1999) 3.24
Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell (1997) 3.08
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet (2000) 3.06
Transcriptional response to hypoxia in human tumors. J Natl Cancer Inst (2001) 2.44
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet (2001) 2.43
Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. EMBO J (1995) 2.38
Cathepsin L deficiency as molecular defect of furless: hyperproliferation of keratinocytes and pertubation of hair follicle cycling. FASEB J (2000) 2.09
The development of the mouse ovary from birth to maturity. Acta Endocrinol (Copenh) (1969) 2.02
COUP orphan receptors are negative regulators of retinoic acid response pathways. Mol Cell Biol (1992) 1.94
Kidney size in childhood. Sonographical growth charts for kidney length and volume. Pediatr Radiol (1985) 1.92
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci U S A (1996) 1.77
Analysis of estrogen receptor function in vitro reveals three distinct classes of antiestrogens. Mol Endocrinol (1995) 1.75
Hepatitis B in chronic kidney disease: moving toward effective prevention. Kidney Int (2008) 1.66
Dynamics of intracellular movement and nucleocytoplasmic recycling of the ligand-activated androgen receptor in living cells. Mol Endocrinol (2000) 1.50
Sexual dimorphism in the liver. Annu Rev Physiol (1983) 1.50
A retinoic acid receptor-specific element controls the retinoic acid receptor-beta promoter. Mol Endocrinol (1990) 1.43
Identification of the putative mammalian orthologue of Sec31P, a component of the COPII coat. J Cell Sci (1999) 1.42
A dimeric DNA interface stabilized by stacked A.(G.G.G.G).A hexads and coordinated monovalent cations. J Mol Biol (2000) 1.42
[Passive smoking. Concentrations of smoke constituents in the air of large and small rooms as a function of number of cigarettes smoked and time]. Int Arch Arbeitsmed (1972) 1.41
Novel pathway for thyroid hormone receptor action through interaction with jun and fos oncogene activities. Mol Cell Biol (1991) 1.41
A randomized, prospective trial of stapled lung reduction versus laser bullectomy for diffuse emphysema. J Thorac Cardiovasc Surg (1996) 1.41
Local and systemic delivery of low molecular weight heparin following PTCA: acute results and 6-month follow-up of the initial clinical experience with the porous balloon (PILOT-study). Preliminary Investigation of Local Therapy Using Porous PTCA Balloons. Cathet Cardiovasc Diagn (1998) 1.40
[What is the recurrence rate for Basedow's disease treated with thyrostatic agents. Answers from a prospective study]. Schweiz Med Wochenschr (1990) 1.39
Role of redox-regulated transcription factors in inflammation, aging and age-related diseases. Exp Gerontol (2000) 1.38
Overexpression of telomerase confers growth advantage, stress resistance, and enhanced differentiation of ESCs toward the hematopoietic lineage. Stem Cells (2005) 1.38
Dimerization of HIV-1 genomic RNA of subtypes A and B: RNA loop structure and magnesium binding. RNA (1999) 1.37
Cardiovascular phenotyping of fetal mice by noninvasive high-frequency ultrasound facilitates recovery of ENU-induced mutations causing congenital cardiac and extracardiac defects. Physiol Genomics (2005) 1.35
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Hum Mol Genet (1998) 1.35
Origin of follicle cells in the infant mouse ovary. Fertil Steril (1967) 1.34
Regulation of androgen action. Vitam Horm (1999) 1.34
Enzyme-linked immunosorbent assay for detection of T-2 toxin. Hoppe Seylers Z Physiol Chem (1982) 1.33
Comparative analysis of invertible DNA in phage genomes. Cold Spring Harb Symp Quant Biol (1984) 1.33
The gene for cherubism maps to chromosome 4p16. Am J Hum Genet (1999) 1.32
Hydroxyl radical footprint analysis of human immunodeficiency virus reverse transcriptase-template.primer complexes. Proc Natl Acad Sci U S A (1993) 1.32
Translation and stability of rat liver messenger RNA for alpha 2 mu-globulin in Xenopus oocyte. The role of terminal poly(A). J Biol Chem (1979) 1.30
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab (2006) 1.29
Charge-related alterations of the cerebral endothelium. Lab Invest (1983) 1.27
Deciphering RNA recognition: aminoglycoside binding to the hammerhead ribozyme. Chem Biol (1998) 1.26
Phenotypic features of smooth muscle cells during the evolution of experimental carotid artery intimal thickening. Biochemical and morphologic studies. Lab Invest (1991) 1.25
Recombinant immunoblot in the serodiagnosis of Lyme borreliosis. Comparison with indirect immunofluorescence and enzyme-linked immunosorbent assay. Med Microbiol Immunol (1993) 1.25
Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data. Oncogene (2007) 1.24
A high-resolution reference map for cytoplasmic and membrane-associated proteins of Corynebacterium glutamicum. Electrophoresis (2001) 1.24
Fracture faces of cell junctions in cerebral endothelium during normal and hyperosmotic conditions. Lab Invest (1984) 1.24
The adipocyte specific transcription factor C/EBPalpha modulates human ob gene expression. Proc Natl Acad Sci U S A (1996) 1.23
Formation of retinoid X receptor homodimers leads to repression of T3 response: hormonal cross talk by ligand-induced squelching. Mol Cell Biol (1993) 1.22
Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency. Proc Natl Acad Sci U S A (1998) 1.22
Dehydroepiandrosterone sulfotransferase gene induction by bile acid activated farnesoid X receptor. J Biol Chem (2001) 1.20
Migration of gonocytes into the mammalian gonad and their differentiation. Philos Trans R Soc Lond B Biol Sci (1970) 1.19
Follicular growth: the basic event in the mouse and human ovary. J Reprod Fertil (1975) 1.19
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am J Med Genet (2002) 1.17
Nuclear retinoic acid receptors: cloning, analysis, and function. Methods Enzymol (1990) 1.17
The transcriptional activator GvpE for the halobacterial gas vesicle genes resembles a basic region leucine-zipper regulatory protein. J Mol Biol (1998) 1.17
Nuclear factor kappa B functions as a negative regulator for the rat androgen receptor gene and NF-kappa B activity increases during the age-dependent desensitization of the liver. J Biol Chem (1995) 1.17
The human estrogen receptor has transcriptional activator and repressor functions in the absence of ligand. New Biol (1990) 1.16
Aphid transmission of cauliflower mosaic virus requires the viral PIII protein. EMBO J (1999) 1.15
Cell wall receptor for bacteriophage Mu G(+). J Bacteriol (1984) 1.15
Antagonism between retinoic acid receptors. Mol Cell Biol (1991) 1.14
Mutations in the cyclic AMP binding site of the cyclic AMP receptor protein of Escherichia coli. Biochem J (1988) 1.12
Alternative mechanisms for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific. J Cell Sci (1999) 1.12
Peptide-triggered conformational switch in HIV-1 RRE RNA complexes. Nat Struct Biol (2001) 1.11
Reinfection after successful eradication of Helicobacter pylori: a 2-year prospective study in Alaska Natives. Aliment Pharmacol Ther (2006) 1.11
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Proc Natl Acad Sci U S A (1996) 1.10
Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes. Genomics (1998) 1.09
A novel regulatory element associated with age-dependent expression of the rat androgen receptor gene. J Biol Chem (1993) 1.08
Immunocytochemical localization of enterobacterial common antigen in Escherichia coli and Yersinia enterocolitica cells. J Bacteriol (1986) 1.07
Morphological study of the ovaries of leukaemic children. Br J Cancer (1978) 1.07
Increased expression of cytokeratins 8, 18 and vimentin in the invasion front of mucosal squamous cell carcinoma. J Pathol (1993) 1.07
[Entrustable professional activities in the internship]. Chirurg (2014) 1.07
Effect of repetitive icv injections of ANG II on c-Fos and AT(1)-receptor expression in the rat brain. Am J Physiol Regul Integr Comp Physiol (2001) 1.06
Angiotensin II, TGF-beta and renal fibrosis. Contrib Nephrol (2001) 1.06
Androgen receptor: structural domains and functional dynamics after ligand-receptor interaction. Ann N Y Acad Sci (2001) 1.06
Follicular development in the infant human ovary. J Reprod Fertil (1974) 1.05
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet (2004) 1.05
Sigma factor displacement from RNA polymerase during Bacillus subtilis sporulation. J Bacteriol (1999) 1.03
Isoalloxazine derivatives promote photocleavage of natural RNAs at G.U base pairs embedded within helices. Nucleic Acids Res (1997) 1.03
Developmental expression of Pax1/9 genes in urochordate and hemichordate gills: insight into function and evolution of the pharyngeal epithelium. Development (1999) 1.03
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Nat Genet (1995) 1.02
Induction of adipocyte-specific gene expression is correlated with mammary tumor regression by the retinoid X receptor-ligand LGD1069 (targretin). Cancer Res (2000) 1.01
Impact of strain heterogeneity on Lyme disease serology in Europe: comparison of enzyme-linked immunosorbent assays using different species of Borrelia burgdorferi sensu lato. J Clin Microbiol (1998) 1.01
Follicular growth in fetal and prepubertal ovaries of humans and other primates. Clin Endocrinol Metab (1978) 1.00
Influence of irradiation and chemotherapy on the ovaries of children with abdominal tumours. Br J Cancer (1977) 0.99
RNA synthesis in the mouse oocyte. J Cell Biol (1974) 0.99
Temporal variation in the distribution of rotavirus electropherotypes in Delhi, India. J Diarrhoeal Dis Res (1993) 0.99
Hypoxia in a human intracerebral glioma model. J Neurosurg (2000) 0.99
The normal development of the ovary in childhood. Acta Endocrinol (Copenh) (1976) 0.98
Immunochemical studies on a Yersinia enterocolitica O:9 lipopolysaccharide cross-reacting with Brucella abortus and Vibrio cholerae extracts. Ann Microbiol (Paris) (1978) 0.98
Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. Mamm Genome (2000) 0.98
Reversible alteration of hepatic messenger RNA species for peroxisomal and non-peroxisomal proteins induced by the hypolipidaemic drug Wy-14,643. Biochem J (1983) 0.98
Isoleucine uptake in Corynebacterium glutamicum ATCC 13032 is directed by the brnQ gene product. Arch Microbiol (1998) 0.97
Radiation-induced forward and reverse specific locus mutations and dominant cataract mutations in treated strain BALB/c and DBA/2 male mice. Mutat Res (1987) 0.97
Age-dependent increase of heme oxygenase-1 gene expression in the liver mediated by NFkappaB. Mech Ageing Dev (2000) 0.97
Induction of gene mutations in mice: the multiple endpoint approach. Mutat Res (1985) 0.97