Published in Gene on April 08, 2010
Alström syndrome: genetics and clinical overview. Curr Genomics (2011) 1.91
Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol (2010) 1.25
Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy. Clin Cancer Res (2012) 1.22
RFX2 is broadly required for ciliogenesis during vertebrate development. Dev Biol (2011) 1.06
Regulatory Factor X (RFX)-mediated transcriptional rewiring of ciliary genes in animals. Proc Natl Acad Sci U S A (2010) 1.02
Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes. Dev Biol (2011) 0.95
Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev (2015) 0.86
Upstream stimulatory factors 1 and 2 mediate the transcription of angiotensin II binding and inhibitory protein. J Biol Chem (2013) 0.80
Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs. FASEB J (2016) 0.76
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. PLoS One (2017) 0.75
Rapid detection of octamer binding proteins with 'mini-extracts', prepared from a small number of cells. Nucleic Acids Res (1989) 22.73
RNA maps reveal new RNA classes and a possible function for pervasive transcription. Science (2007) 18.59
Genome-wide analysis of mammalian promoter architecture and evolution. Nat Genet (2006) 17.19
The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet (2006) 9.56
Proteomic characterization of the human centrosome by protein correlation profiling. Nature (2003) 8.74
Cap analysis gene expression for high-throughput analysis of transcriptional starting point and identification of promoter usage. Proc Natl Acad Sci U S A (2003) 8.73
Post-transcriptional processing generates a diversity of 5'-modified long and short RNAs. Nature (2009) 6.88
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature (2003) 5.96
Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol (2007) 3.88
A tale of three fingers: the family of mammalian Sp/XKLF transcription factors. Nucleic Acids Res (1999) 3.68
The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol (2001) 3.14
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet (2002) 2.91
New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med (2005) 2.74
Sp1: emerging roles--beyond constitutive activation of TATA-less housekeeping genes. Biochem Biophys Res Commun (2008) 2.68
The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans. Mol Cell (2000) 2.58
Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. Nature (2000) 2.57
CAGE Basic/Analysis Databases: the CAGE resource for comprehensive promoter analysis. Nucleic Acids Res (2006) 2.54
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet (2002) 2.50
Analysis of xbx genes in C. elegans. Development (2005) 2.39
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl (1959) 2.24
Drosophila regulatory factor X is necessary for ciliated sensory neuron differentiation. Development (2002) 2.17
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes (2005) 2.11
The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Development (2001) 2.01
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet (2006) 1.90
The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. Mol Cell Biol (2004) 1.87
Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet (2005) 1.77
RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom. Nucleic Acids Res (1996) 1.71
RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. Mol Cell Biol (1994) 1.66
Identification and characterization of novel human tissue-specific RFX transcription factors. BMC Evol Biol (2008) 1.62
A cross-talk between hypoxia and TGF-beta orchestrates erythropoietin gene regulation through SP1 and Smads. J Mol Biol (2004) 1.34
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A (2009) 1.33
Identification of novel regulatory factor X (RFX) target genes by comparative genomics in Drosophila species. Genome Biol (2007) 1.28
Characterization of primary cilia and Hedgehog signaling during development of the human pancreas and in human pancreatic duct cancer cell lines. Dev Dyn (2008) 1.27
Novel function of the ciliogenic transcription factor RFX3 in development of the endocrine pancreas. Diabetes (2007) 1.25
A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells. Eur J Neurosci (2006) 1.21
Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin-5 receptor alpha promoter through activation and repression domains. Mol Cell Biol (1999) 1.09
RFX2 is a candidate downstream amplifier of A-MYB regulation in mouse spermatogenesis. BMC Dev Biol (2009) 1.05
Microarray-based discovery of highly expressed olfactory mucosal genes: potential roles in the various functions of the olfactory system. Physiol Genomics (2003) 0.99
The transcriptional activation and repression domains of RFX1, a context-dependent regulator, can mutually neutralize their activities. Nucleic Acids Res (1997) 0.96
Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity. Int J Mol Med (2008) 0.91
Regulatory factor X2 (RFX2) binds to the H1t/TE1 promoter element and activates transcription of the testis-specific histone H1t gene. J Cell Biochem (2004) 0.91
Differential expression of Rfx1-4 during mouse spermatogenesis. Gene Expr Patterns (2009) 0.91
Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrest. Nucleic Acids Res (2006) 0.76
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet (2002) 2.50
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat (2007) 2.20
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes (2005) 2.11
Steroidogenic factor 1: an essential mediator of endocrine development. Recent Prog Horm Res (2002) 1.93
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes (2008) 1.88
Hypoxia inducible factors regulate pluripotency and proliferation in human embryonic stem cells cultured at reduced oxygen tensions. Reproduction (2010) 1.86
MicroRNA-155 modulates the pathogen binding ability of dendritic cells (DCs) by down-regulation of DC-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN). J Biol Chem (2009) 1.74
MicroRNA-155 targets SMAD2 and modulates the response of macrophages to transforming growth factor-{beta}. J Biol Chem (2010) 1.67
Assessing the safety of stem cell therapeutics. Cell Stem Cell (2011) 1.60
MicroRNAs and respiratory diseases. Eur Respir J (2012) 1.59
Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II. J Biol Chem (2002) 1.49
The interleukin 13 (IL-13) pathway in human macrophages is modulated by microRNA-155 via direct targeting of interleukin 13 receptor alpha1 (IL13Ralpha1). J Biol Chem (2010) 1.44
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Characterization and multipotentiality of human fetal femur-derived cells: implications for skeletal tissue regeneration. Stem Cells (2005) 1.23
Development of the human pancreas from foregut to endocrine commitment. Diabetes (2013) 1.21
The soluble form of a disintegrin and metalloprotease 33 promotes angiogenesis: implications for airway remodeling in asthma. J Allergy Clin Immunol (2008) 1.21
Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell (2010) 1.20
Ectopic SOX9 mediates extracellular matrix deposition characteristic of organ fibrosis. J Biol Chem (2008) 1.20
Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med (2009) 1.15
Understanding the role of SOX9 in acquired diseases: lessons from development. Trends Mol Med (2011) 1.14
The early human germ cell lineage does not express SOX2 during in vivo development or upon in vitro culture. Biol Reprod (2008) 1.13
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. Genome Res (2003) 1.12
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J Clin Invest (2006) 1.12
Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Res (2002) 1.10
Osteopontin is a novel downstream target of SOX9 with diagnostic implications for progression of liver fibrosis in humans. Hepatology (2012) 1.09
Tissue-specific knockouts of steroidogenic factor 1. Mol Cell Endocrinol (2004) 1.08
ADAM33 expression in asthmatic airways and human embryonic lungs. Am J Respir Crit Care Med (2005) 1.07
Generation of multipotent foregut stem cells from human pluripotent stem cells. Stem Cell Reports (2013) 1.05
Development of a transgenic green fluorescent protein lineage marker for steroidogenic factor 1. Mol Endocrinol (2002) 1.02
Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics (2002) 1.02
Manipulation of in vitro angiogenesis using peptide-coated gold nanoparticles. ACS Nano (2013) 1.00
RUNX/AML and C/EBP factors regulate CD11a integrin expression in myeloid cells through overlapping regulatory elements. Blood (2003) 1.00
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. J Med Genet (2014) 0.98
Weighing up beta-cell mass in mice and humans: self-renewal, progenitors or stem cells? Mol Cell Endocrinol (2008) 0.98
Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation. Am J Respir Cell Mol Biol (2004) 0.98
LRIG2 mutations cause urofacial syndrome. Am J Hum Genet (2013) 0.97
Environmental oxygen tension regulates the energy metabolism and self-renewal of human embryonic stem cells. PLoS One (2013) 0.96
Nek2 localises to the distal portion of the mother centriole/basal body and is required for timely cilium disassembly at the G2/M transition. Eur J Cell Biol (2012) 0.95
BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer. Biochem Soc Trans (2012) 0.95
Interactions of human endothelial cells with gold nanoparticles of different morphologies. Small (2011) 0.95
Inactivation of Six2 in mouse identifies a novel genetic mechanism controlling development and growth of the cranial base. Dev Biol (2010) 0.94
Generating hepatic cell lineages from pluripotent stem cells for drug toxicity screening. Stem Cell Res (2010) 0.94
Hepatic differentiation of murine embryonic stem cells. Exp Cell Res (2002) 0.94
Derivation of human embryonic germ cells: an alternative source of pluripotent stem cells. Stem Cells (2003) 0.93
Proteome-wide analyses of human hepatocytes during differentiation and dedifferentiation. Hepatology (2013) 0.91
In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets. J Endocrinol (2010) 0.91
A novel immunomodulator, FTY-720 reverses existing cardiac hypertrophy and fibrosis from pressure overload by targeting NFAT (nuclear factor of activated T-cells) signaling and periostin. Circ Heart Fail (2013) 0.91
Deoxyribonucleic acid methylation controls cell type-specific expression of steroidogenic factor 1. Endocrinology (2008) 0.89
Regulating the genome surveillance system: miRNAs and the p53 super family. Apoptosis (2010) 0.89
Biocompatibility and osteogenic potential of human fetal femur-derived cells on surface selective laser sintered scaffolds. Acta Biomater (2009) 0.88
Analysis of SOX2 expression in developing human testis and germ cell neoplasia. Int J Dev Biol (2010) 0.88
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet (2011) 0.88
Development of a transgenic green fluorescent protein lineage marker for steroidogenic factor 1. Endocr Res (2002) 0.88
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. Eur J Hum Genet (2009) 0.88
Phenotypic characterization of CD3-7+ cells in developing human intestine and an analysis of their ability to differentiate into T cells. J Immunol (2005) 0.87
Receptor-mediated interactions between colloidal gold nanoparticles and human umbilical vein endothelial cells. Small (2010) 0.87
Phospholamban and sarcolipin are maintained in the endoplasmic reticulum by retrieval from the ER-Golgi intermediate compartment. Cardiovasc Res (2007) 0.86
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11. PLoS One (2012) 0.86
Laser-induced damage and recovery of plasmonically targeted human endothelial cells. Nano Lett (2011) 0.83
Embryonic stem cells to beta-cells by understanding pancreas development. Mol Cell Endocrinol (2008) 0.83
Human embryonic germ cells for future neuronal replacement therapy. Brain Res Bull (2005) 0.83
Evidence for reciliation of RPE1 cells in late G1 phase, and ciliary localisation of cyclin B1. FEBS Open Bio (2013) 0.83
Evaluating human embryonic germ cells: concord and conflict as pluripotent stem cells. Stem Cells (2005) 0.83
Induction of a disintegrin and metalloprotease 33 during embryonic lung development and the influence of IL-13 or maternal allergy. J Allergy Clin Immunol (2009) 0.82
Lumican is down-regulated in cells expressing endoglin. Evidence for an inverse correlationship between Endoglin and Lumican expression. Matrix Biol (2004) 0.82
The heat is on with TAC1. Nat Cell Biol (2004) 0.81