Published in Hum Mol Genet on September 23, 2003
The international workshop on meibomian gland dysfunction: report of the subcommittee on anatomy, physiology, and pathophysiology of the meibomian gland. Invest Ophthalmol Vis Sci (2011) 2.44
Modeling recent human evolution in mice by expression of a selected EDAR variant. Cell (2013) 2.17
Analysis of the temporal requirement for eda in hair and sweat gland development. J Invest Dermatol (2008) 1.55
EDA signaling and skin appendage development. Cell Cycle (2006) 1.39
Hair cycle and wound healing in mice with a keratinocyte-restricted deletion of FAK. Oncogene (2006) 1.22
Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis. Cell Death Differ (2011) 1.13
Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci U S A (2006) 1.04
Requirement for Shh and Fox family genes at different stages in sweat gland development. Hum Mol Genet (2009) 1.03
Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands. PLoS One (2009) 1.02
Involvement of the Edar signaling in the control of hair follicle involution (catagen). Am J Pathol (2006) 1.01
Dkk4 and Eda regulate distinctive developmental mechanisms for subtypes of mouse hair. PLoS One (2010) 1.01
X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness. Am J Pathol (2005) 0.99
Bone morphogenetic protein signaling regulates postnatal hair follicle differentiation and cycling. Am J Pathol (2004) 0.98
c-MYC-induced sebaceous gland differentiation is controlled by an androgen receptor/p53 axis. Cell Rep (2013) 0.97
Epidermal patterning and induction of different hair types during mouse embryonic development. Birth Defects Res C Embryo Today (2009) 0.95
Involvement of Wnt, Eda and Shh at defined stages of sweat gland development. Development (2014) 0.91
Molecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodies. J Biol Chem (2011) 0.88
Controlling hair follicle signaling pathways through polyubiquitination. J Invest Dermatol (2008) 0.82
Cutaneous retinoic acid levels determine hair follicle development and downgrowth. J Biol Chem (2012) 0.80
Shh is required for Tabby hair follicle development. Cell Cycle (2011) 0.80
Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and function. J Invest Dermatol (2014) 0.79
Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice. Gene (2008) 0.79
Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia. J Biol Chem (2014) 0.78
Microfluidic Isolation of CD34-Positive Skin Cells Enables Regeneration of Hair and Sebaceous Glands In Vivo. Stem Cells Transl Med (2014) 0.78
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet (2006) 8.19
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet (2010) 4.69
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A (2008) 4.46
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol (2010) 4.08
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Genetic loci influencing kidney function and chronic kidney disease. Nat Genet (2010) 3.75
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation (2011) 3.68
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell (2013) 3.24
AGEMAP: a gene expression database for aging in mice. PLoS Genet (2007) 3.22
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet (2007) 3.21
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet (2007) 2.35
Uncovering early response of gene regulatory networks in ESCs by systematic induction of transcription factors. Cell Stem Cell (2009) 2.32
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet (2004) 2.15
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet (2007) 2.07
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet (2009) 1.87
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet (2009) 1.87
Genetic variants regulating immune cell levels in health and disease. Cell (2013) 1.86
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Hum Genet (2008) 1.77
IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet (2007) 1.77
Transcriptome analysis of mouse stem cells and early embryos. PLoS Biol (2003) 1.75
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny. Science (2013) 1.70
Genome-wide association scan of trait depression. Biol Psychiatry (2010) 1.65
Independent and additive effects of cytokine patterns and the metabolic syndrome on arterial aging in the SardiNIA Study. Atherosclerosis (2010) 1.65
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells. Hum Mol Genet (2007) 1.59
Facets of personality linked to underweight and overweight. Psychosom Med (2009) 1.58
Analysis of the temporal requirement for eda in hair and sweat gland development. J Invest Dermatol (2008) 1.55
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. Am J Med Genet A (2011) 1.51
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics (2007) 1.42
Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int (2011) 1.39
EDA signaling and skin appendage development. Cell Cycle (2006) 1.39
Foxl2 is required for commitment to ovary differentiation. Hum Mol Genet (2005) 1.38
Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association group. J Clin Oncol (2013) 1.35
AGTR2 mutations in X-linked mental retardation. Science (2002) 1.34
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res (2011) 1.28
Cholesterol, triglycerides, and the Five-Factor Model of personality. Biol Psychol (2010) 1.24
Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. Dev Biol (2002) 1.24
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. Hum Mol Genet (2013) 1.23
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development. BMC Dev Biol (2009) 1.23
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. PLoS Genet (2012) 1.23
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet (2008) 1.21
Sex-specific correlates of walking speed in a wide age-ranged population. J Gerontol B Psychol Sci Soc Sci (2010) 1.19
COL4A1 is associated with arterial stiffness by genome-wide association scan. Circ Cardiovasc Genet (2009) 1.16
Personality and metabolic syndrome. Age (Dordr) (2010) 1.15
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest (2005) 1.14
Sequence feature-based prediction of protein stability changes upon amino acid substitutions. BMC Genomics (2010) 1.13
Forkhead transcription factor FoxA1 regulates sweat secretion through Bestrophin 2 anion channel and Na-K-Cl cotransporter 1. Proc Natl Acad Sci U S A (2012) 1.13
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet (2013) 1.12
Generation of mouse ES cell lines engineered for the forced induction of transcription factors. Sci Rep (2011) 1.11
BDNF Val66Met is associated with introversion and interacts with 5-HTTLPR to influence neuroticism. Neuropsychopharmacology (2009) 1.11
Plac8 and Plac9, novel placental-enriched genes identified through microarray analysis. Gene (2003) 1.11
Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis (2013) 1.11
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A (2007) 1.11
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study. Eur Heart J (2009) 1.10
Systematic repression of transcription factors reveals limited patterns of gene expression changes in ES cells. Sci Rep (2013) 1.08
Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Arch Gen Psychiatry (2012) 1.08
Associations of large artery structure and function with adiposity: effects of age, gender, and hypertension. The SardiNIA Study. Atherosclerosis (2011) 1.06
Mouse ovary developmental RNA and protein markers from gene expression profiling. Dev Biol (2005) 1.05
Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci U S A (2006) 1.04
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum Mol Genet (2010) 1.03
Requirement for Shh and Fox family genes at different stages in sweat gland development. Hum Mol Genet (2009) 1.03
Evolutionary diversification of SPANX-N sperm protein gene structure and expression. PLoS One (2007) 1.02