Published in Am J Hum Genet on July 23, 2009
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet (2012) 1.55
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Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice. J Biol Chem (2007) 1.05
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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet (2000) 0.95
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association. J Hum Genet (2006) 0.89
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am J Hum Genet (2000) 0.87
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DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project. PLoS Biol (2004) 4.96
Comparing genomic expression patterns across species identifies shared transcriptional profile in aging. Nat Genet (2004) 4.77
Weight loss and lipolysis promote a dynamic immune response in murine adipose tissue. J Clin Invest (2010) 4.56
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol (2008) 4.41
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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
Adipose triglyceride lipase contributes to cancer-associated cachexia. Science (2011) 3.70
Evolution of alternative transcriptional circuits with identical logic. Nature (2006) 3.58
The evolution of combinatorial gene regulation in fungi. PLoS Biol (2008) 3.53
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Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis. J Biol Chem (2001) 3.10
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet (2006) 3.03
Cell- and gene-specific regulation of primary target genes by the androgen receptor. Genes Dev (2007) 2.96
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
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Plk1-dependent phosphorylation of FoxM1 regulates a transcriptional programme required for mitotic progression. Nat Cell Biol (2008) 2.68
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Impairment of hepatic growth hormone and glucocorticoid receptor signaling causes steatosis and hepatocellular carcinoma in mice. Hepatology (2011) 2.33
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Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab (2009) 2.19
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Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda. Acta Derm Venereol (2014) 2.00
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Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet (2003) 1.96
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Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet (2003) 1.94
Diabetes and poor outcomes within 6 months after acute ischemic stroke: the China National Stroke Registry. Stroke (2011) 1.91
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet (2002) 1.90
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Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol (2004) 1.85
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Vitamin D induces the antimicrobial protein hCAP18 in human skin. J Invest Dermatol (2005) 1.82
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Indole- and indolizine-glyoxylamides displaying cytotoxicity against multidrug resistant cancer cell lines. Bioorg Med Chem Lett (2008) 1.80
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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet (2003) 1.75
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Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). J Biol Chem (2009) 1.72
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The problem of establishing relationships between hepatic steatosis and hepatic insulin resistance. Cell Metab (2012) 1.66
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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet (2012) 1.55
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol (2003) 1.53
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