Published in J Dermatol Sci on July 21, 2010
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A (2013) 0.88
Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions. Nature (2005) 14.65
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature (2010) 2.85
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
The clopidogrel resistance can be attenuated with triple antiplatelet therapy in patients undergoing drug-eluting stents implantation. Int J Cardiol (2008) 2.31
In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril (2013) 2.15
Whole-genome sequencing and intensive analysis of the undomesticated soybean (Glycine soja Sieb. and Zucc.) genome. Proc Natl Acad Sci U S A (2010) 2.15
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet (2008) 2.00
Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med (2005) 1.98
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2008) 1.96
Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril (2010) 1.93
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn (2012) 1.88
Deregulated overexpression of hCdt1 and hCdc6 promotes malignant behavior. Cancer Res (2007) 1.79
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol (2003) 1.72
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood (2008) 1.62
Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch Dermatol (2003) 1.57
Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med (2012) 1.56
Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest (2015) 1.56
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet (2007) 1.55
Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci U S A (2011) 1.54
SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol Hum Reprod (2010) 1.52
Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril (2010) 1.49
Rupture rate for patients with untreated unruptured intracranial aneurysms in South Korea during 2006-2009. J Neurosurg (2012) 1.44
Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. Exp Dermatol (2013) 1.39
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol (2002) 1.35
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature (2010) 1.35
Delta neutrophil index: a promising diagnostic and prognostic marker for sepsis. Shock (2012) 1.31
Microarray analysis for constitutional cytogenetic abnormalities. Genet Med (2007) 1.30
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol (2004) 1.24
Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril (2011) 1.22
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development (2008) 1.20
Epidemiology of Japanese encephalitis in South Korea, 2007-2010. Int J Infect Dis (2012) 1.20
Hair follicle stem cells. J Investig Dermatol Symp Proc (2003) 1.19
The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Dev Biol (2007) 1.18
Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. J Biol Chem (2005) 1.17
Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia. Differentiation (2004) 1.17
Association of BRAFV600E mutation with poor clinical prognostic factors and US features in Korean patients with papillary thyroid microcarcinoma. Radiology (2009) 1.15
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol (2002) 1.15
Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation (2006) 1.14
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet (2008) 1.14
Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature. Cancer Genet Cytogenet (2010) 1.14
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2009) 1.13
Xenobiotic phenols in early pregnancy amniotic fluid. Reprod Toxicol (2005) 1.10
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered (2009) 1.09
A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos. Fertil Steril (2009) 1.09
Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril (2012) 1.09
Resistance to carbapenems in sequence type 11 Klebsiella pneumoniae is related to DHA-1 and loss of OmpK35 and/or OmpK36. J Med Microbiol (2011) 1.08
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet (2005) 1.07
Niche crosstalk: intercellular signals at the hair follicle. Cell (2011) 1.06
The novel gene twenty-four defines a critical translational step in the Drosophila clock. Nature (2011) 1.06
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. J Dermatol Sci (2007) 1.06
Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases. Exp Dermatol (2006) 1.06
CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia. Cancer Genet Cytogenet (2009) 1.05
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics (2012) 1.04
Interspecies dissemination of the bla gene encoding PER-1 extended-spectrum β-lactamase. Antimicrob Agents Chemother (2010) 1.04
Novel molecular therapies for heritable skin disorders. J Invest Dermatol (2011) 1.03
Diagnostic standardization of leukemia fusion gene detection system using multiplex reverse transcriptase-polymerase chain reaction in Korea. J Korean Med Sci (2011) 1.03
Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs). PLoS One (2013) 1.03
Genetic basis of alopecia areata: a roadmap for translational research. Dermatol Clin (2012) 1.03
KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Development (2009) 1.03
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn (2003) 1.02
Microenvironmental reprogramming by three-dimensional culture enables dermal papilla cells to induce de novo human hair-follicle growth. Proc Natl Acad Sci U S A (2013) 1.02
Endovascular coiling versus neurosurgical clipping in patients with unruptured intracranial aneurysm: a systematic review. BMC Neurol (2012) 1.01
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol (2007) 1.01
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol (2006) 1.00
First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril (2002) 1.00
PIG3: a novel link between oxidative stress and DNA damage response in cancer. Cancer Lett (2011) 1.00
Chromosome-encoded AmpC and CTX-M extended-spectrum β-lactamases in clinical isolates of Proteus mirabilis from Korea. Antimicrob Agents Chemother (2011) 0.99
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol (2007) 0.99
Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis. Cancer Genet Cytogenet (2009) 0.99
Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAFV600E mutation in FNAB samples of thyroid nodules in BRAFV600E mutation-prevalent area. Head Neck (2010) 0.98
Primary localized cutaneous amyloidosis: a sign of immune dysregulation? Int J Dermatol (2009) 0.98
Biology and genetics of hair. Annu Rev Genomics Hum Genet (2010) 0.97
Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population. Clin Chem (2003) 0.97
Outbreak of meropenem-resistant Serratia marcescens comediated by chromosomal AmpC beta-lactamase overproduction and outer membrane protein loss. Antimicrob Agents Chemother (2010) 0.97
The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells. Exp Dermatol (2004) 0.96
Acute promyelocytic leukemia relapsing as secondary acute myelogenous leukemia with translocation t(3;21)(q26;q22) and RUNX1-MDS1-EVI1 fusion transcript. Cancer Genet Cytogenet (2008) 0.96
De novo mutations in monilethrix. Exp Dermatol (2003) 0.96
Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn (2007) 0.96
Epidemiological characteristics and molecular basis of fluoroquinolone-resistant Neisseria gonorrhoeae strains isolated in Korea and nearby countries. J Antimicrob Chemother (2004) 0.96
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet (2010) 0.95
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. J Dermatol Sci (2009) 0.95
First report of brain abscess associated with Pseudozyma species in a patient with astrocytoma. Korean J Lab Med (2010) 0.95
BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: potential value of real-time PCR. Ann Clin Lab Sci (2012) 0.95
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet (2011) 0.95
The immediate upstream region of the 5'-UTR from the AUG start codon has a pronounced effect on the translational efficiency in Arabidopsis thaliana. Nucleic Acids Res (2013) 0.94
Loss of hairless confers susceptibility to UVB-induced tumorigenesis via disruption of NF-kappaB signaling. PLoS One (2012) 0.94
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits. Cancer Genet Cytogenet (2009) 0.94