Scholars@Duke
Yutao Liu

Yutao Liu

Adjunct Assistant Professor in the Department of Medicine
Medicine, Medical Genetics
yutao.liu@duke.edu
Duke Box 104775, Durham, NC 27710
905 S. LaSalle St, Rm 2014, GSRB1; DUMC 104775, Durham, NC 27710

Selected Publications

An In Vitro Bovine Cellular Model for Human Schlemm's Canal Endothelial Cells and Their Response to TGFβ Treatment.

Journal Article Transl Vis Sci Technol · June 2020 PURPOSE: Due to the limited availability of primary human Schlemm's canal (SC) endothelial cells, we aimed to develop an in vitro cellular model using the angular aqueous plexus (AAP) cells from bovine eyes. METHODS: We harvested a mixture of cells from th ... Full text Open Access Link to item Cite

Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.

Journal Article Mol Vis · 2020 PURPOSE: Schlemm's canal (SC) endothelial cells derived from donors with or without glaucoma showed different mechanical properties and gene expression. As an important contributor to the regulation of intraocular pressure (IOP) and pathogenesis of primary ... Link to item Cite

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.

Journal Article Sci Rep · December 18, 2019 Keratoconus (KC) is the most common corneal ectatic disorder affecting >300,000 people in the US. KC normally has its onset in adolescence, progressively worsening through the third to fourth decades of life. KC patients report significant impaired vision- ... Full text Link to item Cite

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Journal Article JAMA · November 5, 2019 IMPORTANCE: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudi ... Full text Link to item Cite

Update on the genetics of primary open-angle glaucoma.

Journal Article Exp Eye Res · November 2019 Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated w ... Full text Link to item Cite

Myocilin Mutations in Patients With Normal-Tension Glaucoma.

Journal Article JAMA Ophthalmol · May 1, 2019 IMPORTANCE: Mutations in the myocilin (MYOC) gene are the most common molecularly defined cause of primary open-angle glaucoma that typically occurs in patients with high intraocular pressures (IOP). One MYOC mutation, p.Gln368Ter, has been associated with ... Full text Link to item Cite

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Journal Article Nat Commun · January 8, 2019 Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article. ... Full text Link to item Cite

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Journal Article Commun Biol · 2019 A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influe ... Full text Link to item Cite

Consensus recommendations for trabecular meshwork cell isolation, characterization and culture.

Journal Article Exp Eye Res · June 2018 Cultured trabecular meshwork (TM) cells are a valuable model system to study the cellular mechanisms involved in the regulation of conventional outflow resistance and thus intraocular pressure; and their dysfunction resulting in ocular hypertension. In thi ... Full text Link to item Cite

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas.

Journal Article Invest Ophthalmol Vis Sci · June 1, 2018 PURPOSE: Keratoconus (KC) is the most common corneal ectasia. We aimed to determine the differential expression of coding and long noncoding RNAs (lncRNAs) in human corneas affected with KC. METHODS: From the corneas of 10 KC patients and 8 non-KC healthy ... Full text Open Access Link to item Cite

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Journal Article Nat Commun · May 14, 2018 Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for kn ... Full text Link to item Cite

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.

Journal Article Invest Ophthalmol Vis Sci · May 1, 2018 PURPOSE: To identify genetic risk factors contributing to central corneal thickness (CCT) in individuals from South India, a population with a high prevalence of ocular disorders. METHODS: One hundred ninety-five individuals from 15 large South Indian pedi ... Full text Link to item Cite

Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma.

Journal Article Hum Mol Genet · April 1, 2018 Both exfoliation glaucoma (XFG) and primary open-angle glaucoma (POAG) have been linked to decreased conventional outflow of aqueous humor (AH). To better understand the molecular changes in the AH content under such conditions, we analyzed the miRNA profi ... Full text Link to item Cite

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.

Journal Article Sci Rep · February 15, 2018 Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocula ... Full text Link to item Cite

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.

Journal Article Invest Ophthalmol Vis Sci · February 1, 2018 PURPOSE: Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated with POAG in women but not men; h ... Full text Link to item Cite

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.

Journal Article PLoS Genet · January 2018 Central corneal thickness (CCT) is one of the most heritable ocular traits and it is also a phenotypic risk factor for primary open angle glaucoma (POAG). The present study uses the BXD Recombinant Inbred (RI) strains to identify novel quantitative trait l ... Full text Link to item Cite

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.

Journal Article Nat Commun · November 24, 2017 Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our study he ... Full text Link to item Cite

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.

Journal Article Eur J Hum Genet · November 2017 Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP ... Full text Link to item Cite

Major review: Molecular genetics of primary open-angle glaucoma.

Journal Article Exp Eye Res · July 2017 Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and vi ... Full text Link to item Cite

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Journal Article Nat Genet · July 2017 Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of X ... Full text Link to item Cite

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Journal Article Menopause · February 2017 OBJECTIVE: Several attributes of female reproductive history, including age at natural menopause (ANM), have been related to primary open-angle glaucoma (POAG). We assembled 18 previously reported common genetic variants that predict ANM to determine their ... Full text Link to item Cite

Further evidence for a role of the ADRB2 gene in risk for posttraumatic stress disorder.

Journal Article J Psychiatr Res · January 2017 The aim of the present study was to attempt to replicate the recently reported finding associating rs2400707 of the Adrenoceptor Beta 2, Surface (ADRB2) gene and childhood trauma on PTSD symptoms. Participants included a predominantly veteran cohort of non ... Full text Link to item Cite

A Comparative Study of Serum Exosome Isolation Using Differential Ultracentrifugation and Three Commercial Reagents.

Journal Article PLoS One · 2017 Exosomes play a role in cell-to-cell signaling and serve as possible biomarkers. Isolating exosomes with reliable quality and substantial concentration is a major challenge. Our purpose is to compare the exosomes extracted by three different exosome isolat ... Full text Link to item Cite

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses.

Journal Article Invest Ophthalmol Vis Sci · September 1, 2016 PURPOSE: Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in gene-encoding mitochondrial proteins. ME ... Full text Link to item Cite

miRNA Profile in Three Different Normal Human Ocular Tissues by miRNA-Seq.

Journal Article Invest Ophthalmol Vis Sci · July 1, 2016 PURPOSE: Because microRNAs (miRNAs) have been associated with eye diseases, our study aims to profile ocular miRNA expression in normal human ciliary body (CB), cornea, and trabecular meshwork (TM) using miRNA-Seq to provide a foundation for better underst ... Full text Link to item Cite

Genetics of Glaucoma

Chapter · January 1, 2015 Developments in the field of human genetics led to the identification of genetic variants associated with different types of glaucoma. Their contribution to our understanding of the genetic architecture of glaucoma has similarly advanced for both Mendelian ... Full text Cite

Current Methods to Purify and Characterize Exosomes

Chapter · January 1, 2015 Exosomes are small extracellular vesicles released by cells in a controlled manner. The exosomes have a number of newly defined functions in the extracellular space including paracrine signaling and transferring proteins and small RNAs between cells. In or ... Full text Cite

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

Journal Article Hum Genet · October 2014 Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration c ... Full text Link to item Cite

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma.

Journal Article Eye (Lond) · June 2014 AIMS: Vascular perfusion may be impaired in primary open-angle glaucoma (POAG); thus, we evaluated a panel of markers in vascular tone-regulating genes in relation to POAG. METHODS: We used Illumina 660W-Quad array genotype data and pooled P-values from 31 ... Full text Link to item Cite

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Journal Article Ophthalmology · February 2014 PURPOSE: The CAV1/CAV2 (caveolin 1 and caveolin 2) genomic region previously was associated with primary open-angle glaucoma (POAG), although replication among independent studies has been variable. The aim of this study was to assess the association betwe ... Full text Link to item Cite

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

Journal Article PLoS Genet · 2014 Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association betwe ... Full text Link to item Cite

Lack of association between lysyl oxidase-like 1 polymorphisms and primary open angle glaucoma: a meta-analysis.

Journal Article Int J Ophthalmol · 2014 AIM: To study the associations between lysyl oxidase-like 1 (LOXL1) polymorphisms and primary open angle glaucoma (POAG) remain inconsistent. In this study, we have performed a meta-analysis to investigate the association of LOXL1 polymorphisms with POAG r ... Full text Link to item Cite

Genome-wide association study and meta-analysis of intraocular pressure.

Journal Article Hum Genet · January 2014 Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glau ... Full text Link to item Cite

Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · September 27, 2013 PURPOSE: To identify the specific genes in human trabecular meshwork (TM) related to POAG. METHODS: Primary open-angle glaucoma TM specimens were obtained from routine trabeculectomy surgery. Nonglaucomatous control TM specimens were dissected from donor e ... Full text Link to item Cite

Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Journal Article Invest Ophthalmol Vis Sci · September 17, 2013 PURPOSE: Multiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci in populations of African ancestry, populations at particularly high risk for POAG. METHODS: We geno ... Full text Link to item Cite

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables.

Journal Article J Glaucoma · September 2013 Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide association st ... Full text Link to item Cite

Glaucoma

Chapter · August 29, 2013 Full text Cite

TNXB mutations can cause vesicoureteral reflux.

Journal Article J Am Soc Nephrol · July 2013 Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support the heritability of VUR, specific ge ... Full text Link to item Cite

A genome-wide association study of central corneal thickness in Latinos.

Journal Article Invest Ophthalmol Vis Sci · April 1, 2013 PURPOSE: Central corneal thickness (CCT) is a clinically important risk factor for primary open-angle glaucoma and keratoconus. Genetic factors controlling CCT in Latinos, the most populous minority population in the United States, are unclear. Here we des ... Full text Link to item Cite

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Journal Article Nat Genet · February 2013 Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide signi ... Full text Link to item Cite

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

Journal Article Am J Ophthalmol · February 2013 PURPOSE: To assess the association between single nucleotide polymorphisms (SNPs) of the gene region containing cyclin-dependent kinase inhibitor 2B antisense noncoding RNA (CDKN2B-AS1) and glaucoma features among primary open-angle glaucoma (POAG) patient ... Full text Link to item Cite

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States.

Journal Article Mol Vis · 2013 PURPOSE: Circulating estrogen levels are relevant in glaucoma phenotypic traits. We assessed the association between an estrogen metabolism single nucleotide polymorphism (SNP) panel in relation to primary open angle glaucoma (POAG), accounting for gender. ... Link to item Cite

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Journal Article Invest Ophthalmol Vis Sci · July 3, 2012 PURPOSE: To investigate the effects of central corneal thickness (CCT)-associated variants on primary open-angle glaucoma (POAG) risk using single nucleotide polymorphisms (SNP) data from the Glaucoma Genes and Environment (GLAUGEN) and National Eye Instit ... Full text Link to item Cite

Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American population. METHODS: We recruited 529 ... Link to item Cite

Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: Prevalence rates for primary open-angle glaucoma (POAG) are significantly higher in Africans than in European or Asians. It has been reported recently that mitochondrial DNA (mtDNA) lineages of African origin, excluding L2, conferred susceptibilit ... Link to item Cite

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.

Journal Article PLoS Genet · 2012 Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. We have performed a meta-analy ... Full text Link to item Cite

A high-density genome-wide association screen of sporadic ALS in US veterans.

Journal Article PLoS One · 2012 Following reports of an increased incidence of amyotrophic lateral sclerosis (ALS) in U.S. veterans, we have conducted a high-density genome-wide association study (GWAS) of ALS outcome and survival time in a sample of U.S. veterans. We tested ∼1.3 million ... Full text Link to item Cite

The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: To investigate whether DNA copy number variants (CNVs) in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) in black South Africans. METHODS: Black South African subjects with XFG and age-matched unaffected contr ... Link to item Cite

Molecular genetics in glaucoma.

Journal Article Exp Eye Res · October 2011 Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic an ... Full text Link to item Cite

Myocilin mutations in black South Africans with POAG.

Journal Article Mol Vis · April 27, 2011 PURPOSE: Myocilin (MYOC) mutations are associated with primary open-angle glaucoma (POAG) in multiple populations. Here we examined the role of MYOC mutations in a black South African population with primary open-angle glaucoma (POAG). METHODS: Unrelated b ... Link to item Cite

Serial analysis of gene expression (SAGE) in normal human trabecular meshwork.

Journal Article Mol Vis · April 8, 2011 PURPOSE: To identify the genes expressed in normal human trabecular meshwork tissue, a tissue critical to the pathogenesis of glaucoma. METHODS: Total RNA was extracted from human trabecular meshwork (HTM) harvested from 3 different donors. Extracted RNA w ... Link to item Cite

GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.

Journal Article PLoS One · 2011 DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studi ... Full text Link to item Cite

Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.

Journal Article PLoS One · 2011 Primary open-angle glaucoma (POAG) is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interes ... Full text Link to item Cite

Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.

Journal Article Mol Vis · April 21, 2010 Featured Publication PURPOSE: To investigate whether variants in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) and primary open-angle glaucoma (POAG) in an ancestral population from South Africa. METHODS: Black South African subjects with ... Link to item Cite

AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.

Journal Article Mol Vis · January 20, 2010 Featured Publication PURPOSE: Recent evidence supports the role of reduced cerebrospinal fluid (CSF) pressure in the pathogenesis of primary open-angle glaucoma (POAG). We investigated the association of variants in two candidate genes that are important in CSF production, aqu ... Link to item Cite

Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr).

Journal Article Vet Pathol · January 2010 Featured Publication Animal models carrying mutations in the hairless (Hr) gene provide a rich resource for study of hair follicle biology. A spontaneous mouse mutant with a phenotype strikingly similar to rhino mutants of Hr arose spontaneously in the mouse facility at Oak Ri ... Full text Link to item Cite

The genetics of primary open-angle glaucoma: a review.

Journal Article Exp Eye Res · April 2009 Featured Publication Glaucoma is the major cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), as the most prevalent form of glaucoma, is a complex inherited disorder and affects more than 2 million individuals in the United States. It has become inc ... Full text Link to item Cite

Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18.

Journal Article Am J Hum Genet · April 2009 Featured Publication Parkinson disease (PD) is a complex, multifactorial neurodegenerative disease with substantial evidence for genetic risk factors. We conducted a genome-wide linkage screen of 5824 single-nucleotide polymorphisms in 278 families of European, non-Hispanic de ... Full text Link to item Cite

Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.

Journal Article Invest Ophthalmol Vis Sci · August 2008 Featured Publication PURPOSE: Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). The purpose of this study was to invest ... Full text Link to item Cite

Myotilin overexpression enhances myopathology in the LGMD1A mouse model.

Journal Article Muscle Nerve · May 2008 Featured Publication Missense mutations in the myotilin gene cause limb-girdle muscular dystrophy type 1A (LGMD1A). We set out to examine the effect of overexpression of wild-type myotilin in an LGMD1A mouse model by crossing wild-type and mutant transgenic mice. Compared to s ... Full text Link to item Cite

Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.

Journal Article Mol Vis · January 29, 2008 Featured Publication PURPOSE: To identify if recently described LOXL1 (lysyl oxidase-like 1) polymorphisms are associated with pseudoexfoliation glaucoma (XFG) in a United States (U.S.) Caucasian patient population. METHODS: Individuals with XFG were identified using standard ... Link to item Cite

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Journal Article Mol Vis · 2008 Featured Publication PURPOSE: Coding variants in the optineurin gene (OPTN, GLC1E) have been reported to play a role in primary open-angle glaucoma (POAG) in various populations. This study investigated the role of OPTN sequence variants in patients with POAG in Ghana (West Af ... Link to item Cite

No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations.

Journal Article Mol Vis · November 26, 2007 Featured Publication PURPOSE: To investigate whether recently described polymorphisms in the optic atrophy 1 gene (OPA1) are associated with primary open-angle glaucoma (POAG) with elevated intraocular pressure in the Caucasian, African-American, and Ghanaian (West African) po ... Link to item Cite

The near-naked hairless (Hr(N)) mutation disrupts hair formation but is not due to a mutation in the Hairless coding region.

Journal Article J Invest Dermatol · July 2007 Featured Publication Near-naked hairless (Hr(N)) is a semi-dominant, spontaneous mutation that was suggested by allelism testing to be allelic with mouse Hairless (Hr). Hr(N) mice differ from other Hr mutants in that hair loss appears as the postnatal coat begins to emerge, ra ... Full text Link to item Cite

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

Journal Article Chemtracts · April 1, 2007 Recent investigations suggest that acetylation of various residues of histones H3 and H4 and trimethylation of Lys 4 of histone H3 (H3K4) in nucleosomes are characteristics of active promoters across species from yeast to mammals. Using chromatin immunopre ... Cite