Heather Nina Yeowell

Journal Article J Invest Dermatol · June 2009 Synthesis of collagen, a major component of the extracellular matrix, is increased dramatically in fibrotic conditions such as scleroderma. This overaccumulation of collagen is associated with increased pyridinoline cross-links. These cross-links are deriv ... Full text Link to item Cite

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Journal Article J Biol Chem · May 13, 2005 Patients with OI/EDS form a distinct subset of osteogenesis imperfecta (OI) patients. In addition to skeletal fragility, they have characteristics of Ehlers-Danlos syndrome (EDS). We identified 7 children with types III or IV OI, plus severe large and smal ... Full text Link to item Cite

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

Journal Article J Invest Dermatol · May 2005 The clinical diagnosis of a patient with the phenotype of Ehlers-Danlos syndrome type VI was confirmed biochemically by the severely diminished level of lysyl hydroxylase (LH) activity in the patient's skin fibroblasts. A novel homozygous mutation, a singl ... Full text Link to item Cite

Tissue-specific expression and regulation of the alternatively-spliced forms of lysyl hydroxylase 2 (LH2) in human kidney cells and skin fibroblasts.

Journal Article Matrix Biol · January 2005 Featured Publication Lysyl hydroxylases 1, 2, and 3 catalyse the hydroxylation of specific lysines in collagen. A small percentage of these hydroxylysine residues are precursors for the cross-link formation essential for the tensile strength of collagen. Lysyl hydroxylase 2 (L ... Full text Link to item Cite

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.

Journal Article Eur J Dermatol · 2005 We have characterized a patient with the phenotype of Ehlers-Danlos syndrome type VIA (EDS VIA: kyphoscoliotic form), accompanied by the unique feature of cystic malformations of the meninges, to be homozygous for a large duplication of 8.9 kb in the lysyl ... Link to item Cite

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.

Journal Article Am J Med Genet A · December 1, 2004 Skin fibroblasts from the majority of patients with the clinical diagnosis of Ehlers-Danlos syndrome type VI (EDS VI; kyphoscoliosis type), have significantly decreased lysyl hydroxylase (LH) activity due to mutations in the LH1 gene (classified as EDS VIA ... Full text Link to item Cite

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Journal Article Mol Genet Metab · December 2004 The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized by tissue fragility, hyperelasticity of the skin and joint hypermobility. This phenotype, accompanied by kyphoscoliosis and/or ocular fragili ... Full text Link to item Cite

Lysine hydroxylation of collagen in a fibroblast cell culture system.

Journal Article Biochem Biophys Res Commun · June 6, 2003 The lysine (Lys) hydroxylation pattern of type I collagen produced by human fibroblasts in culture was analyzed and compared. Fibroblasts were cultured from normal human skin (NSF), keloid (KDF), fetal skin (FDF), and skin tissues of Ehlers-Danlos syndrome ... Full text Link to item Cite

Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.

Journal Article Hum Mutat · July 2000 Screening of full length cDNAs for lysyl hydroxylase 1 (LH1; also PLOD) amplified from dermal fibroblasts from six unrelated patients with the autosomal recessive disorder Ehlers-Danlos syndrome type VI (EDS VI) has shown them to be both homozygous and com ... Full text Link to item Cite

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

Journal Article Matrix Biol · February 2000 This study describes the relative contribution of the 10 cysteine residues in lysyl hydroxylase 1 (LH1) to enzyme activity. We have identified a novel mutation of a 15-bp deletion in exon 11 in one LH1 allele, that codes for amino acids 367-371 (DLCRQ), in ... Full text Link to item Cite

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

Journal Article Mol Genet Metab · 2000 Featured Publication The Ehlers-Danlos syndromes are a heterogeneous group of inherited connective tissue disorders that are characterized by joint hypermobility and skin fragility and hyperextensibility. Patients with the autosomal recessive type VI variant of the Ehlers-Danl ... Full text Link to item Cite

A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.

Journal Article Mol Genet Metab · May 1999 In the present study, we have characterized a patient with Ehlers-Danlos syndrome type VI (EDS VI) as homozygous for a pathogenetic mutation in the lysyl hydroxylase 1 (LH1) gene. This mutant allele contributes to very low levels of LH1 mRNA and severely d ... Full text Link to item Cite

Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene.

Journal Article Matrix Biol · April 1999 In this study we present the first report of alternative RNA splicing in a gene for lysyl hydroxylase (LH) in a normal population. This splicing event, which we have observed in the LH2 gene, appears to be tissue specific. The LH2 isoform was recently clon ... Full text Link to item Cite

Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.

Journal Article Proc Assoc Am Physicians · 1999 We have performed the first prenatal assessment of clinical phenotype in a family affected by Ehlers-Danlos syndrome type VI (EDS VI), an inherited collagen disorder, by screening the fetal DNA for mutations in the lysyl hydroxylase (LH) gene. We have prev ... Full text Link to item Cite

Altered posttranslational modifications of collagen in keloid.

Journal Article Biochem Biophys Res Commun · August 28, 1998 Keloid is a tissue with an excessive accumulation of collagen. In this study, we have partially characterized post-translational modifications of type I collagen in human keloid in order to pursue their potential involvement in this pathology. The levels o ... Full text Link to item Cite

A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.

Journal Article Arch Biochem Biophys · November 1, 1997 Patients with Ehlers Danlos Syndrome type VI (EDS VI) are biochemically characterized by a deficiency of lysyl hydroxylase (LH), an enzyme that hydroxylates lysine residues required in the formation of stable crosslinks in collagen biosynthesis. Recently, ... Full text Link to item Cite

Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.

Journal Article Proc Assoc Am Physicians · July 1997 We have characterized a patient with Ehlers-Danlos syndrome type VI as a compound heterozygote for the lysyl hydroxylase (LH) gene, with a pathogenetic mutation in each allele contributing to the very low levels of mRNA and LH activity in his fibroblasts. ... Link to item Cite

The expression of a functional, secreted human lysyl hydroxylase in a baculovirus system.

Journal Article J Invest Dermatol · January 1996 This study reports the expression of functional human lysyl hydroxylase (LH), a post-translational modifying enzyme that catalyzes the hydroxylation of the lysine residues essential for cross-linking in collagen biosynthesis. We have developed a novel bacu ... Full text Link to item Cite

The mRNA and the activity of lysyl hydroxylase are up-regulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type VI.

Journal Article Arch Biochem Biophys · August 20, 1995 Lysyl hydroxylase (LH) catalyzes the formation of hydroxylysine required for the intermolecular cross-linking of collagen, which is an essential step in collagen biosynthesis. Dermal fibroblasts from patients with Ehlers-Danlos Syndrome type VI (EDS VI), a ... Full text Link to item Cite

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

Journal Article J Clin Invest · April 1994 In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI). We have identified a putative mutation in eac ... Full text Link to item Cite

Sequence analysis of a cDNA for lysyl hydroxylase isolated from human skin fibroblasts from a normal donor: differences from human placental lysyl hydroxylase cDNA.

Journal Article J Invest Dermatol · March 1994 Using polymerase chain reaction, we have isolated and sequenced a 3-kb cDNA for lysyl hydroxylase (LH) from human skin fibroblasts from an normal donor. Apart from two polymorphic sites, no differences were observed between the 2184 nt coding regions of LH ... Full text Link to item Cite

Regulation of lysyl oxidase mRNA in dermal fibroblasts from normal donors and patients with inherited connective tissue disorders.

Journal Article Arch Biochem Biophys · January 1994 Lysyl oxidase (LO) is an extracellular copper-dependent enzyme that catalyzes the initial reaction in the formation of lysine or hydroxylysine-derived crosslinks during collagen biosynthesis. We have isolated a cDNA for human LO from skin fibroblast poly(A ... Full text Link to item Cite

The Ehlers-Danlos syndromes.

Journal Article Semin Dermatol · September 1993 The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized clinically by skin fragility, skin hyperextensibility, joint hypermobility, and excessive bruising. At least 10 different subtypes of EDS hav ... Link to item Cite

Characterization of a partial cDNA for lysyl hydroxylase from human skin fibroblasts; lysyl hydroxylase mRNAs are regulated differently by minoxidil derivatives and hydralazine.

Journal Article J Invest Dermatol · December 1992 Lysyl hydroxylase (LH) is an essential enzyme in collagen biosynthesis that catalyzes the formation of hydroxylysine required for intermolecular crosslinking of collagen. We have isolated a partial (2.2-kb) cDNA for LH from human skin fibroblasts using PCR ... Full text Link to item Cite

Hydralazine differentially increases mRNAs for the alpha and beta subunits of prolyl 4-hydroxylase whereas it decreases pro alpha 1(I) collagen mRNAs in human skin fibroblasts.

Journal Article Arch Biochem Biophys · September 1991 We have used specific oligonucleotide probes to measure the effect of hydralazine on mRNA levels of the alpha and beta subunits of prolyl 4-hydroxylase (PH), a key post-translational modifying enzyme in collagen biosynthesis. Hydralazine exerts a paradoxic ... Full text Link to item Cite

Characterization of a cDNA for the unexpressed form of cytochrome P-450g from the (-g) rat and differentiation of its mRNA from that of the (+g) phenotype using specific oligoprobes.

Journal Article Biochemistry · January 23, 1990 Our laboratory recently isolated a cDNA for cytochrome P-450g (IIC13), a male-specific, highly polymorphic P-450 isozyme, from livers of the high phenotype (+g) of Sprague-Dawley rats [McClellan-Green et al. (1989) Biochemistry 28, 5832-5839]. Hybridizatio ... Full text Link to item Cite

Hormonal regulation of male-specific rat hepatic cytochrome P-450g (P-450IIC13) by androgens and the pituitary.

Journal Article J Biol Chem · November 15, 1989 The present study examines the hormonal regulation male-specific cytochrome P-450g (IIC13) and its mRNA. Neonatal gonadectomy of male rats abolished hepatic expression of P-450g and its mRNA in adulthood, while ovariectomy had little effect. Neonatal admin ... Link to item Cite

Suppression of male-specific cytochrome P450 2c and its mRNA by 3,4,5,3',4',5'-hexachlorobiphenyl in rat liver is not causally related to changes in serum testosterone.

Journal Article Arch Biochem Biophys · June 1989 Rat cytochrome P450 2c (P450 gene IIC11) is a constitutive, male-specific hepatic enzyme which is suppressed greater than 90% by treatment with 3,4,5,3',4',5'-hexachlorobiphenyl (HCB) [H. N. Yeowell et al. (1987) Mol. Pharmacol. 32, 340-347]. HCB also decr ... Full text Link to item Cite

Induction of rat cytochrome P-450 3 and its mRNA by 3,4,5,3',4',5'-hexachlorobiphenyl.

Journal Article Mol Pharmacol · March 1988 Rat cytochrome P-450 3 (P-450 3) is a constitutive hepatic steroid hormone 7 alpha-hydroxylase which is relatively unresponsive to a number of monooxygenase-inducing agents. The present study demonstrates that a polyhalogenated aromatic hydrocarbon inducer ... Link to item Cite

Suppression of the constitutive, male-specific rat hepatic cytochrome P-450 2c and its mRNA by 3,4,5,3',4',5'-hexachlorobiphenyl and 3-methylcholanthrene.

Journal Article Mol Pharmacol · September 1987 Rat liver cytochrome P-450 2c (P-450 2c) is a constitutive, male-specific enzyme that oxidatively metabolizes both steroid hormones and liphophilic foreign compounds. Exposure of adult male rats to certain xenobiotics can lead to a decrease in the expressi ... Link to item Cite

Induction of cytochrome P-450 isozymes by hexachlorobenzene in rats and aromatic hydrocarbon (Ah)-responsive mice.

Journal Article J Biochem Toxicol · June 1986 Hexachlorobenzene (HCB) differs markedly from other chlorinated benzenes (CBs) as an inducer of cytochrome P-450 (P-450) isozymes as determined by radioimmunoassay and immunoblotting. At greater than 99% pure, HCB induced both the phenobarbital-inducible f ... Full text Link to item Cite

Structure-activity relationships of chlorinated benzenes as inducers of hepatic cytochrome P-450 isozymes in the rat.

Journal Article IARC Sci Publ · 1986 This study compared the ability of hexachlorobenzene (HCB) and of other chlorinated benzenes to induce cytochrome P-450 isozymes in rat liver. HCB (greater than 99% pure) induced both the phenobarbital-inducible forms (cytochrome P-450b and P-450e) and the ... Link to item Cite

Induction of specific cytochrome P-450 isozymes by methylenedioxyphenyl compounds and antagonism by 3-methylcholanthrene.

Journal Article Arch Biochem Biophys · December 1985 Two methylenedioxyphenyl compounds, isosafrole (5-propenyl-1,3-benzodioxole) and an analog, 5-t-butyl-1,3-benzodioxole (BD), differ markedly as inducers of cytochrome P-450 isozymes in rat liver microsomes. Isosafrole is a mixed-type inducer, inducing P-45 ... Full text Link to item Cite

Changes in streptonigrin lethality during adaptation of Escherichia coli to picolinic acid. Correlation with intracellular picolinate and iron uptake.

Journal Article Biochim Biophys Acta · March 1, 1984 Uptake studies with [14C]picolinate and 55Fe3+ have provided an explanation for the change in streptonigrin killing on adaptation of Escherichia coli to picolinate, in terms of the available iron within the cell. When picolinic acid is added to a growing c ... Full text Link to item Cite

Iron requirement in the bactericidal mechanism of streptonigrin.

Journal Article Antimicrob Agents Chemother · December 1982 Mutants of Escherichia coli K-12 that are unable to make use of the enterochelin transport system were used to confirm that streptonigrin requires iron for its bactericidal action. Correlation of viability studies and 55Fe3+ uptake experiments showed that ... Full text Link to item Cite

Iron enhances the bactericidal action of streptonigrin.

Journal Article Biochem Biophys Res Commun · May 31, 1982 Full text Link to item Cite