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Genomes and Genes | P H ByersSummaryAffiliation: University of Washington Country: USA Publications
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Publications
Recessively inherited forms of osteogenesis imperfectaPeter H Byers
Department of Pathology, University of Washington, Seattle, Washington 98195, USA
Annu Rev Genet 46:475-97. 2012..These hopes are yet to be met, but the study of the recessively inherited forms of OI has illuminated the details of the collagen processing pathways...
Collagens: building blocks at the end of the development lineP H Byers
Department of Pathology, University of Washington, Seattle 98195, USA
Clin Genet 58:270-9. 2000..In their absence, phenotypes range from lethal to mild. These studies demonstrate that collagens,in their rich array, play important roles in development and are significant elements in reading the developmental code...
Killing the messenger: new insights into nonsense-mediated mRNA decayPeter H Byers
Department of Pathology, University of Washington, Seattle, Washington 98195-7470, USA
J Clin Invest 109:3-6. 2002- Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagenP H Byers
Department of Pathology, University of Washington, Seattle 98195 7470, USA
Am J Med Genet 72:94-105. 1997..These new findings expand the array of mutations known to cause EDS type VII and provide insight into genotype/phenotype relationships in these genes... - Folding defects in fibrillar collagensP H Byers
Department of Pathology, Box 357470, University of Washington, Seattle, WA 98195 7470, USA
Philos Trans R Soc Lond B Biol Sci 356:151-7; discussion 157-8. 2001..These mutations all interfere with the ability of these molecules to form the characteristic fibrillar array in the extracellular matrix and many result in intracellular retention of abnormal molecules... - 2005 ASHG Award for Excellence in Human Genetics Education. Introductory speech of Joseph D. McInerneyPeter H Byers
Department of Pathology, University of Washington, Seattle, 98195-7470, USA
Am J Hum Genet 78:373. 2006 - Osteogenesis imperfecta: perspectives and opportunitiesP H Byers
Department of Pathology, University of Washington, Seattle 98195 7470, USA
Curr Opin Pediatr 12:603-9. 2000..Although there are optimistic proponents for each strategy, the lack of well-controlled studies and the absence of clearly defined objectives for therapy hinder clear assessment... - Determination of the molecular basis of Marfan syndrome: a growth industryPeter H Byers
Department of Pathology, University of Washington, Seattle, Washington 98195 7470, USA
J Clin Invest 114:161-3. 2004..The model proposed in this issue demonstrates several strategies for clinical intervention... - The role of genomics in medicine--past, present and futurePeter Byers
Department of Pathology, University of Washington Medical Center, Seattle, WA 98195-7470, USA
J Zhejiang Univ Sci B 7:159-60. 2006 - 2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discussPeter H Byers
Department of Pathology, University of Washington, Seattle, 98195-7470, USA
Am J Hum Genet 78:368-72. 2006 - Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IVU Schwarze
Department of Pathology, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 69:989-1001. 2001..This suggests that the major effect of many of these dominant mutations in the "minor" collagen genes may be expressed through protein deficiency rather than through incorporation of structurally altered molecules into fibrils... - Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfectaJ M Pace
Department of Pathology, University of Washington, Seattle, Washington, USA
Hum Mutat 18:319-26. 2001..These findings expand the known repertoire of uncommon in-frame deletions and duplications in OI, and provide insight into normal collagen biosynthesis and collagen triple helix formation... - Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfectaD H Cohn
Department of Pathology, University of Washington, Seattle 98195
J Biol Chem 263:14605-7. 1988..This represents a new class of mutations, point mutations outside the triple-helical domain of the chains of type I collagen, that produce the osteogenesis imperfecta phenotype... - Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type IM C Willing
Department of Pediatrics, University of Washington, Seattle 98195
J Clin Invest 85:282-90. 1990.... - Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecJ M Pace
Department of Pathology, Box 357470, University of Washington, Seattle, WA 98195, USA
J Med Genet 38:443-9. 2001..This intra-chain bond may stabilise the C-propeptide and promote rapid chain association. Other regions of the C-propeptide thus play more prominent roles in chain registration and triple helix nucleation... - Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfectaS D Chessler
Department of Pathology, University of Washington, Seattle 98195
J Biol Chem 268:18218-25. 1993..These findings extend the range of lethal mutations in the type I collagen genes and help to identify regions of the carboxyl-terminal propeptide that may be important for chain-chain recognition and molecular assembly... - Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfectaM C Willing
Department of Medicine, University of Washington, Seattle 98195
J Biol Chem 263:8398-404. 1988..The lethal effect may be due to decreased secretion of normal collagen and secretion of a small amount of abnormal collagen that disrupts matrix formation... - BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfectaS D Chessler
Department of Pathology, University of Washington, Seattle 98195
J Biol Chem 268:18226-33. 1993..The recognition by BiP of such procollagen in OI cell strains shows that BiP plays a role in the physiological response to the production of some disease-producing abnormal proteins... - Osteogenesis imperfecta: translation of mutation to phenotypeP H Byers
Department of Pathology, University of Washington, Seattle 98195
J Med Genet 28:433-42. 1991 - A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseasesJ M Pace
Department of Pathology, University of Washington, Seattle, WA, USA
J Med Genet 39:23-9. 2002.... - Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspringD M Milewicz
Department of Pathology, University of Washington, Seattle 98195
Am J Hum Genet 53:62-70. 1993..These findings suggest that at least some of the deletions seen in human genes may occur during replication, rather than as a consequence of meiotic crossing-over, and that they thus have a risk for recurrence when observed de novo... - Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretionG A Wallis
Department of Pathology, University of Washington, Seattle 98195
J Biol Chem 265:18628-33. 1990..Our findings indicate that the cell distinguishes three classes of molecules and suggest that these molecules differ depending on the number of abnormal chains in the trimer... - Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotypeR J Wenstrup
Department of Pediatrics, University of Washington, Seattle 98195
J Biol Chem 263:7734-40. 1988.... - Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagenC J Pruchno
Department of Medicine, University of Washington, Seattle 98195
Hum Genet 87:33-40. 1991..Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen... - Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermisL T Smith
Department of Dermatology, University of Washington, Seattle 98195, U S A
J Invest Dermatol 108:241-7. 1997..These findings indicate that mutations in the COL3A1 gene have effects on secretion, fibrillogenesis, and skin architecture that reflect the position and nature of the mutation... - Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II)U Schwarze
Department of Pathology, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 66:1757-65. 2000.... - Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parentG A Wallis
Department of Pathology, University of Washington, Seattle 98195
Am J Hum Genet 46:1034-40. 1990..Furthermore, the findings make it clear that some individuals with mild to moderate forms of OI are mosaic for mutations that will be lethal in their offspring... - Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndromeM Qi
Department of Pathology, University of Washington, Seattle, WA 98195 7470, USA
Hum Mol Genet 7:465-9. 1998..These findings indicate that endoplasmic reticulum localization only of a variant ATP7A protein is insufficient to effect normal copper transport... - Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotypeB J Starman
Department of Pathology, University of Washington, Seattle 98195
J Clin Invest 84:1206-14. 1989.... - Sequence and characterization of the complete human thrombospondin 2 cDNA: potential regulatory role for the 3' untranslated regionT L LaBell
Department of Pathology, University of Washington, Seattle 98195
Genomics 17:225-9. 1993..It also contains an 89-bp AT-rich segment with 92% of its nucleotides identical to the same region of the mouse TSP2 3' untranslated region, which suggests an important functional or structural property associated with this region... - Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular typeM Pepin
Department of Pathology, University of Washington, Seattle 98195 7470, USA
N Engl J Med 342:673-80. 2000..Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented... - Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10D J Tilstra
Department of Pathology, University of Washington School of Medicine, Seattle
Genomics 23:480-5. 1994..All of the motifs conform to the patterns demonstrated in the human sequence, and many of the differences in identity between the sequences are conservative... - Testing for osteogenesis imperfecta in cases of suspected non-accidental injuryA Marlowe
Public Health Genetics Program, University of Washington, Seattle, WA 98195, USA
J Med Genet 39:382-6. 2002.... - A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinaseG A Wallis
Department of Pathology, University of Washington, Seattle 98195
J Biol Chem 267:25529-34. 1992.... - Osteogenesis imperfecta: mode of delivery and neonatal outcomeR Cubert
Department of Pathology, University of Washington, Seattle, Washington 98195, USA
Obstet Gynecol 97:66-9. 2001..Prenatal diagnosis did not influence mode of delivery in most instances. Most cesarean deliveries were done for usual obstetric indications... - Thrombospondin II: partial cDNA sequence, chromosome location, and expression of a second member of the thrombospondin gene family in humansT L LaBell
Department of Pathology, University of Washington, Seattle 98195
Genomics 12:421-9. 1992..These findings suggest that previous studies of thrombospondin function need to be reassessed to identify the functions specific to each molecule... - Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfectaC Niyibizi
Department of Orthopaedics, University of Washington, Seattle 98195
J Biol Chem 267:23108-12. 1992.... - The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shapeB M Schaefer
Department of Medicine, Division of Cardiology, Seattle, WA, USA
Heart 94:1634-8. 2008..To establish a classification of bicuspid aortic valve (BAV) that includes both leaflet morphology and aortic shape... - Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1Annie C Singleton
School of Dentistry, University of Washington, Seattle, Washington, USA
Hum Mutat 25:348-52. 2005..These cows will be valuable for investigations into the molecular pathogenesis of MFS, and may lead to better therapeutic testing and evaluation of human Marfan patients... - Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathwayUlrike Schwarze
Department of Pathology, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 74:917-30. 2004..The complete absence of pro alpha 2(I) chains has the surprising effect of producing cardiac valvular disease without bone involvement... - Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat patternS D Chessler
Department of Pathology, University of Washington, Seattle 98195
J Biol Chem 267:7751-7. 1992.... - Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aortaBenjamin M Schaefer
Division of Cardiology, Department of Medicine, University of Washington, Seattle, Washington, USA
Am J Cardiol 99:686-90. 2007..In conclusion, A-P BAV is associated with a larger stiffer sinus of Valsalva and smaller arch diameter. The potential impact of BAV phenotype and aortic elasticity on clinical outcomes merits further study... - Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfectaHelena E Christiansen
Molecular and Cellular Biology Program, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 86:389-98. 2010..Identification of this mutation in SERPINH1 gives further insight into critical steps of the collagen biosynthetic pathway and the molecular pathogenesis of OI... - A report on the 3rd Workshop on Heritable Disorders of Connective TissueLynn Y Sakai
Department of Biochemistry and Molecular Biology, Shriners Hospital for Children, Oregon Health Sciences University, 3101 SW Sam Jackson Park Road, Portland, OR 97201, USA
Matrix Biol 21:7-13. 2002..In addition to the invited participants, more than eighty guests (scientists, NIH staff, and members of the Coalition for Heritable Disorders of Connective Tissue) attended... - Aneurysm syndromes caused by mutations in the TGF-beta receptorBart L Loeys
McKusick Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore, USA
N Engl J Med 355:788-98. 2006....
Research Grants
- New Research Strategies in Osteogenesis ImperfectaPeter Byers; Fiscal Year: 2006..During the second day, participants will focus on research issues during sessions devoted to pathophysiology/cell and bone biology, New Ol genes and determinants of variation, mouse and other animal models, and future strategies. ..
- Mild Ol - Toward Better Understanding and TreatmentPeter Byers; Fiscal Year: 2004..abstract_text> ..
- Gordon Research Conferences: Collagen 2003, 2005, 2007Peter Byers; Fiscal Year: 2003..The funds will be used to partially defray conferee travel expenses and registration fees for invited speakers and for young members of the research community. ..
- IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENESPeter Byers; Fiscal Year: 2002....
- MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTAPeter Byers; Fiscal Year: 1999....
- MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTAPeter Byers; Fiscal Year: 1993..These studies should help to understand the molecular basis of OI, and how mutations are translated to phenotype. Finally, they have implications for the pathogenesis of more common disorders of bone formation...