Dr. Peter H. Byers

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University of Washington
School of Medicine
Pathology
ProfessorAppointed: 1986
University of Washington
School of Medicine
Medicine
Medical Genetics
ProfessorAppointed: 1986

Mailing Address

Box 357470
University of Washington
Seattle, Washington 98195
United States

Contact Information

Phone: (206) 543-4206
Fax: (206) 616-1899
pbyers@u.washington.edu

Qualifications

M.D., Case Western Reserve University, 1969.
B.A., Reed College, 1964.

Expertise and Research Interests

We are pursuing several lines of research: the characterization of mutations in type I collagen genes (COL1A1 and COL1A2) that give rise to forms of osteogenesis imperfecta and other disorders, the identification and characterization of mutations in the type III collagen gene (COL3A1) which give rise to Ehlers-Danlos syndrome type IV, characterization of mutations in other genes (e.g., COL5A1, COL5A2, PLOD1 and the N-terminal procollagen protease) that result in other forms of connective tissue disorder, identification of proteins in the intracellular and extracellular processing pathways that identify abnormal collagen proteins, and the mechanisms of mRNA processing in collagen genes to predict the outcome of splice site mutations. In addition, weare searching for other genes that may give rise to phenotypes of osteogenesis imperfecta, and determining the rate and genetic basis of parental mosaicism for mutations in these genes.

The majority of mutations in the COL1Al and COLlA2 genes that cause OI result in substitution for glycines within the triple helix. Most of the remainder alter splice sites. Our studies of the mutations suggest that in some instances the order of exon splicing may determine the effects of splice mutations; as a consequence we are studying the order of intron removal in such cell strains. One of the most puzzling aspects of OI has been the failure to identify mutations in all affected individuals. Using long amplification regions, we have noted low level splice defects in some such patients that result in the production of only a small amount of abnormal molecules due to the presence of 5-10% abnormal mRNA species as a consequence of mutations outside the canonical splice site sequences. However, it is clear that some mutations reside outside these two gene.

We have now characterized almost 400 mutations in our families with EDS type IV. These are more heavily weighted to point mutations that result in substitutions for glycine residues within the triple helix of the molecule than mutations that alter splice site integrity. Some mutations prohibit mRNA transport from the nucleus when introns that contain termination codons are included. These findings suggest that there is a link between splicing and nuclear recognition of premature termination codons that may be different from the recognition process that leads to cytoplasmic nonsense-codon mediated mRNA decay. The mechanisms of recognition of these structures is being pursued.

Similar approaches are being taken to disorders which result from several other genes involved in connective tissue biogenesis.

Other Expertise

Human genetics and mechanisms of human genetic disorders. Use of genetic testing in the legal arena.

Future Research

One of the major thrusts of our research during the next 2-5 years will be to determine the order of intron removal in the complex collagen genes, to determine the relationship between order of intron removal and outcome of splice mutations that involve those introns, and to identify the determinants of splice order

We will characterize the rate of parental mosaicism and attempt to determine if there are genetic predispositions to early embryonic mutations (e.g., variation in sequences of polymerases or genes involved in DNA repair) that might influence the rate of mutation early in embryogenesis.

We are assessing the use of genetic information in the management of decisions about non-accidental injury of infants and children.

Keywords

COS Keywords:

Bone, Bone Diseases, Cardiovascular Biology, Collagen, Connective Tissue, Genetic Diseases, Genetics, Pathology, Vascular Biology.

Additional Terms:

Bone, Bone Metabolic Diseases, Cardiovascular Biology, Connective Tissue, Genetic Diseases, Genetics, MRNA Splicing, Nonsense Mediated MRNA Decay, Skin Biology, Vascular Biology, Vessel Wall Biology.

Languages

(Reading, Writing, Speaking)

French: (Functional, Basic, Basic)
Italian: (Basic, Basic, Basic)

Memberships

American Association for the Advancement of Science
American Society for Clinical Investigation
American Society for Investigative Pathology
American Society of Human Genetics
European Society of Human Genetics

Honors and Awards

2003, Chair, Collagen Gordon Conference,
2001, Vice Chair, Collagen Gordon Conference,
1994-1999, Editor, American Journal of Human Genetics, American Society of Human Genetics
1994, Fellow, American Association for the Advancement of Science
1991, Antonin Marfan Award, National Marfan Foundation
1979-1984, Established Investigator, American Heart Association
1974-1977, Fellow, Helen Hay Whitney Foundation
Alpha Omega Alpha Medical Honor Society,

Previous Positions

1982-1986, Associate Professor, University of Washington, School of Medicine, Pathology and Medicine
1979-1982, Assistant Professor, University of Washington, School of Medicine, Pathology and Medicine
1978-1979, Acting Assistant Professor, University of Washington, School of Medicine, Medicine
1977-1979, Acting Assistant Professor, University of Washington, School of Medicine, Pathology

Publications

  • Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B (Oct 2004) Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders., Human Mutation, 24 (4), 330-7 Abstract
  • Byers PH (Jul 2004) Determination of the molecular basis of Marfan syndrome: a growth industry., The Journal of Clinical Investigation, 114 (2), 161-3 Abstract
  • Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH (May 2004) Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway., American Journal of Human Genetics, 74 (5), 917-30 Abstract
  • Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, de Almeida S, Horsthemke B, Ludecke HJ (Feb 2004) Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal., European Journal of Human Genetics : Ejhg, 12 (2), 121-6 Abstract
  • Chamberlain JR, Schwarze U, Wang PR, Hirata RK, Hankenson KD, Pace JM, Underwood RA, Song KM, Sussman M, Byers PH, Russell DW (Feb 2004) Gene targeting in stem cells from individuals with osteogenesis imperfecta., Science, 303 (5661), 1198-201 Abstract
  • Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A (Jun 2003) Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism., Clinical Genetics, 63 (6), 510-5 Abstract
  • Pace JM, Corrado M, Missero C, Byers PH (Mar 2003) Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1., Matrix Biology : Journal of the International Society for Matrix Biology, 22 (1), 3-14 Abstract
  • Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS (Sep 2002) Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I., American Journal of Human Genetics, 71 (3), 451-65 Abstract
  • Marlowe A, Pepin MG, Byers PH (Jun 2002) Testing for osteogenesis imperfecta in cases of suspected non-accidental injury., Journal of Medical Genetics, 39 (6), 382-6 Abstract
  • Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, Deveikis JP (Jun 2002) Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature., Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society., 22 (2), 75-81 Abstract
  • Johnson MT, Morrison S, Heeger S, Mooney S, Byers PH, Robin NH, A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation., Journal of Medical Genetics, 39(2), 128-32, Feb 2002 Abstract
  • Byers PH (Jan 2002) Killing the messenger: new insights into nonsense-mediated mRNA decay., The Journal of Clinical Investigation, 109 (1), 3-6 Abstract
  • Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH (Jan 2002) 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 diseases., Journal of Medical Genetics, 39 (1), 23-9 Abstract
  • Sakai LY, Byers PH, Ramirez F ( Jan 2002) A report on the 3rd Workshop on Heritable Disorders of Connective Tissue., , , 7-13 pages Abstract
  • Byers PH, An exception to the rule, New England Journal of Medicine, 345(16), 1203-5, 2001 Abstract
  • Cubert R, Cheng EY, Mack S, Pepin MG, Byers PH, Osteogenesis imperfecta: mode of delivery and neonatal outcome, Obstetrics and Gynecology, 97(1), 66-9, Jan 2001 Abstract
  • Byers PH, Osteogenesis imperfecta: perspectives and opportunities, Current Opinion in Pediatrics, 12(6), 603-9, December 2000 Abstract
  • Byers PH, Collagens: building blocks at the end of the development line, Clinical Genetics, 58(4), 270-9, October 2000 Abstract
  • Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH, 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), American Journal of Human Genetics, 66(6), 1757-65, June 2000 Abstract
  • Pepin M, Schwarze U, Superti-Furga A, Byers PH, Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type [see comments, New England Journal of Medicine, 342(10), 673-80, 9 2000 Abstract
  • Byers PH, Molecular genetic pathology. Coming of age in the molecular world., American Journal of Pathology, 155(3), 673-4, September 1999 Abstract
  • Schwarze U, Starman BJ, Byers PH, Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site, American Journal of Human Genetics, 65(2), 336-44, August 1999 Abstract
  • Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH, Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation \(G571S\) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some aff, American Journal of Medical Genetics, 82(4), 305-11, 12 Feb 1999 Abstract
  • Byers P H, Ashkenas J, Pedigrees-publish? or perish the thought?, American Journal of Human Genetics, 63(3), 678-81, September 1998 Abstract
  • Qi M, Byers P H, Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome., Human Molecular Genetics, 7(3), 465-9, March 1998 Abstract
  • Schwarze U, Goldstein J A, Byers P H, Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV., American Journal of Human Genetics, 61(6), 1276-86, December 1997 Abstract
  • Byers P H, Duvic M, Atkinson M, Robinow M, Smith L T, Krane S M, Greally M T, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U, 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 collagen., American Journal of Medical Genetics, 72(1), 94-105, 3 Oct 1997 Abstract
  • Ashkenas J, Byers P H, The final stage of gene expression: chaperones and the regulation of protein fate., American Journal of Human Genetics, 61(2), 267-72, August 1997 Abstract
  • Pepin M, Atkinson M, Starman B J, Byers P H, Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies., Prenatal Diagnosis, 17(6), 559-70, June 1997 Abstract
  • Smith L T, Schwarze U, Goldstein J, Byers P H, 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 dermis., Journal of Investigative Dermatology, 108(3), 241-7, March 1997 Abstract
  • Mayer S A, Rubin B S, Starman B J, Byers P H, Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen [see comments], Neurology, 47(2), 552-6, August 1996 Abstract
  • Toriello H V, Glover T W, Takahara K, Byers P H, Miller D E, Higgins J V, Greenspan D S, A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito., Nature Genetics, 13(3), 361-5, July 1996 Abstract
  • Steiner R D, Pepin M, Byers P H, Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta., Journal of Pediatrics, 128(4), 542-7, April 1996 Abstract
  • Legget M E, Unger T A, O'Sullivan C K, Zwink T R, Bennett R L, Byers P H, Otto C M, Aortic root complications in Marfan's syndrome: identification of a lower risk group., Heart, 75(4), 389-95, April 1996 Abstract
  • Putnam E A, Cho M, Zinn A B, Towbin J A, Byers P H, Milewicz D M, Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene., American Journal of Medical Genetics, 62(3), 233-42, 29 Mar 1996 Abstract
  • Kwok W W, Domeier M L, Raymond F C, Byers P, Nepom G T, Allele-specific motifs characterize HLA-DQ interactions with a diabetes-associated peptide derived from glutamic acid decarboxylase., Journal of Immunology, 156(6), 2171-7, 15 Mar 1996 Abstract
  • Milewicz D M, Byers P H, Reveille J, Hughes A L, Duvic M, A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific., Journal of Molecular Evolution, 42(2), 117-23, February 1996 Abstract
  • North K N, Whiteman D A, Pepin M G, Byers P H, Cerebrovascular complications in Ehlers-Danlos syndrome type IV., Annals of Neurology, 38(6), 960-4, December 1995 Abstract
  • Culbert A A, Lowe M P, Atkinson M, Byers P H, Wallis G A, Kadler K E, Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt, Biochemical Journal, 311 ( Pt 3), 815-20, 1 Nov 1995 Abstract
  • Nunes M E, Schutt G, Kapur R P, Luthardt F, Kukolich M, Byers P, Evans J P, A second autosomal split hand/split foot locus maps to chromosome 10q24-q25., Human Molecular Genetics, 4(11), 2165-70, November 1995 Abstract
  • Byers P H, Ehlers-Danlos syndrome type IV: a genetic disorder in many guises [editorial; comment], Journal of Investigative Dermatology, 105(3), 311-3, September 1995 Abstract
  • Lamande S R, Chessler S D, Golub S B, Byers P H, Chan D, Cole W G, Sillence D O, Bateman J F, Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide whi, Journal of Biological Chemistry, 270(15), 8642-9, 14 Apr 1995 Abstract
  • Rose N J, Mackay K, Byers P H, Dalgleish R, A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III., Human Genetics, 95(2), 215-8, February 1995 Abstract
  • Lightfoot S J, Atkinson M S, Murphy G, Byers P H, Kadler K E, Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple, Journal of Biological Chemistry, 269(48), 30352-7, 2 Dec 1994 Abstract
  • Byers P H, Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity., Journal of Investigative Dermatology, 103(5 Suppl), 47S-52S, November 1994 Abstract
  • Willing M C, Deschenes S P, Scott D A, Byers P H, Slayton R L, Pitts S H, Arikat H, Roberts E J, Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen., American Journal of Human Genetics, 55(4), 638-47, October 1994 Abstract
  • Tilstra D J, Li L, Potter K A, Womack J, Byers P H, Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10., Genomics, 23(2), 480-5, 15 Sep 1994 Abstract
  • Byers P H, Molecular genetics of chondrodysplasias, including clues to development, structure, and function., Current Opinion In Rheumatology, 6(3), 345-50, May 1994 Abstract
  • Tilstra D J, Byers P H, Molecular basis of hereditary disorders of connective tissue., Annual Review of Medicine, 45, 149-63, 1994 Abstract
  • Rose N J, Mackay K, Byers P H, Dalgleish R, A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals., Human Mutation, 3(4), 391-4, 1994 Abstract
  • Rose N J, Mackay K, Byers P H, Dalgleish R, A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta., Human Molecular Genetics, 2(12), 2175-7, December 1993 Abstract
  • Grenko R T, Burns S L, Golden E A, Byers P H, Bovill E G, Type IV Ehlers-Danlos syndrome with aspirin sensitivity. A family study., Archives of Pathology and Laboratory Medicine, 117(10), 989-92, October 1993 Abstract
  • Chessler S D, Wallis G A, Byers P H, 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 imperfecta., Journal of Biological Chemistry, 268(24), 18218-25, 25 Aug 1993 Abstract
  • Chessler S D, Byers P H, BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta., Journal of Biological Chemistry, 268(24), 18226-33, 25 Aug 1993 Abstract
  • Mackay K, Byers P H, Dalgleish R, An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta., Human Molecular Genetics, 2(8), 1155-60, August 1993 Abstract
  • Milewicz D M, Witz A M, Smith A C, Manchester D K, Waldstein G, Byers P H, 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 offspring., American Journal of Human Genetics, 53(1), 62-70, July 1993 Abstract
  • LaBell T L, Byers P H, Sequence and characterization of the complete human thrombospondin 2 cDNA: potential regulatory role for the 3' untranslated region., Genomics, 17(1), 225-9, July 1993 Abstract
  • DiMaio M S, Barth R, Koprivnikar K E, Sussman B L, Copel J A, Mahoney M J, Byers P H, Cohn D H, First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography., Prenatal Diagnosis, 13(7), 589-96, July 1993 Abstract
  • Wallis G A, Sykes B, Byers P H, Mathew C G, Viljoen D, Beighton P, Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible., Journal of Medical Genetics, 30(6), 492-6, June 1993 Abstract
  • McInnes R R, Byers P H, Biochemical genetics: examples of life after cloning., Current Opinion In Genetics and Development, 3(3), 475-83, June 1993 Abstract
  • Potter K A, Hoffman Y, Sakai L Y, Byers P H, Besser T E, Milewicz D M, Abnormal fibrillin metabolism in bovine Marfan syndrome., American Journal of Pathology, 142(3), 803-10, March 1993 Abstract
  • Molyneux K, Starman B J, Byers P H, Dalgleish R, A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III., Human Genetics, 90(6), 621-8, February 1993 Abstract
  • Willing M C, Pruchno C J, Byers P H, Molecular heterogeneity in osteogenesis imperfecta type I., American Journal of Medical Genetics, 45(2), 223-7, 15 Jan 1993 Abstract
  • Cohn D H, Zhang X, Byers P H, Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta., Human Mutation, 2(1), 21-7, 1993 Abstract
  • Byers P H, Second international symposium on the Marfan syndrome, November 7-9, 1992, San Francisco, CA., Human Mutation, 2(2), 80-1, 1993 Abstract
  • Lightfoot S J, Holmes D F, Brass A, Grant M E, Byers P H, Kadler K E, Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introd, Journal of Biological Chemistry, 267(35), 25521-8, 15 Dec 1992 Abstract
  • Wallis G A, Kadler K E, Starman B J, Byers P H, 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-prote, Journal of Biological Chemistry, 267(35), 25529-34, 15 Dec 1992 Abstract
  • Niyibizi C, Bonadio J, Byers P H, Eyre D R, 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 imperfecta., Journal of Biological Chemistry, 267(32), 23108-12, 15 Nov 1992 Abstract
  • Wertelecki W, Smith L T, Byers P, Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC., Journal of Pediatrics, 121(4), 558-64, October 1992 Abstract
  • Willing M C, Pruchno C J, Atkinson M, Byers P H, Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen., American Journal of Human Genetics, 51(3), 508-15, September 1992 Abstract
  • Smith L T, Wertelecki W, Milstone L M, Petty E M, Seashore M R, Braverman I M, Jenkins T G, Byers P H, Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen., American Journal of Human Genetics, 51(2), 235-44, August 1992 Abstract
  • Byers P H, Pyeritz R E, Uitto J, Research perspectives in heritable disorders of connective tissue., Matrix, 12(4), 333-42, August 1992 Abstract
  • Watson R B, Wallis G A, Holmes D F, Viljoen D, Byers P H, Kadler K E, Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that a, Journal of Biological Chemistry, 267(13), 9093-100, 5 May 1992 Abstract
  • Chessler S D, Byers P H, 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 pattern, Journal of Biological Chemistry, 267(11), 7751-7, 15 Apr 1992 Abstract
  • LaBell T L, Milewicz D J, Disteche C M, Byers P H, Thrombospondin II: partial cDNA sequence, chromosome location, and expression of a second member of the thrombospondin gene family in humans., Genomics, 12(3), 421-9, March 1992 Abstract
  • Edwards M J, Wenstrup R J, Byers P H, Cohn D H, Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the diseas, Human Mutation, 1(1), 47-54, 1992 Abstract
  • Milewicz D M, Pyeritz R E, Crawford E S, Byers P H, Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts., Journal of Clinical Investigation, 89(1), 79-86, January 1992 Abstract
  • Byers P H, Wallis G A, Willing M C, Osteogenesis imperfecta: translation of mutation to phenotype., Journal of Medical Genetics, 28(7), 433-42, July 1991 Abstract
  • Cohn D H, Byers P H, Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta., Human Genetics, 87(2), 167-72, June 1991 Abstract
  • Pruchno C J, Cohn D H, Wallis G A, Willing M C, Starman B J, Zhang X M, Byers P H, Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen., Human Genetics, 87(1), 33-40, May 1991 Abstract
  • Vissing H, D'Alessio M, Lee B, Ramirez F, Byers P H, Steinmann B, Superti-Furga A, Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV., Journal of Biological Chemistry, 266(8), 5244-8, 15 Mar 1991 Abstract
  • Wenstrup R J, Shrago-Howe A W, Lever L W, Phillips C L, Byers P H, Cohn D H, The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix., Journal of Biological Chemistry, 266(4), 2590-4, 5 Feb 1991 Abstract
  • Cohn D H, Byers P H, Clinical screening for collagen defects in connective tissue diseases., Clinics In Perinatology, 17(4), 793-809, December 1990 Abstract
  • Wallis G A, Starman B J, Schwartz M F, Byers P H, 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, Journal of Biological Chemistry, 265(30), 18628-33, 25 Oct 1990 Abstract
  • Byers P H, Brittle bones--fragile molecules: disorders of collagen gene structure and expression., Trends In Genetics, 6(9), 293-300, September 1990 Abstract
  • Wallis G A, Starman B J, Zinn A B, Byers P H, 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 parent., American Journal of Human Genetics, 46(6), 1034-40, June 1990 Abstract
  • Wenstrup R J, Willing M C, Starman B J, Byers P H, Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta., American Journal of Human Genetics, 46(5), 975-82, May 1990 Abstract
  • Cohn D H, Starman B J, Blumberg B, Byers P H, Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)., American Journal of Human Genetics, 46(3), 591-601, March 1990 Abstract
  • Willing M C, Cohn D H, Byers P H, 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 I [published erratum appears in J Clin, Journal of Clinical Investigation, 85(1), 282-90, January 1990 Abstract
  • Superti-Furga A, Steinmann B, Byers P H, Type III collagen deficiency [letter; comment], Lancet, 1(8643), 903-4, 22 Apr 1989 Abstract

Profile Details

Last Verified: 1/25/2006

COS Expertise ID #307347
Reference this profile directly: http://myprofile.cos.com/byersp47