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Peter Byers

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Shawna M Pyott; Joshua D Smith; Renee T Temme; Thao T Tran; Emily H Turner; Ishwar Verma; Solaf M Elsayed; Ezzat Elsobky; Bridget A Fernandez; Gail P Jarvik; Dru F Leistritz; Nancy J Mendelsohn; Sreelata Nair; Melanie Pepin; Peter H Byers
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta.
Peter H Byers; Mitzi L Murray
Heritable collagen disorders: the paradigm of the ehlers-danlos syndrome.
Dru F Leistritz; Melanie Pepin; Ulrike Schwarze; Peter H Byers
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.

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2013: Shawna M Pyott; Joshua D Smith; Renee T Temme; Thao T Tran; Emily H Turner; Ishwar Verma; Solaf M Elsayed; Ezzat Elsobky; Bridget A Fernandez; Gail P Jarvik; Dru F Leistritz; Nancy J Mendelsohn; Sreelata Nair; Melanie Pepin; Peter H Byers
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta.
American journal of human genetics 2013;92(4):590-7.
2012: Peter H Byers; Mitzi L Murray
Heritable collagen disorders: the paradigm of the ehlers-danlos syndrome.
The Journal of investigative dermatology 2012;132(E1):E6-E11.
2011: Dru F Leistritz; Melanie Pepin; Ulrike Schwarze; Peter H Byers
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(8):717-22.
2011: Shawna M Pyott; Ulrike Schwarze; Helena E Christiansen; Melanie Pepin; Dru F Leistritz; Richard Dineen; Catharine Harris; Barbara K Burton; Brad Angle; Katherine Kim; Michael D Sussman; Maryann Weis; David R Eyre; David W Russell; Kevin J McCarthy; Robert D Steiner; Peter H Byers
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Human molecular genetics 2011;20(8):1595-609.
2011: Shawna M Pyott; Melanie Pepin; Ulrike Schwarze; Kathleen Yang; Gretchen Smith; Peter H Byers
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(2):125-30.
2010: Helena E Christiansen; Ulrike Schwarze; Shawna M Pyott; Abdulrahman Alswaid; Mohammed Al Balwi; Shatha Alrasheed; Melanie Pepin; Mary Ann Weis; David R Eyre; Peter H Byers
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
American journal of human genetics 2010;86(3):389-98.
2010: Dustin Baldridge; Jennifer Lennington; MaryAnn Weis; Erica P Homan; Ming-Ming Jiang; Elda Munivez; Douglas R Keene; William R Hogue; Shawna Pyott; Peter H Byers; Deborah Krakow; Daniel H Cohn; David R Eyre; Brendan Lee; Roy Morello
Generalized connective tissue disease in Crtap-/- mouse.
PloS one 2010;5(5):e10560.
2008: Dustin Baldridge; Ulrike Schwarze; Roy Morello; Jennifer Lennington; Terry K Bertin; James M Pace; Melanie G Pepin; Maryann Weis; David R Eyre; Jennifer Walsh; Deborah Lambert; Andrew Green; Haynes Robinson; Melonie Michelson; Gunnar Houge; Carl Lindman; Judith Martin; Jewell Ward; Emmanuelle Lemyre; John J Mitchell; Deborah Krakow; David L Rimoin; Daniel H Cohn; Peter H Byers; Brendan Lee
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Human mutation 2008;29(12):1435-42.
2008: James M Pace; Mary Wiese; Andrea S Drenguis; Natalia Kuznetsova; Sergey Leikin; Ulrike Schwarze; Diana Chen; Suzanne H Mooney; Sheila Unger; Peter H Byers
Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.
The Journal of biological chemistry 2008;283(23):16061-7.
2008: William S Kerwin; Melanie Pepin; Lee M Mitsumori; Vasily L Yarnykh; Ulrike Schwarze; Peter H Byers
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
The international journal of cardiovascular imaging 2008;24(5):519-28.
2008: Joel R Chamberlain; David R Deyle; Ulrike Schwarze; Peirong Wang; Roli K Hirata; Yi Li; Peter H Byers; David W Russell
Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(1):187-93.
2007: Rebecca Hjorten; Uwe Hansen; Robert Underwood; Helena E Telfer; Russell J Fernandes; Deborah Krakow; Eiman Sebald; Sebastian Wachsmann-Hogiu; Peter Bruckner; Robin Jacquet; William J Landis; Peter H Byers; James M Pace
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.
Bone 2007;41(4):535-42.
2007: Joan C Marini; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; James D San Antonio; Sarah Milgrom; James C Hyland; Jarmo Körkkö; Darwin J Prockop; Anne De Paepe; Paul Coucke; Sofie Symoens; Francis H Glorieux; Peter J Roughley; Alan M Lund; Kaija Kuurila-Svahn; Heini Hartikka; Daniel H Cohn; Deborah Krakow; Monica Mottes; Ulrike Schwarze; Diana Chen; Kathleen Yang; Christine Kuslich; James F Troendle; Raymond Dalgleish; Peter H Byers
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Human mutation 2007;28(3):209-21.
2006: Roy Morello; Terry K Bertin; Yuqing Chen; John Hicks; Laura Tonachini; Massimiliano Monticone; Patrizio Castagnola; Frank Rauch; Francis H Glorieux; Janice A Vranka; Hans Peter Bächinger; James M Pace; Ulrike Schwarze; Peter H Byers; MaryAnn Weis; Russell J Fernandes; David R Eyre; Zhenqiang Yao; Brendan F Boyce; Brendan Lee
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Cell 2006;127(2):291-304.
2006: Bart Loeys; Ulrike Schwarze; Tammy M Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne De Paepe; Harry C Dietz
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
The New England journal of medicine 2006;355(8):788-98.
2006: Peter H Byers; Deborah Krakow; Mark E Nunes; Melanie Pepin
Genetic evaluation of suspected osteogenesis imperfecta (OI).
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(6):383-8.
2006: Peter H Byers
2005 ASHG Award for Excellence in Human Genetics Education. Introductory speech of Joseph D. McInerney.
American journal of human genetics 2006;78(3):373.
2006: Peter H Byers
2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discuss.
American journal of human genetics 2006;78(3):368-72.
2005: Annie C Singleton; Anna L Mitchell; Peter H Byers; Kathleen A Potter; James M Pace
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-1.
Human mutation 2005;25(4):348-52.
2004: Anton V Persikov; Rian J Pillitteri; Priyal Amin; Ulrike Schwarze; Peter H Byers; Barbara Brodsky
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
Human mutation 2004;24(4):330-7.
2004: Peter H Byers
Determination of the molecular basis of Marfan syndrome: a growth industry.
The Journal of clinical investigation 2004;114(2):161-3.
2004: Ulrike Schwarze; Ryu-Ichiro Hata; Victor A McKusick; Hiroshi Shinkai; H Eugene Hoyme; Reed E Pyeritz; Peter H Byers
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 2004;74(5):917-30.
2004: Joel R Chamberlain; Ulrike Schwarze; Pei-Rong Wang; Roli K Hirata; Kurt D Hankenson; James M Pace; Robert Underwood; Kit M Song; Michael Sussman; Peter H Byers; David W Russell
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
Science (New York, N.Y.) 2004;303(5661):1198-201.
2004: Frank J Kaiser; Paola Brega; Michael L Raff; Peter H Byers; Sabina Gallati; Teresa Taylor Kay; Salomé de Almeida; Bernhard Horsthemke; Hermann-Josef Lüdecke
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
European journal of human genetics : EJHG 2004;12(2):121-6.
2003: Silvia Palmeri; Francesca Mari; Ilaria Meloni; Alessandro Malandrini; Francesca Ariani; M Villanova; A Pompilio; Ulrike Schwarze; Peter H Byers; Alessandra Renieri
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
Clinical genetics 2003;63(6):510-5.
2003: James M Pace; Marcella Corrado; Caterina Missero; Peter H Byers
Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.
Matrix biology : journal of the International Society for Matrix Biology 2003;22(1):3-14.
2002: Kazuhiko Takahara; Ulrike Schwarze; Yasutada Imamura; Guy G Hoffman; Helga Toriello; Lynne T Smith; Peter H Byers; Daniel S Greenspan
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 2002;71(3):451-65.
2002: Hideki Chuman; Jonathan D Trobe; Elizabeth M Petty; Ulrike Schwarze; Melanie Pepin; Peter H Byers; John P Deveikis
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 2002;22(2):75-81.
2002: A Marlowe; Melanie Pepin; Peter H Byers
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury.
Journal of medical genetics 2002;39(6):382-6.
2002: James M Pace; D Chitayat; M Atkinson; W R Wilcox; Ulrike Schwarze; Peter H Byers
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 2002;39(1):23-9.
2002: Peter H Byers
Killing the messenger: new insights into nonsense-mediated mRNA decay.
The Journal of clinical investigation 2002;109(1):3-6.
2001: Ulrike Schwarze; W I Schievink; Elizabeth M Petty; M R Jaff; D Babovic-Vuksanovic; K J Cherry; Melanie Pepin; Peter H Byers
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 IV.
American journal of human genetics 2001;69(5):989-1001.
2001: James M Pace; M Atkinson; M C Willing; G Wallis; Peter H Byers
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 imperfecta.
Human mutation 2001;18(4):319-26.
2001: James M Pace; C D Kuslich; M C Willing; Peter H Byers
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 imperfecta.
Journal of medical genetics 2001;38(7):443-9.
2001: Peter H Byers
Folding defects in fibrillar collagens.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2001;356(1406):151-7; discussion 157-8.
2001: R Cubert; E Y Cheng; S Mack; Melanie Pepin; Peter H Byers
Osteogenesis imperfecta: mode of delivery and neonatal outcome.
Obstetrics and gynecology 2001;97(1):66-9.
2000: Peter H Byers
Osteogenesis imperfecta: perspectives and opportunities.
Current opinion in pediatrics 2000;12(6):603-9.
2000: Peter H Byers
Collagens: building blocks at the end of the development line.
Clinical genetics 2000;58(4):270-9.
2000: Ulrike Schwarze; M Atkinson; Guy G Hoffman; Daniel S Greenspan; Peter H Byers
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 2000;66(6):1757-65.
2000: Melanie Pepin; Ulrike Schwarze; andrea superti-furga; Peter H Byers
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
The New England journal of medicine 2000;342(10):673-80.
2000: M L Raff; W J Craigen; Lynne T Smith; D R Keene; Peter H Byers
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
Human genetics 2000;106(1):19-28.
1999: Ulrike Schwarze; B J Starman; Peter H Byers
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 mutation.
American journal of human genetics 1999;65(2):336-44.
1999: Alain Colige; A L Sieron; Shi-Wu Li; Ulrike Schwarze; Elizabeth M Petty; W Wertelecki; William R Wilcox; Deborah Krakow; Daniel H Cohn; W Reardon; Peter H Byers; Charles M Lapière; Darwin J Prockop; Betty Nusgens
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
American journal of human genetics 1999;65(2):308-17.
1999: Dawna M Gilchrist; Ulrike Schwarze; K Shields; Linda MacLaren; PJ Bridge; Peter H Byers
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 affected relatives.
American journal of medical genetics 1999;82(4):305-11.
1999: Margaret H Collins; Ulrike Schwarze; David F Carpentieri; P Kaplan; K Nathanson; J S Meyer; Peter H Byers
Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 1999;2(1):86-93.
1998: Peter H Byers; J Ashkenas
Pedigrees-publish? or perish the thought?
American journal of human genetics 1998;63(3):678-81.
1998: M Qi; Peter H Byers
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 1998;7(3):465-9.
1997: Ulrike Schwarze; J A Goldstein; Peter H Byers
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 1997;61(6):1276-86.
1997: Peter H Byers; M Duvic; M Atkinson; M Robinow; Lynne T Smith; S M Krane; M T Greally; M Ludman; R Matalon; S Pauker; D Quanbeck; Ulrike Schwarze
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 1997;72(1):94-105.
1997: J Ashkenas; Peter H Byers
The final stage of gene expression: chaperones and the regulation of protein fate.
American journal of human genetics 1997;61(2):267-72.
1997: Melanie Pepin; M Atkinson; B J Starman; Peter H Byers
Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies.
Prenatal diagnosis 1997;17(6):559-70.
1997: Lynne T Smith; Ulrike Schwarze; J Goldstein; Peter H Byers
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.
The Journal of investigative dermatology 1997;108(3):241-7.
1996: M L Raff; Peter H Byers
Joint hypermobility syndromes.
Current opinion in rheumatology 1996;8(5):459-66.
1996: Malcolm E Legget; T A Unger; C K O'Sullivan; T R Zwink; R L Bennett; Peter H Byers; Catherine M Otto
Aortic root complications in Marfan's syndrome: identification of a lower risk group.
Heart (British Cardiac Society) 1996;75(4):389-95.
1996: Robert D Steiner; M Pepin; Peter H Byers
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta.
The Journal of pediatrics 1996;128(4):542-7.
1995: A A Culbert; M P Lowe; M Atkinson; Peter H Byers; G A Wallis; Karl Kadler
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 the ability of collagen fibrils to incorporate crystalline hydroxyapatite.
The Biochemical journal 1995;311 ( Pt 3)():815-20.
1995: Peter H Byers
Etiology of osteogenesis imperfecta: an overview of biochemical and molecular genetic analyses.
Connective tissue research 1995;31(4):257-9.
1995: Peter H Byers; J C Marini; L Gerber
Frontiers in rehabilitation medicine: osteogenesis imperfecta, overview of a conference.
Connective tissue research 1995;31(4):253-5.
1994: S J Lightfoot; M S Atkinson; G Murphy; Peter H Byers; Karl Kadler
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 helix that does not alter cleavage of the molecule by procollagen N-proteinase.
The Journal of biological chemistry 1994;269(48):30352-7.
1994: Peter H Byers
Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.
The Journal of investigative dermatology 1994;103(5 Suppl):47S-52S.
1994: Marcia C Willing; S P Deschenes; Daryl A Scott; Peter H Byers; R L Slayton; S H Pitts; H Arikat; E J Roberts
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
American journal of human genetics 1994;55(4):638-47.
1994: D J Tilstra; Linheng Li; K A Potter; J Womack; Peter H Byers
Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10.
Genomics 1994;23(2):480-5.
1994: Peter H Byers
Molecular genetics of chondrodysplasias, including clues to development, structure, and function.
Current opinion in rheumatology 1994;6(3):345-50.
1994: D J Tilstra; Peter H Byers
Molecular basis of hereditary disorders of connective tissue.
Annual review of medicine 1994;45():149-63.
1993: Steven D Chessler; Peter H Byers
BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.
The Journal of biological chemistry 1993;268(24):18226-33.
1993: Steven D Chessler; G A Wallis; Peter H Byers
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.
The Journal of biological chemistry 1993;268(24):18218-25.
1993: T L LaBell; Peter H Byers
Sequence and characterization of the complete human thrombospondin 2 cDNA: potential regulatory role for the 3' untranslated region.
Genomics 1993;17(1):225-9.
1993: D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; Peter H Byers
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 1993;53(1):62-70.
1993: G A Wallis; B Sykes; Peter H Byers; C G Mathew; D Viljoen; Peter Beighton
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
Journal of medical genetics 1993;30(6):492-6.
1993: Marcia C Willing; C J Pruchno; Peter H Byers
Molecular heterogeneity in osteogenesis imperfecta type I.
American journal of medical genetics 1993;45(2):223-7.
1993: Peter H Byers
Second international symposium on the Marfan syndrome, November 7-9, 1992, San Francisco, CA.
Human mutation 1993;2(2):80-1.
1993: Daniel H Cohn; X Zhang; Peter H Byers
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.
Human mutation 1993;2(1):21-7.
1992: G A Wallis; Karl Kadler; B J Starman; Peter H Byers
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-proteinase.
The Journal of biological chemistry 1992;267(35):25529-34.
1992: S J Lightfoot; David F Holmes; Andrew Brass; Michael E Grant; Peter H Byers; Karl Kadler
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 introduces a kink in the molecule.
The Journal of biological chemistry 1992;267(35):25521-8.
1992: C Niyibizi; J Bonadio; Peter H Byers; David R Eyre
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.
The Journal of biological chemistry 1992;267(32):23108-12.
1992: Marcia C Willing; C J Pruchno; M Atkinson; Peter H Byers
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
American journal of human genetics 1992;51(3):508-15.
1992: Lynne T Smith; W Wertelecki; L M Milstone; Elizabeth M Petty; Margretta R Seashore; I M Braverman; T G Jenkins; Peter H Byers
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 1992;51(2):235-44.
1992: Peter H Byers; R E Pyeritz; J Uitto
Research perspectives in heritable disorders of connective tissue.
Matrix (Stuttgart, Germany) 1992;12(4):333-42.
1992: R B Watson; G A Wallis; David F Holmes; D Viljoen; Peter H Byers; Karl Kadler
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 are near circular in cross-section.
The Journal of biological chemistry 1992;267(13):9093-100.
1992: Steven D Chessler; Peter H Byers
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.
The Journal of biological chemistry 1992;267(11):7751-7.
1992: T L LaBell; D J Milewicz; Christine M Disteche; Peter H Byers
Thrombospondin II: partial cDNA sequence, chromosome location, and expression of a second member of the thrombospondin gene family in humans.
Genomics 1992;12(3):421-9.
1992: D M Milewicz; R E Pyeritz; E S Crawford; Peter H Byers
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.
The Journal of clinical investigation 1992;89(1):79-86.
1992: Peter H Byers; Robert D Steiner
Osteogenesis imperfecta.
Annual review of medicine 1992;43():269-82.
1992: M J Edwards; R J Wenstrup; Peter H Byers; Daniel H Cohn
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 disease.
Human mutation 1992;1(1):47-54.
1991: Peter H Byers; G A Wallis; Marcia C Willing
Osteogenesis imperfecta: translation of mutation to phenotype.
Journal of medical genetics 1991;28(7):433-42.
1991: Daniel H Cohn; Peter H Byers
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 1991;87(2):167-72.
1991: C J Pruchno; Daniel H Cohn; G A Wallis; Marcia C Willing; B J Starman; X M Zhang; Peter H Byers
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
Human genetics 1991;87(1):33-40.
1991: R J Wenstrup; A W Shrago-Howe; L W Lever; C L Phillips; Peter H Byers; Daniel H Cohn
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.
The Journal of biological chemistry 1991;266(4):2590-4.
1990: G A Wallis; B J Starman; M F Schwartz; Peter H Byers
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 secretion.
The Journal of biological chemistry 1990;265(30):18628-33.
1990: Peter H Byers
Brittle bones--fragile molecules: disorders of collagen gene structure and expression.
Trends in genetics : TIG 1990;6(9):293-300.
1990: G A Wallis; B J Starman; A B Zinn; Peter H Byers
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 1990;46(6):1034-40.
1990: R J Wenstrup; Marcia C Willing; B J Starman; Peter H Byers
Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
American journal of human genetics 1990;46(5):975-82.
1990: Daniel H Cohn; B J Starman; B Blumberg; Peter H Byers
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 1990;46(3):591-601.
1990: Marcia C Willing; Daniel H Cohn; Peter H Byers
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.
The Journal of clinical investigation 1990;85(1):282-90.
1989: B J Starman; David R Eyre; H Charbonneau; M Harrylock; Mary Ann Weis; L Weiss; J M Graham; Peter H Byers
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 phenotype.
The Journal of clinical investigation 1989;84(4):1206-14.
1989: Peter H Byers
Inherited disorders of collagen gene structure and expression.
American journal of medical genetics 1989;34(1):72-80.
1989: K A Holbrook; Peter H Byers
Skin is a window on heritable disorders of connective tissue.
American journal of medical genetics 1989;34(1):105-21.
1989: Peter H Byers
Molecular heterogeneity in chondrodysplasias.
American journal of human genetics 1989;45(1):1-4.
1988: Daniel H Cohn; S Apone; David R Eyre; B J Starman; P Andreassen; H Charbonneau; A C Nicholls; F M Pope; Peter H Byers
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
The Journal of biological chemistry 1988;263(29):14605-7.
1988: Marcia C Willing; Daniel H Cohn; B Starman; K A Holbrook; C R Greenberg; Peter H Byers
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 imperfecta.
The Journal of biological chemistry 1988;263(17):8398-404.
1988: Peter H Byers; B J Starman; Daniel H Cohn; Allen L. Horwitz
A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1).
The Journal of biological chemistry 1988;263(16):7855-61.
1988: R J Wenstrup; Daniel H Cohn; T Cohen; Peter H Byers
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 phenotype.
The Journal of biological chemistry 1988;263(16):7734-40.
1988: Peter H Byers; Petros Tsipouras; J Bonadio; B J Starman; R C Schwartz
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.
American journal of human genetics 1988;42(2):237-48.
1988: Daniel H Cohn; Peter H Byers
Osteogenesis imperfecta and other inherited disorders of the structure and synthesis of type I collagen: models for the analysis of mutations that result in inherited chondrodysplasias.
Pathology and immunopathology research 1988;7(1-2):132-8.
1988: Daniel H Cohn; R J Wenstrup; Marcia C Willing; J Bonadio; Peter H Byers
General strategies for isolating the genes encoding type I collagen and for characterizing mutations which produce osteogenesis imperfecta.
Annals of the New York Academy of Sciences 1988;543():129-35.
1988: Peter H Byers; J Bonadio; Daniel H Cohn; B J Starman; R J Wenstrup; Marcia C Willing
Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.
Annals of the New York Academy of Sciences 1988;543():117-28.
1987: Peter H Byers; R J Wenstrup; J F Bonadio; B Starman; Daniel H Cohn
Molecular basis of inherited disorders of collagen biosynthesis: implications for prenatal diagnosis.
Current problems in dermatology 1987;16():158-74.
1986: Petros Tsipouras; Peter H Byers; R C Schwartz; M L Chu; D Weil; G Pepe; S B Cassidy; F Ramirez
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
Human genetics 1986;74(1):41-6.