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Ulrike Schwarze

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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.
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.
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.

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All Publications

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.
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: 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.
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: 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.
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.
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: 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.
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.
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.
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.
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: 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.