Peter H. Byers mostly deals with Genetics, Mutation, Ehlers–Danlos syndrome, Osteogenesis imperfecta and Procollagen peptidase. The concepts of his Mutation study are interwoven with issues in Extracellular matrix, Haploinsufficiency and Genotype. As part of the same scientific family, Peter H. Byers usually focuses on Ehlers–Danlos syndrome, concentrating on Genetic heterogeneity and intersecting with Pathology, Ultrastructure, Dermis, Computational biology and Novel gene.
His biological study spans a wide range of topics, including Type I collagen, Mutation, Germline mosaicism and Cell biology. His Type I collagen research is multidisciplinary, incorporating elements of Protein structure, Biochemistry, Molecular biology and Mutant. He has researched Procollagen peptidase in several fields, including Endoplasmic reticulum, Point mutation and Protein precursor.
Osteogenesis imperfecta, Genetics, Ehlers–Danlos syndrome, Type I collagen and Procollagen peptidase are his primary areas of study. His research investigates the connection between Osteogenesis imperfecta and topics such as Internal medicine that intersect with problems in Cardiology. His Genetics study frequently intersects with other fields, such as Molecular biology.
Pathology covers he research in Ehlers–Danlos syndrome. His study in Type I collagen is interdisciplinary in nature, drawing from both Alpha and Mutant. His studies in Procollagen peptidase integrate themes in fields like Amino acid, Secretion, Biochemistry, Collagen, type I, alpha 1 and Protein precursor.
His primary areas of study are Osteogenesis imperfecta, Genetics, Ehlers–Danlos syndrome, Internal medicine and Pediatrics. His research integrates issues of Clinical research, Type I collagen, Phenotype, Disease and Cohort in his study of Osteogenesis imperfecta. His study in Gene, Allele, Mutation, Exon and Missense mutation are all subfields of Genetics.
His Exon research incorporates elements of Molecular biology and Compound heterozygosity. Peter H. Byers combines subjects such as Joint hypermobility, Retrospective cohort study and Bioinformatics with his study of Ehlers–Danlos syndrome. His Internal medicine research includes elements of Endocrinology, Haploinsufficiency and Cardiology.
Peter H. Byers mainly focuses on Genetics, Osteogenesis imperfecta, Ehlers–Danlos syndrome, Exome sequencing and Bioinformatics. His work in Allele, Mutation, Missense mutation, Gene and Genetic testing is related to Genetics. His research in Mutation focuses on subjects like Type I collagen, which are connected to Osteoblast, Heterozygote advantage, Procollagen peptidase and Lysyl hydroxylase.
The Osteogenesis imperfecta study combines topics in areas such as Prenatal diagnosis, Genetic heterogeneity, Surgery and Cohort. His Ehlers–Danlos syndrome study incorporates themes from Joint hypermobility, Young adult, Natural history, Uterine rupture and Family history. The Joint hypermobility study which covers Pathology that intersects with Novel gene.
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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart L. Loeys;Bart L. Loeys;Ulrike Schwarze;Tammy Holm;Bert L. Callewaert.
The New England Journal of Medicine (2006)
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
Melanie Pepin;Ulrike Schwarze;Andrea Superti-Furga;Peter H. Byers.
The New England Journal of Medicine (2000)
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
Joan C. Marini;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes.
Human Mutation (2007)
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait;Clair Francomano;Peter H Byers;John Belmont.
American Journal of Medical Genetics Part C-seminars in Medical Genetics (2017)
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Roy Morello;Terry K. Bertin;Yuqing Chen;Yuqing Chen;John Hicks.
The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape.
Benjamin M Schaefer;Mark B Lewin;Karen K Stout;Edward Gill.
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
Joel R. Chamberlain;Ulrike Schwarze;Pei Rong Wang;Roli K. Hirata.
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
Alain Colige;Aleksander L. Sieron;Shi Wu Li;Ulrike Schwarze.
American Journal of Human Genetics (1999)
Osteogenesis imperfecta: translation of mutation to phenotype.
Peter H. Byers;Gillian A. Wallis;Marcia Willing.
Journal of Medical Genetics (1991)
Correlation of procollagen mRNA levels in normal and transformed chick embryo fibroblasts with different rates of procollagen synthesis.
David W. Rowe;Robert C. Moen;Jeffrey M. Davidson;Peter H. Byers.
Profile was last updated on December 6th, 2021.
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