Associated Papers
Missense mutation of BMP1 may cause feline osteogenesis imperfecta without bone deformity.
Takanosu M et al.
Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc, 2026
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.
Campanini EH et al.
Bone Reports, 2021
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.
Choksi IN et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O et al.
Molecular Genetics & Genomic Medicine, 2018
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.
Sangsin A et al.
Bmc Medical Genetics, 2017
Mammalian tolloid proteinases: role in growth factor signalling.
Troilo H et al.
Febs Letters, 2016
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
Syx D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Cho SY et al.
Human Mutation, 2015
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.
Fahiminiya S et al.
Human Molecular Genetics, 2015
Bone Morphogenetic Protein (BMP) signaling in development and human diseases.
Wang RN et al.
Genes & Diseases, 2014
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.
Valencia M et al.
American Journal of Medical Genetics. Part A, 2014
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
Rohrbach M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
[Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
Galicka A
Postepy Higieny I Medycyny Doswiadczalnej (online), 2012
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Martínez-Glez V et al.
Human Mutation, 2012