Associated Papers
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia.
Zaripova AR et al.
Clinical Genetics, 2026
Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation
Özen S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Osteogenesis imperfecta type VIII: highlighting the need for genetic testing.
Mariki H et al.
Bmj Case Reports, 2023
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Mikhail KA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Zhytnik L et al.
Genes, 2022
Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.
Bala MM et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
A new case of osteogenesis imperfecta type VIII and retinal detachment.
de Souza LT et al.
American Journal of Medical Genetics. Part A, 2021
A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX.
Zhu W et al.
Frontiers in Genetics, 2021
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Fernandes AM 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, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.
Caudevilla Lafuente P et al.
Medicina Clinica, 2019
Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
Ferretti L et al.
European Journal of Medical Genetics, 2019
A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations.
Santana A et al.
Bone Reports, 2018
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O et al.
Molecular Genetics & Genomic Medicine, 2018
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
Fratzl-Zelman N et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C et al.
Genetics and Molecular Research : Gmr, 2015
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Pepin MG et al.
Molecular Genetics & Genomic Medicine, 2013
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Barnes AM et al.
Human Mutation, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Pyott SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
Chang W et al.
Human Molecular Genetics, 2010
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC et al.
Cell and Tissue Research, 2010
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D et al.
Human Mutation, 2008
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Cabral WA et al.
Nature Genetics, 2007
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
van Dijk FS et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Osteogenesis imperfecta in Brazilian patients.
Trancozo M et al.
Genetics and Molecular Biology, 0
Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.
Zerfu T et al.
Journal of Pediatric Orthopedics, 0