[HTML][HTML] Bioinspired mineralized collagen scaffolds for bone tissue engineering

Z Li, T Du, C Ruan, X Niu - Bioactive materials, 2021 - Elsevier
Successful regeneration of large segmental bone defects remains a major challenge in
clinical orthopedics, thus it is of important significance to fabricate a suitable alternative …

Collagen transport and related pathways in Osteogenesis Imperfecta

L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone
fragility and deformities as the main characteristics, albeit with different degrees of severity …

Osteogenesis imperfecta in 140 Turkish families: molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

B Tüysüz, L Elkanova, DU Alkaya, Ç Güleç, G Toksoy… - Bone, 2022 - Elsevier
Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous
group of diseases characterized by increased bone fragility and deformities. Although most …

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis …

Y Ohata, S Takeyari, Y Nakano, T Kitaoka… - Osteoporosis …, 2019 - Springer
To elucidate mutation spectrum and genotype-phenotype correlations in Japanese patients
with OI, we conducted comprehensive genetic analyses using NGS, as this had not been …

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

C Kuptanon, C Srichomthong, A Sangsin… - BMC Medical …, 2018 - Springer
Background WNT1 mutations cause bone fragility as well as brain anomalies. There are
some reported cases of WNT1 mutations with normal cognition. Genotype and phenotype …