Roles of the endoplasmic reticulum–resident, collagen-specific molecular chaperone Hsp47 in vertebrate cells and human disease
S Ito, K Nagata - Journal of Biological Chemistry, 2019 - ASBMB
Heat shock protein 47 (Hsp47) is an endoplasmic reticulum (ER)-resident molecular
chaperone essential for correct folding of procollagen in mammalian cells. In this Review …
chaperone essential for correct folding of procollagen in mammalian cells. In this Review …
The evolution of the nosology of osteogenesis imperfecta
M Chetty, IA Roomaney, P Beighton - Clinical Genetics, 2021 - Wiley Online Library
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
Osteogenesis imperfecta (OI) is characterized primarily by susceptibility to fractures with or
without bone deformation. OI is genetically heterogeneous: over 20 genetic causes are …
without bone deformation. OI is genetically heterogeneous: over 20 genetic causes are …
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes
R Besio, CW Chow, F Tonelli, JC Marini… - The FEBS …, 2019 - Wiley Online Library
The limited accessibility of bone and its mineralized nature have restricted deep
investigation of its biology. Recent breakthroughs in identification of mutant proteins …
investigation of its biology. Recent breakthroughs in identification of mutant proteins …
Reproductive options for families at risk of Osteogenesis Imperfecta: a review
L Zhytnik, K Simm, A Salumets, M Peters… - Orphanet journal of rare …, 2020 - Springer
Abstract Background Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone
fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness …
fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness …
Comprehensive evaluation of FKBP10 expression and its prognostic potential in gastric cancer
L Liang, K Zhao, JH Zhu, G Chen… - Oncology …, 2019 - spandidos-publications.com
FK506 binding protein 10 (FKBP10) has been reported to be dysregulated in numerous
types of cancer; however, few reports have investigated FKBP10 in gastric cancer (GC). The …
types of cancer; however, few reports have investigated FKBP10 in gastric cancer (GC). The …
Osteogenesis imperfecta in 140 Turkish families: molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
Background Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous
group of diseases characterized by increased bone fragility and deformities. Although most …
group of diseases characterized by increased bone fragility and deformities. Although most …
IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
L Zhytnik, K Maasalu, BH Duy, A Pashenko… - Human genomics, 2019 - Springer
Background Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is
classified into five types; however, the genetic causes of OI might hide in pathogenic variants …
classified into five types; however, the genetic causes of OI might hide in pathogenic variants …
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta
L Xi, H Zhang, ZL Zhang - Journal of Bone and Mineral Metabolism, 2021 - Springer
Introduction Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective
tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI …
tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI …
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 …
with OI, we conducted comprehensive genetic analyses using NGS, as this had not been …