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Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Prenatal diagnosis of bone dysplasias
Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025.ABSTRACTBone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood sampl...
Source: The British Journal of Radiology - June 23, 2023 Category: Radiology Authors: Gen Nishimura Atsuhiko Handa Osamu Miyazaki Yuko Tsujioka Jun Murotsuki Hideaki Sawai Takahiro Yamada Yutaka Kozuma Yuichiro Takahashi Katsunori Ozawa Ritusuko Pooh Masakatsu Sase Source Type: research

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research

Temporal Profiling of Epitranscriptomic Modulators during Osteogenic Differentiation of Human Embryonic Stem Cells
J Proteome Res. 2023 Jun 22. doi: 10.1021/acs.jproteome.3c00215. Online ahead of print.ABSTRACTOsteogenesis is modulated by multiple regulatory networks. Recent studies showed that RNA modifications and their reader, writer, and eraser (RWE) proteins are involved in regulating various biological processes. Few studies, however, were conducted to investigate the functions of RNA modifications and their RWE proteins in osteogenesis. By using LC-MS/MS in parallel-reaction monitoring (PRM) mode, we performed a comprehensive quantitative assessment of 154 epitranscriptomic RWE proteins throughout the entire time course of osteo...
Source: Cell Research - June 22, 2023 Category: Cytology Authors: Jiekai Yin Tianyu F Qi Yen-Yu Yang Madeline Vera-Col ón Nicole I Zur Nieden Yinsheng Wang Source Type: research

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research