Report of a familial case of proatlas segmentation abnormality with late clinical onset

Umegaki, Masao; Miyao, Yasuyoshi; Sasaki, Masaru; Yoshimura, Kazuhiro; Iwatsuki, Koichi; Yoshimine, Toshiki

doi:10.1016/j.jocn.2016.12.010

Cited by 2 publications

(3 citation statements)

References 8 publications

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“…Rare diseases that occur in humans called Proatlas Segmentation Anomalies OMIM: 109500 are thought to be caused by failure in the proatlas sclerotome, which will partially go on to form the C1 VB, to undergo resegmentation. These disorders result in dysplasia within the craniovertebral junction and can manifest in various ways clinically, such as cervical VB fusion and ventral brain stem compression (Muthukumar, 2016; Spittank et al, 2016; Umegaki et al, 2017). Klippel-Feil Syndrome (OMIM: 613702), where patients suffer from cervical vertebral fusion due to lack of IVD formation, has also been associated with a disruption in resegmentation and mutations in the GDF6 gene (Tassabehji et al, 2008).…”

Section: Development Of Somite Derived Structuresmentioning

confidence: 99%

Development of the axial skeleton and intervertebral disc

Williams

Alkhatib

Serra

2019

Vertebrate Skeletal Development

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Development of the axial skeleton is a complex, stepwise process that relies on intricate signaling and coordinated cellular differentiation. Disruptions to this process can result in a myriad of skeletal malformations that range in severity. The notochord and the sclerotome are embryonic tissues that give rise to the major components of the intervertebral discs and the vertebral bodies of the spinal column. Through a number of mouse models and characterization of congenital abnormalities in human patients, various growth factors, transcription factors, and other signaling proteins have been demonstrated to have critical roles in the development of the axial skeleton. Balance between opposing growth factors as well as other environmental cues allows for cell fate specification and divergence of tissue types during development. Furthermore, characterization of progenitor cells for specific cell lineages has furthered the understanding of specific spatiotemporal cues that cells need in order to initiate and complete development of distinct tissues. Identifying specific marker genes that can distinguish between the various embryonic and mature cell types is also of importance. Clinically, understanding developmental clues can aid in the generation of therapeutics for musculoskeletal disease through the process of developmental engineering. Studies into potential stem cell therapies are based on knowledge of the normal processes that occur in the embryo, which can then be applied to stepwise tissue engineering strategies.

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Section: Development Of Somite Derived Structuresmentioning

confidence: 99%

Development of the axial skeleton and intervertebral disc

Williams

Alkhatib

Serra

2019

Vertebrate Skeletal Development

View full text Add to dashboard Cite

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“…Failure of the proatlas sclerotome, which will partially go on to form the C1 vertebrae, to resegment results in rare disorders observed in humans called Proatlas Segmentation Anomalies (PSA) OMIM: 109500. These disorders result in the malformation of the proatlas and thus dysplasia within the craniovertebral junction [44*, 45*, 46*]. Effects of this disorder can manifest in various ways clinically, such as cervical vertebrae fusion and ventral brain stem compression [46, 44].…”

Section: Development Of Vertebral Body and Annulus Fibrosusmentioning

confidence: 99%

“…These disorders result in the malformation of the proatlas and thus dysplasia within the craniovertebral junction [44*, 45*, 46*]. Effects of this disorder can manifest in various ways clinically, such as cervical vertebrae fusion and ventral brain stem compression [46, 44]. Klippel-Feil Syndrome OMIM: 613702, where patients suffer from a short, truncated neck and cervical vertebrae fusion, has also been associated with a disruption in resegmentation [47].…”

Section: Development Of Vertebral Body and Annulus Fibrosusmentioning

confidence: 99%

IVD Development: Nucleus Pulposus Development and Sclerotome Specification

et al. 2018

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Purpose of review Intervertebral discs (IVD) are derived from embryonic notochord and sclerotome. The nucleus pulposus is derived from notochord while other connective tissues of the spine are derived from sclerotome. This manuscript will review the past 5 years of research into IVD development. Recent findings Over the past several years, advances in understanding the step-wise process that govern development of the nucleus pulposus and the annulus fibrosus have been made. Generation of tissues from induced or embryonic stem cells into nucleus pulposus and paraxial mesoderm derived tissues has been accomplished in vitro using pathways identified in normal development. A balance between BMP and TGF-β signaling as well as transcription factors including Pax1/Pax9, Mkx and Nkx3.2 appear to be very important for cell fate decisions generating tissues of the IVD. Summary Understanding how the IVD develops will provide the foundation for future repair, regeneration, and tissue engineering strategies for IVD disease.

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Report of a familial case of proatlas segmentation abnormality with late clinical onset

Cited by 2 publications

References 8 publications

Development of the axial skeleton and intervertebral disc

Development of the axial skeleton and intervertebral disc

IVD Development: Nucleus Pulposus Development and Sclerotome Specification

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