Skeletal Dysplasias Caused by Sulfation Defects
نویسندگان
چکیده
منابع مشابه
Skeletal Dysplasias
This is a good radiological text covering occult traumatic lesions of the cervical, lower thoracic, and lumbar spine, especially for residents in radiology, neurosurgery, neurology, and orthopedics. The book reviews a topic which has not been widely covered in the literature. The major emphasis of this expanded second edition is the cervical spine, comprising seven of its ten chapters. A new ch...
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Finger and palm print patterns (dermatoglyphs) are formed in very early pregnancy, at about the same time the limbs are developing, and their formation probably depends upon the surface contours of the palms and soles during morphogenesis. Dermatoglyphs are useful in skeletal dysplasias for the detection and study of syndactyly and symphalangism, for dating the onset and the dysplasias, for dem...
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Certain skeletal dysplasias represent excellent examples of genetic heterogeneity. Clinical recognition of their individual characteristics is a fundamental prerequisite for an understanding of their pathogenetic mechanisms and for the identification of their basic molecular defects.
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Transient Receptor Potential Vanilloid 4 (TRPV4) is a mechano- and osmosensitive cation channel that is highly expressed in chondrocytes, the cells in cartilage. A large number of mutations in TRPV4 have been linked to skeletal dysplasias, and the goal of this addendum is to shed light on the mechanisms by which mutations in TRPV4 can cause skeletal dysplasias by focusing on 3 recent publicatio...
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Background We had revealed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth by using transgenic and knockout mice: transgenic mice with targeted overexpression of CNP in cartilage develop prominent skeletal overgrowth [1], whereas mice depleted with CNP exhibit impaired endochondral bone growth [2]. We planned to translate this effect of CNP into the ther...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2020
ISSN: 1422-0067
DOI: 10.3390/ijms21082710