WordNet

something abnormal or anomalous (同)miscreation
of or relating to or forming or attached to a skeleton; "the skeletal system"; "skeletal bones"; "skeletal muscles"

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1. 先天性肺気道（嚢胞性腺腫様）形成異常 congenital pulmonary airway cystic adenomatoid malformation
2. 脊髄に影響を与える疾患 disorders affecting the spinal cord
3. 小児における項部硬直の評価 evaluation of neck stiffness in children
4. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
5. 脳動静脈奇形 brain arteriovenous malformations

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

Marchese M1, Pappalardo A1, Baldacci J1, Verri T2, Doccini S1, Cassandrini D1, Bruno C3, Fiorillo C1, Garcia-Gil M4, Bertini E5, Pitto L6, Santorelli FM7.
Biochemical and biophysical research communications.Biochem Biophys Res Commun.2016 Aug 12;477(1):137-43. doi: 10.1016/j.bbrc.2016.06.033. Epub 2016 Jun 10.
Defective dolichol-phosphate mannose synthase (DPMS) complex is a rare cause of congenital muscular dystrophy associated with hypoglycosylation of alpha-dystroglycan (α-DG) in skeletal muscle. We used the zebrafish (Danio rerio) to model muscle abnormalities due to defects in the subunits of DPMS.
PMID 27291147

Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.

Devotta A1, Juraver-Geslin H1, Gonzalez JA2, Hong CS3, Saint-Jeannet JP4.
Developmental biology.Dev Biol.2016 Jul 15;415(2):371-82. doi: 10.1016/j.ydbio.2016.02.010. Epub 2016 Feb 11.
Mandibulofacial dysostosis (MFD) is a human developmental disorder characterized by defects of the facial bones. It is the second most frequent craniofacial malformation after cleft lip and palate. Nager syndrome combines many features of MFD with a variety of limb defects. Mutations in SF3B4 (splic
PMID 26874011

Unusual association between cardiac, skeletal, urogenital and renal abnormalities.

Goryaeva M1, Sykes MC1, Lau B1, West S1.
BMJ case reports.BMJ Case Rep.2016 Jul 8;2016. pii: bcr2016215281. doi: 10.1136/bcr-2016-215281.
We present a 33-year-old woman with an array of congenital abnormalities. She has been diagnosed with polycystic kidney disease (PCKD) with no detectable mutations in PKD1 or PKD2, spina bifida occulta, thoracic skeletal abnormalities, a uterus didelphys and a patent foramen ovale (PFO). There are s
PMID 27402585

Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressiva

Characterization of the Skeletal Fusion with Sterility (<i>sks</i>) Mouse Showing Axial Skeleton Abnormalities Caused by Defects of Embryonic Skeletal Development