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Genetic association...
Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population
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Wang, H. L. (author)
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Xu, Y. R. (author)
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Chen, M. J. (author)
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Shang, Q. (author)
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Sun, Y. Y. (author)
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Zhu, D. N. (author)
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Wang, Lei (author)
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Huang, Z. H. (author)
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Ma, C. Y. (author)
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Li, T. C. (author)
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He, L. (author)
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Xing, Q. H. (author)
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- Zhu, Changlian, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
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(creator_code:org_t)
- 2013-09-25
- 2013
- English.
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In: Molecular Biology Reports. - : Springer Science and Business Media LLC. - 0301-4851 .- 1573-4978. ; 40:11, s. 6459-6467
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Adaptor protein complex 4 (AP-4) plays a key role in vesicle formation, trafficking, and sorting processes that are critical for brain development and function. AP-4 consists of four subunits encoded by the AP4E1, AP4B1, AP4M1, and AP4S1 genes. A number of studies have pointed to the involvement of AP-4-mediated vesicular trafficking pathways in the etiology of cerebral palsy (CP), the most notable of which are the causative mutations that have recently been identified in each of the AP-4 genes in different CP families. We postulated, therefore, that variations in AP-4 genes might influence an indivual's susceptibility to CP. In the present study, 16 SNPs were genotyped among 517 CP patients and 502 healthy controls from the Han Chinese population. We systematically analyzed the association of the AP4E1, AP4B1, AP4M1, and AP4S1 genes with CP on the basis of clinical characteristics. No significant associations were found between these variants and the overall risk of CP. Subgroup analysis showed that rs1217401 of AP4B1 was significantly associated with CP as a sequela of hypoxic-ischemic encephalopathy (HIE) (CP + HIE) (allele: p = 0.042151; genotype: p = 4.46 x 10(-6)). Our results indicate that the 16 variants studied in the genes of the four subunits of AP-4 have no detectable effects on the overall susceptibility to CP, but AP4B1 appears to be a susceptibility gene for CP + HIE in the Han Chinese population.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- Adaptor protein complex-4 (AP-4)
- Cerebral palsy
- Hypoxic ischemic encephalopathy (HIE)
- SNP
- HYPOXIC-ISCHEMIC ENCEPHALOPATHY
- INTELLECTUAL DISABILITY
- DEFICIENCY
- CAUSES
- NMDA RECEPTOR
- MUTANT MICE
- AP-4
- CLASSIFICATION
- TRAFFICKING
- ASPHYXIA
- SUBUNIT
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Wang, H. L.
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Xu, Y. R.
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Chen, M. J.
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Shang, Q.
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Sun, Y. Y.
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Zhu, D. N.
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show more...
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Wang, Lei
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Huang, Z. H.
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Ma, C. Y.
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Li, T. C.
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He, L.
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Xing, Q. H.
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Zhu, Changlian, ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Molecular Biolog ...
- By the university
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University of Gothenburg