| 1. |
|
|
| 2. |
- Jin, S. C., et al.
(författare)
-
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
- 2020
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:10
-
Tidskriftsartikel (refereegranskat)abstract
- Whole-exome sequencing of 250 parent-offspring trios identifies an enrichment of rare damaging de novo mutations in individuals with cerebral palsy and implicates genetically mediated dysregulation of early neuronal connectivity in the etiology of this disorder. In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eight genes had multiple damaging de novo mutations; of these, two (TUBA1AandCTNNB1) met genome-wide significance. We identified two novel monogenic etiologies,FBXO31andRHOB, and showed that theRHOBmutation enhances active-state Rho effector binding while theFBXO31mutation diminishes cyclin D levels. Candidate cerebral palsy risk genes overlapped with neurodevelopmental disorder genes. Network analyses identified enrichment of Rho GTPase, extracellular matrix, focal adhesion and cytoskeleton pathways. Cerebral palsy risk genes in enriched pathways were shown to regulate neuromotor function in aDrosophilareverse genetics screen. We estimate that 14% of cases could be attributed to an excess of damaging de novo or recessive variants. These findings provide evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Babcock, M. A., et al.
(författare)
-
Injury to the preterm brain and cerebral palsy: clinical aspects, molecular mechanisms, unanswered questions, and future research directions
- 2009
-
Ingår i: J Child Neurol. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 24:9, s. 1064-84
-
Tidskriftsartikel (refereegranskat)abstract
- Cerebral palsy will affect nearly 10% of the 60,000 very low-birth-weight infants born in the United States in the next year, and an even greater percentage will display some form of permanent neurological impairment resulting from injury to the preterm brain. The 2008 Neurobiology of Disease in Children Symposium, held in conjunction with the 37th annual meeting of the Child Neurology Society, aimed to define current knowledge and to develop specific aims for future clinical, translational, and fundamental science. A complex interplay of both destructive and developmental forces is responsible for injury to the preterm brain. Advances in imaging and histology have implicated a variety of cell types, though preoligodendrocyte injury remains the focus. Research into different mechanisms of injury is facilitating new neuroprotective and rehabilitative interventions. A cooperative effort is necessary to translate basic research findings into clinically effective therapies and better care for these children.
|
|
| 6. |
- Brunstrom, B, et al.
(författare)
-
EROD induction by environmental contaminants in avian embryo livers
- 1998
-
Ingår i: COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-PHARMACOLOGY TOXICOLOGY & ENDOCRINOLOGY. - : PERGAMON-ELSEVIER SCIENCE LTD. - 0742-8413. ; 121:1-3, s. 213-219
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The CYP1A (EROD)-inducing potencies of 2,3,7, 8-tetrachlorodibenzo-p-dioxin (TCDD), 3,3',4,4',5-pentachlorobiphenyl (PCB126) and benzo(k)fluoranthene (B(k)F) were studied in avian embryo livers. TCDD and PCB126 proved to be much more potent as inducers in
|
|
| 7. |
|
|
| 8. |
- Carlsson, C, et al.
(författare)
-
7-Ethoxyresorufin O-deethylase induction in cultured gill epithelial cells from rainbow trout
- 1999
-
Ingår i: AQUATIC TOXICOLOGY. - : ELSEVIER SCIENCE BV. - 0166-445X. ; 47:2, s. 117-128
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Induction of the cytochrome P4501A (CYP1A)-mediated enzyme activity 7-ethoxyresorufin O-deethylase (EROD) was measured in cultured respiratory epithelial cells from rainbow trout (Oncorhynchus mykiss) gills. Monolayers of adherent cells were exposed to th
|
|
| 9. |
|
|
| 10. |
|
|
