Search: WFRF:(Harper C.) > (2020-2024) > Mutations disruptin...
Fältnamn | Indikatorer | Metadata |
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000 | 06145naa a2201393 4500 | |
001 | oai:gup.ub.gu.se/297233 | |
003 | SwePub | |
008 | 240528s2020 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:144790969 | |
024 | 7 | a https://gup.ub.gu.se/publication/2972332 URI |
024 | 7 | a https://doi.org/10.1038/s41588-020-0695-12 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1447909692 URI |
040 | a (SwePub)gud (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Jin, S. C.4 aut |
245 | 1 0 | a Mutations disrupting neuritogenesis genes confer risk for cerebral palsy |
264 | c 2020-09-28 | |
264 | 1 | b Springer Science and Business Media LLC,c 2020 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
653 | a congenital heart-disease | |
653 | a copy-number variations | |
653 | a de-novo | |
653 | a intellectual | |
653 | a disability | |
653 | a truncating mutations | |
653 | a alk kinase | |
653 | a protein | |
653 | a brain | |
653 | a rare | |
653 | a phosphorylation | |
653 | a Genetics & Heredity | |
700 | 1 | a Lewis, S. A.4 aut |
700 | 1 | a Bakhtiari, S.4 aut |
700 | 1 | a Zeng, X.4 aut |
700 | 1 | a Sierant, M. C.4 aut |
700 | 1 | a Shetty, S.4 aut |
700 | 1 | a Nordlie, S. M.4 aut |
700 | 1 | a Elie, A.4 aut |
700 | 1 | a Corbett, M. A.4 aut |
700 | 1 | a Norton, B. Y.4 aut |
700 | 1 | a van Eyk, C. L.4 aut |
700 | 1 | a Haider, S.4 aut |
700 | 1 | a Guida, B. S.4 aut |
700 | 1 | a Magee, H.4 aut |
700 | 1 | a Liu, J. M.4 aut |
700 | 1 | a Pastore, S.4 aut |
700 | 1 | a Vincent, J. B.4 aut |
700 | 1 | a Brunstrom-Hernandez, J.4 aut |
700 | 1 | a Papavasileiou, A.4 aut |
700 | 1 | a Fahey, M. C.4 aut |
700 | 1 | a Berry, J. G.4 aut |
700 | 1 | a Harper, K.4 aut |
700 | 1 | a Zhou, C. C.u Karolinska Institutet4 aut |
700 | 1 | a Zhang, J. H.4 aut |
700 | 1 | a Li, B. Y.4 aut |
700 | 1 | a Heim, J.4 aut |
700 | 1 | a Webber, D. L.4 aut |
700 | 1 | a Frank, M. S. B.4 aut |
700 | 1 | a Xia, L.4 aut |
700 | 1 | a Xu, Y. R.4 aut |
700 | 1 | a Zhu, D. N.4 aut |
700 | 1 | a Zhang, B. H.4 aut |
700 | 1 | a Sheth, A. H.4 aut |
700 | 1 | a Knight, J. R.4 aut |
700 | 1 | a Castaldi, C.4 aut |
700 | 1 | a Tikhonova, I. R.4 aut |
700 | 1 | a Lopez-Giraldez, F.4 aut |
700 | 1 | a Keren, B.4 aut |
700 | 1 | a Whalen, S.4 aut |
700 | 1 | a Buratti, J.4 aut |
700 | 1 | a Doummar, D.4 aut |
700 | 1 | a Cho, M. G.4 aut |
700 | 1 | a Retterer, K.4 aut |
700 | 1 | a Millan, F.4 aut |
700 | 1 | a Wang, Y. G.4 aut |
700 | 1 | a Waugh, J. L.4 aut |
700 | 1 | a Rodan, L.4 aut |
700 | 1 | a Cohen, J. S.4 aut |
700 | 1 | a Fatemi, A.4 aut |
700 | 1 | a LinE,, LinE,4 aut |
700 | 1 | a Phillips, J. P.4 aut |
700 | 1 | a Feyma, T.4 aut |
700 | 1 | a MacLennan, S. C.4 aut |
700 | 1 | a Vaughan, S.4 aut |
700 | 1 | a Crompton, K. E.4 aut |
700 | 1 | a Reid, S. M.4 aut |
700 | 1 | a Reddihough, D. S.4 aut |
700 | 1 | a Shang, Q.4 aut |
700 | 1 | a Gao, C.4 aut |
700 | 1 | a Novak, I.4 aut |
700 | 1 | a Badawi, N.4 aut |
700 | 1 | a Wilson, Y. A.4 aut |
700 | 1 | a McIntyre, S. J.4 aut |
700 | 1 | a Mane, S. M.4 aut |
700 | 1 | a Wang, Xiaoyang,d 1965u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology4 aut0 (Swepub:gu)xwanxi |
700 | 1 | a Amor, D. J.4 aut |
700 | 1 | a Zarnescu, D. C.4 aut |
700 | 1 | a Lu, Q. S.4 aut |
700 | 1 | a Xing, Q. H.4 aut |
700 | 1 | a Zhu, C. L.4 aut |
700 | 1 | a Bilguvar, K.4 aut |
700 | 1 | a Padilla-Lopez, S.4 aut |
700 | 1 | a Lifton, R. P.4 aut |
700 | 1 | a Gecz, J.4 aut |
700 | 1 | a MacLennan, A. H.4 aut |
700 | 1 | a Kruer, M. C.4 aut |
710 | 2 | a Karolinska Institutetb Institutionen för neurovetenskap och fysiologi4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 52:10q 52:10x 1061-4036x 1546-1718 |
856 | 4 | u https://discovery.ucl.ac.uk/10111345/3/Shozeb_CP%20Genomics%20RESUBMISSION_FINAL.pdf |
856 | 4 8 | u https://gup.ub.gu.se/publication/297233 |
856 | 4 8 | u https://doi.org/10.1038/s41588-020-0695-1 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:144790969 |
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