De novo mutations in PLXND1 and REV3L cause Möbius syndrome
10.1038/ncomms8199
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2020
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sg-nus-scholar.10635-1804632023-10-31T21:19:02Z De novo mutations in PLXND1 and REV3L cause Möbius syndrome Tomas-Roca, L Tsaalbi-Shtylik, A Jansen, J.G Singh, M.K Epstein, J.A Altunoglu, U Verzijl, H Soria, L Van Beusekom, E Roscioli, T Iqbal, Z Gilissen, C Hoischen, A De Brouwer, A.P.M Erasmus, C Schubert, D Brunner, H Pérez Aytés, A Marin, F Aroca, P Kayserili, H Carta, A De Wind, N Padberg, G.W Van Bokhoven, H DUKE-NUS MEDICAL SCHOOL plexin PLXND1 protein protein REV3L protein semaphorin unclassified drug DNA binding protein DNA directed DNA polymerase nerve cell adhesion molecule PLXND1 protein, human REV3L protein, human DNA etiology mutation neurology rodent amino acid substitution animal cell animal tissue anterior commissure Article brain development cell migration cell proliferation cell survival cerebellum clinical article controlled study corpus callosum corpus striatum dendritic cell DNA damage DNA synthesis embryo enzyme active site exome exon female forebrain frameshift mutation gene mutation heterozygote human hypoplasia in situ hybridization loss of function mutation male meiotic recombination mesencephalon missense mutation Moebius syndrome motoneuron motoneuron nucleus mouse newborn nonhuman nonsense mutation phenotype protein phosphorylation reverse transcription polymerase chain reaction rhombencephalon spinal ganglion animal genetics Moebius syndrome mutant mouse strain mutation Mus Animals Cell Adhesion Molecules, Neuronal DNA Damage DNA-Binding Proteins DNA-Directed DNA Polymerase Exome Heterozygote Humans Mice Mice, Mutant Strains Mobius Syndrome Mutation 10.1038/ncomms8199 Nature Communications 6 7199 2020-10-26T09:05:14Z 2020-10-26T09:05:14Z 2015 Article Tomas-Roca, L, Tsaalbi-Shtylik, A, Jansen, J.G, Singh, M.K, Epstein, J.A, Altunoglu, U, Verzijl, H, Soria, L, Van Beusekom, E, Roscioli, T, Iqbal, Z, Gilissen, C, Hoischen, A, De Brouwer, A.P.M, Erasmus, C, Schubert, D, Brunner, H, Pérez Aytés, A, Marin, F, Aroca, P, Kayserili, H, Carta, A, De Wind, N, Padberg, G.W, Van Bokhoven, H (2015). De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nature Communications 6 : 7199. ScholarBank@NUS Repository. https://doi.org/10.1038/ncomms8199 2041-1723 https://scholarbank.nus.edu.sg/handle/10635/180463 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Nature Publishing Group Unpaywall 20201031 |
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plexin PLXND1 protein protein REV3L protein semaphorin unclassified drug DNA binding protein DNA directed DNA polymerase nerve cell adhesion molecule PLXND1 protein, human REV3L protein, human DNA etiology mutation neurology rodent amino acid substitution animal cell animal tissue anterior commissure Article brain development cell migration cell proliferation cell survival cerebellum clinical article controlled study corpus callosum corpus striatum dendritic cell DNA damage DNA synthesis embryo enzyme active site exome exon female forebrain frameshift mutation gene mutation heterozygote human hypoplasia in situ hybridization loss of function mutation male meiotic recombination mesencephalon missense mutation Moebius syndrome motoneuron motoneuron nucleus mouse newborn nonhuman nonsense mutation phenotype protein phosphorylation reverse transcription polymerase chain reaction rhombencephalon spinal ganglion animal genetics Moebius syndrome mutant mouse strain mutation Mus Animals Cell Adhesion Molecules, Neuronal DNA Damage DNA-Binding Proteins DNA-Directed DNA Polymerase Exome Heterozygote Humans Mice Mice, Mutant Strains Mobius Syndrome Mutation |
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plexin PLXND1 protein protein REV3L protein semaphorin unclassified drug DNA binding protein DNA directed DNA polymerase nerve cell adhesion molecule PLXND1 protein, human REV3L protein, human DNA etiology mutation neurology rodent amino acid substitution animal cell animal tissue anterior commissure Article brain development cell migration cell proliferation cell survival cerebellum clinical article controlled study corpus callosum corpus striatum dendritic cell DNA damage DNA synthesis embryo enzyme active site exome exon female forebrain frameshift mutation gene mutation heterozygote human hypoplasia in situ hybridization loss of function mutation male meiotic recombination mesencephalon missense mutation Moebius syndrome motoneuron motoneuron nucleus mouse newborn nonhuman nonsense mutation phenotype protein phosphorylation reverse transcription polymerase chain reaction rhombencephalon spinal ganglion animal genetics Moebius syndrome mutant mouse strain mutation Mus Animals Cell Adhesion Molecules, Neuronal DNA Damage DNA-Binding Proteins DNA-Directed DNA Polymerase Exome Heterozygote Humans Mice Mice, Mutant Strains Mobius Syndrome Mutation Tomas-Roca, L Tsaalbi-Shtylik, A Jansen, J.G Singh, M.K Epstein, J.A Altunoglu, U Verzijl, H Soria, L Van Beusekom, E Roscioli, T Iqbal, Z Gilissen, C Hoischen, A De Brouwer, A.P.M Erasmus, C Schubert, D Brunner, H Pérez Aytés, A Marin, F Aroca, P Kayserili, H Carta, A De Wind, N Padberg, G.W Van Bokhoven, H De novo mutations in PLXND1 and REV3L cause Möbius syndrome |
| description |
10.1038/ncomms8199 |
| author2 |
DUKE-NUS MEDICAL SCHOOL |
| author_facet |
DUKE-NUS MEDICAL SCHOOL Tomas-Roca, L Tsaalbi-Shtylik, A Jansen, J.G Singh, M.K Epstein, J.A Altunoglu, U Verzijl, H Soria, L Van Beusekom, E Roscioli, T Iqbal, Z Gilissen, C Hoischen, A De Brouwer, A.P.M Erasmus, C Schubert, D Brunner, H Pérez Aytés, A Marin, F Aroca, P Kayserili, H Carta, A De Wind, N Padberg, G.W Van Bokhoven, H |
| format |
Article |
| author |
Tomas-Roca, L Tsaalbi-Shtylik, A Jansen, J.G Singh, M.K Epstein, J.A Altunoglu, U Verzijl, H Soria, L Van Beusekom, E Roscioli, T Iqbal, Z Gilissen, C Hoischen, A De Brouwer, A.P.M Erasmus, C Schubert, D Brunner, H Pérez Aytés, A Marin, F Aroca, P Kayserili, H Carta, A De Wind, N Padberg, G.W Van Bokhoven, H |
| author_sort |
Tomas-Roca, L |
| title |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome |
| title_short |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome |
| title_full |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome |
| title_fullStr |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome |
| title_full_unstemmed |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome |
| title_sort |
de novo mutations in plxnd1 and rev3l cause möbius syndrome |
| publisher |
Nature Publishing Group |
| publishDate |
2020 |
| url |
https://scholarbank.nus.edu.sg/handle/10635/180463 |
| _version_ |
1781792397170049024 |