| Property |
Value |
| Working Groups |
RG Fischer |
| Subproject |
None |
| Open Access |
No |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
41132091 |
| DOI |
10.1093/brain/awaf405 |
| Publication Year |
2025 |
| Title |
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling |
| Journal |
Brain |
| ISSN |
0006-8950 |
| eISSN |
1460-2156 |
| URL |
https://doi.org/10.1093/brain/awaf405 |
| Journal Abbreviation |
Brain |
| Authors |
Ulmke PA, Sakib MS, Nguyen DT, Muchamedin A, Sokpor G, Pham L, Xie Y, Abbas E, Castro Hernandez R, Narayanan R, Wincent J, Liedén A, Harris E, Joss S, Fischer A, Staiger JF, Nguyen HP, Tuoc T |
| First Author |
Ulmke PA |
| Last Author |
Tuoc T |
External Resources
155589https://www.addgene.org/155589 Addgene identifier (155589, reused)
92173https://www.addgene.org/92173 Addgene identifier (92173, reused)
academic...05.pdfhttps://academic.oup.com/brain/article-pdf/149/6/2072/64912397/awaf405.pdf Article fulltext
2/152229http://resolver.sub.uni-goettingen.de/purl?2/152229 GRO.publications identifier
0000-0001-6960-9859https://orcid.org/0000-0001-6960-9859 ORCID identifier (Pauline Antonie Ulmke)
0000-0002-0903-9791https://orcid.org/0000-0002-0903-9791 ORCID identifier (M. Sadman Sakib)
0000-0003-0182-8996https://orcid.org/0000-0003-0182-8996 ORCID identifier (Dang Ton Nguyen)
0000-0002-7120-0793https://orcid.org/0000-0002-7120-0793 ORCID identifier (Godwin Sokpor)
0000-0003-4456-5241https://orcid.org/0000-0003-4456-5241 ORCID identifier (Ramanathan Narayanan)
10090https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10090 NCBI taxonomy (mouse, Mus musculus)
0000-0002-1698-9605https://orcid.org/0000-0002-1698-9605 ORCID identifier (Josephine Wincent)
0000-0002-4887-9726https://orcid.org/0000-0002-4887-9726 ORCID identifier (Shelagh Joss)
0000-0001-8546-1161https://orcid.org/0000-0001-8546-1161 ORCID identifier (André Fischer)
0000-0001-6139-788Xhttps://orcid.org/0000-0001-6139-788X ORCID identifier (Huu Phuc Nguyen)
0000-0003-2079-7259https://orcid.org/0000-0003-2079-7259 ORCID identifier (Tran Tuoc)
1/752https://mbexc.uni-goettingen.de/archive/1/752 Research Data Archive (supplemental material)
027tbp210https://ror.org/027tbp210 ROR identifier (027tbp210, Centre for Life)
03d3v3e93https://ror.org/03d3v3e93 ROR identifier (03d3v3e93, Evotec (Germany))
00m8d6786https://ror.org/00m8d6786 ROR identifier (00m8d6786, Karolinska University Hospital)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
04y0x0x35https://ror.org/04y0x0x35 ROR identifier (04y0x0x35, Queen Elizabeth University Hospital)
04tsk2644https://ror.org/04tsk2644 ROR identifier (04tsk2644, Ruhr University Bochum)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
01y9bpm73https://ror.org/01y9bpm73 ROR identifier (01y9bpm73, University of Göttingen)
02wsd5p50https://ror.org/02wsd5p50 ROR identifier (02wsd5p50, Vietnam Academy of Science and Technology)
SCR_010910https://scicrunch.org/resolver/SCR_010910 SciCrunch identifier (RRID:SCR_010910, BWA)
SCR_001876https://scicrunch.org/resolver/SCR_001876 SciCrunch identifier (RRID:SCR_001876, GATK)
SCR_006525https://scicrunch.org/resolver/SCR_006525 SciCrunch identifier (RRID:SCR_006525, Picard)
SCR_002105https://scicrunch.org/resolver/SCR_002105 SciCrunch identifier (RRID:SCR_002105, Samtools)
SCR_006786https://scicrunch.org/resolver/SCR_006786 SciCrunch identifier (RRID:SCR_006786, WebGestalt)
github.com/imgag/megSAPhttps://github.com/imgag/megSAP Supplemental material (code, reused)
goeseek.gwdguser.de/studies/330https://goeseek.gwdguser.de/studies/330 Supplemental material (goeseek study)
mbexc.de...lling/https://mbexc.de/exosc10-haploinsufficiency-causes-primary-microcephaly-by-derepression-of-sonic-hedgehog-signalling/ Website entry (mbexc.de)