| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Preprint |
| Peer Reviewed |
No |
| DOI |
10.1101/2024.08.21.24310320 |
| Publication Year |
2024 |
| Title |
Genomic and biological panoramas of non-muscle actinopathies |
| Journal |
medRxiv |
| eISSN |
3067-2007 |
| URL |
https://doi.org/10.1101/2024.08.21.24310320 |
| Journal Abbreviation |
medRxiv |
| Extra |
Final article published in American Journal of Human Genetics here: doi:10.1016/j.ajhg.2025.12.007 |
| Authors |
Di Donato N, Thom A, Rump A, Greve JN, Kropp M, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Guan K, Hoffjan S, Janzarik WG, Koenig M, Kreimer I, Kuenzel K, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D, Ricca I, Simarro FS, Schrock E, Marquardt A, Taft MH, Tezcan K, Thunström S, Verhagen J, Verloes A, Wollnik B, Krawitz P, Hsieh T, Zeef L, Seifert M, Heide M, Lawrence CB, Roberts N, Manstein D, Woolf AS, Banka S |
| First Author |
Di Donato N |
| Last Author |
Banka S |
External Resources
medrxiv....ll.pdfhttps://www.medrxiv.org/content/10.1101/2024.08.21.24310320v1.full.pdf Article fulltext
ENSG00000184009https://www.ensembl.org/Multi/Search/Results?q=ENSG00000184009 Ensembl identifier (ENSG00000184009)
ENSG00000075624https://www.ensembl.org/Multi/Search/Results?q=ENSG00000075624 Ensembl identifier (ENSG00000075624.9)
2/151193https://publications.goettingen-research-online.de/handle/2/151193 GRO.publications identifier
NM_001101.5https://www.ncbi.nlm.nih.gov/nuccore/NM_001101.5 NCBI nucleotide (NM_001101.5, reused)
NM_001614.5https://www.ncbi.nlm.nih.gov/nuccore/NM_001614.5 NCBI nucleotide (NM_001614.5, reused)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
10090https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10090 NCBI taxonomy (mouse, Mus musculus)
0000-0001-9439-4677https://orcid.org/0000-0001-9439-4677 ORCID identifier (Nataliya Di Donato)
0000-0003-1230-7045https://orcid.org/0000-0003-1230-7045 ORCID identifier (Andrew Thom)
0000-0001-7116-6364https://orcid.org/0000-0001-7116-6364 ORCID identifier (Andreas Rump)
0000-0002-4144-210Xhttps://orcid.org/0000-0002-4144-210X ORCID identifier (Johannes N. Greve)
0000-0002-3079-6236https://orcid.org/0000-0002-3079-6236 ORCID identifier (Marcus Kropp)
0000-0001-7561-7759https://orcid.org/0000-0001-7561-7759 ORCID identifier (Juan Cadiñanos)
0000-0002-5580-7683https://orcid.org/0000-0002-5580-7683 ORCID identifier (Sara Cathey)
0000-0003-0613-8628https://orcid.org/0000-0003-0613-8628 ORCID identifier (Maria Costales)
0000-0002-6750-5615https://orcid.org/0000-0002-6750-5615 ORCID identifier (Sara Cuvertino)
0000-0002-3503-6682https://orcid.org/0000-0002-3503-6682 ORCID identifier (Philine Dinkel)
0000-0002-7684-3982https://orcid.org/0000-0002-7684-3982 ORCID identifier (Livia Garavelli)
0000-0002-0753-3083https://orcid.org/0000-0002-0753-3083 ORCID identifier (Kaomei Guan)
0000-0002-3651-1385https://orcid.org/0000-0002-3651-1385 ORCID identifier (Wibke Gesine Janzarik)
0000-0002-1211-9979https://orcid.org/0000-0002-1211-9979 ORCID identifier (Grazia Maria Simonetta Mancini)
0000-0003-3780-2077https://orcid.org/0000-0003-3780-2077 ORCID identifier (Purificacion Marin-Reina)
0000-0002-7484-0841https://orcid.org/0000-0002-7484-0841 ORCID identifier (Indra Niehaus)
0000-0002-2488-3309https://orcid.org/0000-0002-2488-3309 ORCID identifier (Daniela Pilz)
0000-0001-8939-1447https://orcid.org/0000-0001-8939-1447 ORCID identifier (Ivana Ricca)
0000-0002-1201-9118https://orcid.org/0000-0002-1201-9118 ORCID identifier (Fernando Santos-Simarro)
0000-0002-3377-1704https://orcid.org/0000-0002-3377-1704 ORCID identifier (Evelin Schröck)
0009-0004-2145-0120https://orcid.org/0009-0004-2145-0120 ORCID identifier (Anja Marquardt)
0000-0001-5853-8629https://orcid.org/0000-0001-5853-8629 ORCID identifier (Manuel H. Taft)
0000-0003-4268-1345https://orcid.org/0000-0003-4268-1345 ORCID identifier (Sofia Thunström)
0000-0002-0340-3433https://orcid.org/0000-0002-0340-3433 ORCID identifier (Judith Verhagen)
0000-0003-4819-0264https://orcid.org/0000-0003-4819-0264 ORCID identifier (Alain Verloes)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0002-3194-8625https://orcid.org/0000-0002-3194-8625 ORCID identifier (Peter M. Krawitz)
0000-0003-3828-4419https://orcid.org/0000-0003-3828-4419 ORCID identifier (Tzung-Chien Hsieh)
0000-0003-2833-7847https://orcid.org/0000-0003-2833-7847 ORCID identifier (Leo Zeef)
0000-0003-3518-6813https://orcid.org/0000-0003-3518-6813 ORCID identifier (Neil A. Roberts)
0000-0003-0763-0147https://orcid.org/0000-0003-0763-0147 ORCID identifier (Dietmar Manstein)
0000-0001-5541-1358https://orcid.org/0000-0001-5541-1358 ORCID identifier (Adrian Spencer Woolf)
0000-0002-8527-2210https://orcid.org/0000-0002-8527-2210 ORCID identifier (Siddharth Banka)
1329https://prod.mbexc.uni-goettingen.de/literature/publications/1329 Published Data Registry entry (MBExC, final article)
1/635https://mbexc.uni-goettingen.de/archive/1/635 Research Data Archive (supplemental material)
03kk7td41https://ror.org/03kk7td41 ROR identifier (03kk7td41, Cardiff University)
03v85ar63https://ror.org/03v85ar63 ROR identifier (03v85ar63, Central University Hospital of Asturias)
03njmea73https://ror.org/03njmea73 ROR identifier (03njmea73, Duke Medical Center)
018906e22https://ror.org/018906e22 ROR identifier (018906e22, Erasmus MC)
02w8ez808https://ror.org/02w8ez808 ROR identifier (02w8ez808, Fondazione Stella Maris)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
02f99v835https://ror.org/02f99v835 ROR identifier (02f99v835, German Primate Center)
03p64mj41https://ror.org/03p64mj41 ROR identifier (03p64mj41, Greenwood Genetic Center)
00f2yqf98https://ror.org/00f2yqf98 ROR identifier (00f2yqf98, Hannover Medical School)
01ar2v535https://ror.org/01ar2v535 ROR identifier (01ar2v535, Hospital Universitari i Politècnic La Fe)
01s1q0w69https://ror.org/01s1q0w69 ROR identifier (01s1q0w69, Hospital Universitario La Paz)
02q404g62https://ror.org/02q404g62 ROR identifier (02q404g62, Kaiser Permanente Sacramento Medical Center)
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)
04vgqjj36https://ror.org/04vgqjj36 ROR identifier (04vgqjj36, Sahlgrenska University Hospital)
042aqky30https://ror.org/042aqky30 ROR identifier (042aqky30, TU Dresden)
01xnwqx93https://ror.org/01xnwqx93 ROR identifier (01xnwqx93, University Hospital Bonn)
04fgpet95https://ror.org/04fgpet95 ROR identifier (04fgpet95, University Hospital of Wales)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
0245cg223https://ror.org/0245cg223 ROR identifier (0245cg223, University of Freiburg)
01tm6cn81https://ror.org/01tm6cn81 ROR identifier (01tm6cn81, University of Gothenburg)
02zhqgq86https://ror.org/02zhqgq86 ROR identifier (02zhqgq86, University of Hong Kong)
027m9bs27https://ror.org/027m9bs27 ROR identifier (027m9bs27, University of Manchester)
05ctdxz19https://ror.org/05ctdxz19 ROR identifier (05ctdxz19, University of Messina)
05f82e368https://ror.org/05f82e368 ROR identifier (05f82e368, Université Paris Cité)
IMSR_JAX:029888https://scicrunch.org/resolver/IMSR_JAX:029888 SciCrunch identifier (RRID:IMSR_JAX:029888, B6.129S6(FVB)-Actbtm1.1Erv/J)
IMSR_JAX:004782https://scicrunch.org/resolver/IMSR_JAX:004782 SciCrunch identifier (RRID:IMSR_JAX:004782, STOCK Tg(KRT14-cre)1Amc/J)
SCR_015058https://scicrunch.org/resolver/SCR_015058 SciCrunch identifier (RRID:SCR_015058, bcl2fastq)
SCR_014555https://scicrunch.org/resolver/SCR_014555 SciCrunch identifier (RRID:SCR_014555, cBioPortal)
SCR_006169https://scicrunch.org/resolver/SCR_006169 SciCrunch identifier (RRID:SCR_006169, ClinVar)
SCR_017270https://scicrunch.org/resolver/SCR_017270 SciCrunch identifier (RRID:SCR_017270, ComplexHeatmap)
SCR_015687https://scicrunch.org/resolver/SCR_015687 SciCrunch identifier (RRID:SCR_015687, DESeq2)
SCR_002344https://scicrunch.org/resolver/SCR_002344 SciCrunch identifier (RRID:SCR_002344, Ensembl)
SCR_014583https://scicrunch.org/resolver/SCR_014583 SciCrunch identifier (RRID:SCR_014583, FastQC)
SCR_012919https://scicrunch.org/resolver/SCR_012919 SciCrunch identifier (RRID:SCR_012919, featureCounts)
SCR_014966https://scicrunch.org/resolver/SCR_014966 SciCrunch identifier (RRID:SCR_014966, GENCODE)
SCR_016386https://scicrunch.org/resolver/SCR_016386 SciCrunch identifier (RRID:SCR_016386, Illumina HiSeq 3000/HiSeq 4000 System)
SCR_014983https://scicrunch.org/resolver/SCR_014983 SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)
SCR_003070https://scicrunch.org/resolver/SCR_003070 SciCrunch identifier (RRID:SCR_003070, ImageJ)
SCR_018169https://scicrunch.org/resolver/SCR_018169 SciCrunch identifier (RRID:SCR_018169, Leica SP8 LIGHTNING confocal microscope)
SCR_014212https://scicrunch.org/resolver/SCR_014212 SciCrunch identifier (RRID:SCR_014212, Origin)
SCR_006525https://scicrunch.org/resolver/SCR_006525 SciCrunch identifier (RRID:SCR_006525, Picard)
SCR_005275https://scicrunch.org/resolver/SCR_005275 SciCrunch identifier (RRID:SCR_005275, RSeQC)
SCR_015899https://scicrunch.org/resolver/SCR_015899 SciCrunch identifier (RRID:SCR_015899, STAR)
SCR_011847https://scicrunch.org/resolver/SCR_011847 SciCrunch identifier (RRID:SCR_011847, Trim Galore)
SCR_011848https://scicrunch.org/resolver/SCR_011848 SciCrunch identifier (RRID:SCR_011848, Trimmomatic)
SCR_013672https://scicrunch.org/resolver/SCR_013672 SciCrunch identifier (RRID:SCR_013672, ZEN Digital Imaging for Light Microscopy)
SCR_020925https://scicrunch.org/resolver/SCR_020925 SciCrunch identifier (RRID:SCR_020925, Zeiss LSM 880 with Airyscan Confocal Laser Scanning Microscope)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2024/08/21/2024.08.21.24310320/DC3/embed/media-3.pdf?download=true Supplemental material
goeseek.gwdguser.de/studies/245https://goeseek.gwdguser.de/studies/245 Supplemental material (goeseek study)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2024/08/21/2024.08.21.24310320/DC1/embed/media-1.xlsx?download=true Supplemental material (table)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2024/08/21/2024.08.21.24310320/DC2/embed/media-2.pptx?download=true Supplemental material (video)
mbexc.de...thies/https://mbexc.de/genomic-and-biological-panoramas-of-non-muscle-actinopathies/ Website entry (mbexc.de)
Linked Antibodies
| PID |
AG |
Type |
Antigen symbol |
Antibody Registry ID |
Name |
| primary-0794 |
 |
primary |
TUBB3 |
AB_2313773 |
Purified anti-Tubulin β 3 (TUBB3) Antibody |
| primary-1093 |
 |
primary |
MKI67 |
AB_443209 |
Anti-Ki67 antibody |
| primary-1979 |
|
primary |
g-CYA |
AB_2571583 |
Actin Gamma antibody | 2A3 |
| primary-1980 |
|
primary |
β-CYA |
AB_2571580 |
Actin Beta antibody | 4C2 |
| primary-1981 |
|
primary |
ACTA1 |
AB_2222881 |
pan Actin Antibody (ACTN05 (C4)) |
| primary-1982 |
|
primary |
SOX2 |
AB_355110 |
Human/Mouse/Rat SOX2 Antibody |
| secondary-0250 |
 |
secondary |
|
AB_2535864 |
Donkey anti-Goat IgG (H+L) Cross-Adsorbed Secondary Antibody, Alexa Fluor 647 |
| secondary-0394 |
 |
secondary |
|
AB_141607 |
Donkey anti-Mouse IgG (H+L) Highly Cross-Adsorbed Secondary Antibody, Alexa Fluor 488 |
| secondary-0477 |
 |
secondary |
|
AB_162543 |
Donkey anti-Rabbit IgG (H+L) Highly Cross-Adsorbed Secondary Antibody, Alexa Fluor 555 |
| secondary-0571 |
 |
secondary |
|
AB_2535794 |
Donkey anti-Rat IgG (H+L) Highly Cross-Adsorbed Secondary Antibody, Alexa Fluor 488 |
| secondary-1983 |
|
secondary |
|
AB_2338854 |
Alexa Fluor® 488 AffiniPure® Goat Anti-Mouse IgG, Fcγ subclass 1 specific |
| secondary-1984 |
|
secondary |
|
AB_2338717 |
Cy™5 AffiniPure® Goat Anti-Mouse IgG, Fcγ subclass 2b specific |