| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
41529692 |
| DOI |
10.1016/j.ajhg.2025.12.007 |
| Publication Year |
2026 |
| Title |
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies |
| Journal |
American Journal of Human Genetics |
| ISSN |
0002-9297 |
| eISSN |
1537-6605 |
| URL |
https://doi.org/10.1016/j.ajhg.2025.12.007 |
| Journal Abbreviation |
Am J Hum Genet |
| Authors |
Di Donato N, NMA Consortium, Thom A, Rump A, Greve JN, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, 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, Seifert M, Heide M, Lawrence CB, Roberts NA, Manstein DJ, Woolf AS, Banka S |
| First Author |
Di Donato N |
| Last Author |
Banka S |
External Resources
scienced...in.pdfhttps://www.sciencedirect.com/science/article/pii/S0002929725004781/pdfft?md5=a80c041eada12ffc6166890454cb979b&pid=1-s2.0-S0002929725004781-main.pdf Article fulltext
ENSG00000075624https://www.ensembl.org/Multi/Search/Results?q=ENSG00000075624 Ensembl identifier (ENSG00000075624)
ENSG00000184009https://www.ensembl.org/Multi/Search/Results?q=ENSG00000184009 Ensembl identifier (ENSG00000184009)
2/157858https://publications.goettingen-research-online.de/handle/2/157858 GRO.publications identifier
NM_001101.3https://www.ncbi.nlm.nih.gov/nuccore/NM_001101.3 NCBI nucleotide (NM_001101.3, reused)
NM_001101.5https://www.ncbi.nlm.nih.gov/nuccore/NM_001101.5 NCBI nucleotide (NM_001101.5, reused)
NM_001614.3https://www.ncbi.nlm.nih.gov/nuccore/NM_001614.3 NCBI nucleotide (NM_001614.3, 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)
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)
0000-0001-7561-7759https://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)
0000-0002-3651-1385https://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)
0000-0003-3518-6813https://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)
1120https://prod.mbexc.uni-goettingen.de/literature/publications/1120 Published Data Registry entry (MBExC, preprint)
2btfhttps://www.rcsb.org/structure/2btf RCSB PDB Identifier (DOI:10.2210/pdb2btf/pdb, reused)
1/665https://mbexc.uni-goettingen.de/archive/1/665 Research Data Archive (supplemental material)
03kk7td41https://ror.org/03kk7td41 ROR identifier (03kk7td41, Cardiff University)
00py81415https://ror.org/00py81415 ROR identifier (00py81415, Duke University)
018906e22https://ror.org/018906e22 ROR identifier (018906e22, Erasmus MC)
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)
02dcqy320https://ror.org/02dcqy320 ROR identifier (02dcqy320, Hôpital Robert-Debré)
017bynh47https://ror.org/017bynh47 ROR identifier (017bynh47, Hospital La Paz Institute for Health Research)
01ar2v535https://ror.org/01ar2v535 ROR identifier (01ar2v535, Hospital Universitari i Politècnic La Fe)
03v85ar63https://ror.org/03v85ar63 ROR identifier (03v85ar63, Hospital Universitario Central de Asturias)
02q404g62https://ror.org/02q404g62 ROR identifier (02q404g62, Kaiser Permanente Sacramento Medical Center)
01t0n2c80https://ror.org/01t0n2c80 ROR identifier (01t0n2c80, Klinikum Oldenburg)
04rrkhs81https://ror.org/04rrkhs81 ROR identifier (04rrkhs81, Manchester Academic Health Science Centre)
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)
AB_141607https://scicrunch.org/resolver/AB_141607 SciCrunch identifier (RRID:AB_141607)
AB_162543https://scicrunch.org/resolver/AB_162543 SciCrunch identifier (RRID:AB_162543)
AB_355110https://scicrunch.org/resolver/AB_355110 SciCrunch identifier (RRID:AB_355110)
AB_443209https://scicrunch.org/resolver/AB_443209 SciCrunch identifier (RRID:AB_443209)
AB_2222881https://scicrunch.org/resolver/AB_2222881 SciCrunch identifier (RRID:AB_2222881)
AB_2313773https://scicrunch.org/resolver/AB_2313773 SciCrunch identifier (RRID:AB_2313773)
AB_2338717https://scicrunch.org/resolver/AB_2338717 SciCrunch identifier (RRID:AB_2338717)
AB_2338854https://scicrunch.org/resolver/AB_2338854 SciCrunch identifier (RRID:AB_2338854)
AB_2535794https://scicrunch.org/resolver/AB_2535794 SciCrunch identifier (RRID:AB_2535794)
AB_2535864https://scicrunch.org/resolver/AB_2535864 SciCrunch identifier (RRID:AB_2535864)
AB_2571580https://scicrunch.org/resolver/AB_2571580 SciCrunch identifier (RRID:AB_2571580)
AB_2571583https://scicrunch.org/resolver/AB_2571583 SciCrunch identifier (RRID:AB_2571583)
SCR_015058https://scicrunch.org/resolver/SCR_015058 SciCrunch identifier (RRID:SCR_015058, bcl2fastq)
SCR_014583https://scicrunch.org/resolver/SCR_014583 SciCrunch identifier (RRID:SCR_014583, FastQC)
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_002344https://scicrunch.org/resolver/SCR_002344 SciCrunch identifier (RRID:SCR_002344, Ensembl)
SCR_012919https://scicrunch.org/resolver/SCR_012919 SciCrunch identifier (RRID:SCR_012919, featureCounts)
SCR_014964https://scicrunch.org/resolver/SCR_014964 SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)
SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)
SCR_014983https://scicrunch.org/resolver/SCR_014983 SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)
SCR_006525https://scicrunch.org/resolver/SCR_006525 SciCrunch identifier (RRID:SCR_006525, Picard)
SCR_001905https://scicrunch.org/resolver/SCR_001905 SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)
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)
ars.els-...c1.pdfhttps://ars.els-cdn.com/content/image/1-s2.0-S0002929725004781-mmc1.pdf Supplemental material
goeseek.gwdguser.de/studies/264https://goeseek.gwdguser.de/studies/264 Supplemental material (goeseek study)
ars.els-...2.xlsxhttps://ars.els-cdn.com/content/image/1-s2.0-S0002929725004781-mmc2.xlsx Supplemental material (table)
ars.els-...3.xlsxhttps://ars.els-cdn.com/content/image/1-s2.0-S0002929725004781-mmc3.xlsx Supplemental material (table)
P60709https://www.uniprot.org/uniprot/P60709 UniProt identifier (P60709, reused)
P63261https://www.uniprot.org/uniprot/P63261 UniProt identifier (P63261, reused)
mbexc.de...thies/https://mbexc.de/molecular-genotype-phenotype-correlation-in-actb-and-actg1-related-non-muscle-actinopathies/ Website entry (mbexc.de)