| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
37352860 |
| DOI |
10.1016/j.ajhg.2023.06.001 |
| Publication Year |
2023 |
| Title |
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans |
| Journal |
American Journal of Human Genetics |
| ISSN |
0002-9297 |
| eISSN |
1537-6605 |
| URL |
https://doi.org/10.1016/j.ajhg.2023.06.001 |
| Pages |
1068-1085 |
| Issue |
7 |
| Volume |
110 |
| Journal Abbreviation |
Am J Hum Genet |
| Authors |
Guo L, Salian S, Xue J, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang Y, Wei Z, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM |
| First Author |
Guo L |
| Last Author |
Campeau PM |
External Resources
cell.com...Dtrue#https://www.cell.com/ajhg/fulltext/S0002-9297(23)00202-1?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0002929723002021%3Fshowall%3Dtrue# Article fulltext
27077https://www.addgene.org/27077 Addgene identifier (27077, reused)
27078https://www.addgene.org/27078 Addgene identifier (27078, reused)
27080https://www.addgene.org/27080 Addgene identifier (27080, reused)
37624https://www.addgene.org/37624 Addgene identifier (37624, reused)
42230https://www.addgene.org/42230 Addgene identifier (42230, reused)
2/129327http://resolver.sub.uni-goettingen.de/purl?2/129327 GRO.publications identifier
GSE206412https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE206412 NCBI GEO Dataset (GSE206412)
GCF_000001405.26https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000001405.26 NCBI genome (GCF_000001405.26)
NM_153332.4https://www.ncbi.nlm.nih.gov/nuccore/NM_153332.4 NCBI nucleotide (NM_153332.4, reused)
10090https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10090 NCBI taxonomy (human, Homo sapiens)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (mouse, Mus musculus)
608739https://www.omim.org/entry/608739 OMIM identifier (608739, Exoribonuclease 1; ERI1)
0000-0002-9660-6941https://orcid.org/0000-0002-9660-6941 ORCID identifier (Long Guo)
0000-0003-4163-4889https://orcid.org/0000-0003-4163-4889 ORCID identifier (Smrithi Salian)
0000-0003-1434-6953https://orcid.org/0000-0003-1434-6953 ORCID identifier (Jing-Yi Xue)
0000-0002-2342-6843https://orcid.org/0000-0002-2342-6843 ORCID identifier (Nicola Rath)
0000-0002-3554-2673https://orcid.org/0000-0002-3554-2673 ORCID identifier (Justine Rousseau)
0000-0002-8340-5980https://orcid.org/0000-0002-8340-5980 ORCID identifier (Hyunyun Kim)
0000-0002-4171-7222https://orcid.org/0000-0002-4171-7222 ORCID identifier (Sophie Ehresmann)
0000-0002-4463-3067https://orcid.org/0000-0002-4463-3067 ORCID identifier (Shahida Moosa)
0009-0001-2543-1216https://orcid.org/0009-0001-2543-1216 ORCID identifier (Norio Nakagawa)
0000-0002-9602-2321https://orcid.org/0000-0002-9602-2321 ORCID identifier (Jill Clayton-Smith)
0000-0002-8527-2210https://orcid.org/0000-0002-8527-2210 ORCID identifier (Siddharth Banka)
0000-0002-3674-3960https://orcid.org/0000-0002-3674-3960 ORCID identifier (Adam Jackson)
0009-0000-6389-2542https://orcid.org/0009-0000-6389-2542 ORCID identifier (Irina Hüning)
0000-0002-5183-780Xhttps://orcid.org/0000-0002-5183-780X ORCID identifier (Theresa Brunet)
0000-0003-4255-0396https://orcid.org/0000-0003-4255-0396 ORCID identifier (Caleb Bupp)
0000-0001-5322-2983https://orcid.org/0000-0001-5322-2983 ORCID identifier (Noriko Miyake)
0000-0001-9846-6500https://orcid.org/0000-0001-9846-6500 ORCID identifier (Naomichi Matsumoto)
0000-0003-3542-8106https://orcid.org/0000-0003-3542-8106 ORCID identifier (Roberto Mendoza-Londono)
0000-0003-0099-9945https://orcid.org/0000-0003-0099-9945 ORCID identifier (Gregory Costain)
0000-0002-6106-8389https://orcid.org/0000-0002-6106-8389 ORCID identifier (Gabriele Hahn)
0000-0001-9439-4677https://orcid.org/0000-0001-9439-4677 ORCID identifier (Nataliya Di Donato)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198 ORCID identifier (Gökhan Yigit)
0000-0002-5370-7873https://orcid.org/0000-0002-5370-7873 ORCID identifier (Takahiro Yamada)
0000-0003-0557-230Xhttps://orcid.org/0000-0003-0557-230X ORCID identifier (Gen Nishimura)
0000-0003-4840-9879https://orcid.org/0000-0003-4840-9879 ORCID identifier (K Mark Ansel)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0002-7898-2353https://orcid.org/0000-0002-7898-2353 ORCID identifier (Martin Hrabe de Angelis)
0000-0003-0714-2469https://orcid.org/0000-0003-0714-2469 ORCID identifier (Andre Megarbane)
0000-0001-5664-7987https://orcid.org/0000-0001-5664-7987 ORCID identifier (Jill Rosenfeld)
0000-0002-2263-8545https://orcid.org/0000-0002-2263-8545 ORCID identifier (Vigo Heissmeyer)
0000-0003-0316-2147https://orcid.org/0000-0003-0316-2147 ORCID identifier (Shiro Ikegawa)
0000-0001-9713-7107https://orcid.org/0000-0001-9713-7107 ORCID identifier (Philippe M. Campeau)
1/802https://mbexc.uni-goettingen.de/archive/1/802 Research Data Archive (supplemental material)
02pttbw34https://ror.org/02pttbw34 ROR identifier (02pttbw34, Baylor College of Medicine)
05bxjx840https://ror.org/05bxjx840 ROR identifier (05bxjx840, Baylor Genetics)
042aqky30https://ror.org/042aqky30 ROR identifier (042aqky30, Dresden University of Technology)
02tbvhh96https://ror.org/02tbvhh96 ROR identifier (02tbvhh96, First Affiliated Hospital of Xi'an Jiaotong University)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Center for Cardiovascular Research)
04qq88z54https://ror.org/04qq88z54 ROR identifier (04qq88z54, German Center for Diabetes Research)
034a0hk59https://ror.org/034a0hk59 ROR identifier (034a0hk59, Health Innovation Manchester)
000h6jb29https://ror.org/000h6jb29 ROR identifier (000h6jb29, Helmholtz Centre for Environmental Research)
03js3tm40https://ror.org/03js3tm40 ROR identifier (03js3tm40, Institut Jerome Lejeune)
01605g366https://ror.org/01605g366 ROR identifier (01605g366, Kyoto City Hospital)
028vxwa22https://ror.org/028vxwa22 ROR identifier (028vxwa22, Kyoto Prefectural University of Medicine)
00hqkan37https://ror.org/00hqkan37 ROR identifier (00hqkan37, Lebanese American University)
05591te55https://ror.org/05591te55 ROR identifier (05591te55, Ludwig Maximilian University of Munich)
00he80998https://ror.org/00he80998 ROR identifier (00he80998, Manchester University NHS Foundation Trust)
002pd6e78https://ror.org/002pd6e78 ROR identifier (002pd6e78, Massachusetts General Hospital)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
00r9w3j27https://ror.org/00r9w3j27 ROR identifier (00r9w3j27, National Center for Global Health and Medicine)
00wydr975https://ror.org/00wydr975 ROR identifier (00wydr975, Northwest Women’s and Children’s Hospital)
04mb6s476https://ror.org/04mb6s476 ROR identifier (04mb6s476, RIKEN Center for Integrative Medical Sciences)
00smq1v26https://ror.org/00smq1v26 ROR identifier (00smq1v26, Saitama Children's Medical Center)
03aq7kf18https://ror.org/03aq7kf18 ROR identifier (03aq7kf18, Second Affiliated Hospital of Xi’an Jiaotong University)
04wex6338https://ror.org/04wex6338 ROR identifier (04wex6338, Sickkids Research Institute)
05bk57929https://ror.org/05bk57929 ROR identifier (05bk57929, Stellenbosch University)
001x4vz59https://ror.org/001x4vz59 ROR identifier (001x4vz59, St Mary’s Hospital)
02kkvpp62https://ror.org/02kkvpp62 ROR identifier (02kkvpp62, Technical University Munich)
01hs8x754https://ror.org/01hs8x754 ROR identifier (01hs8x754, Tygerberg Hospital)
04za5zm41https://ror.org/04za5zm41 ROR identifier (04za5zm41, University Hospital Carl Gustav Carus)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
043mz5j54https://ror.org/043mz5j54 ROR identifier (043mz5j54, University of California San Francisco)
0161xgx34https://ror.org/0161xgx34 ROR identifier (0161xgx34, University of Montreal)
027m9bs27https://ror.org/027m9bs27 ROR identifier (027m9bs27, University of Manchester)
00t3r8h32https://ror.org/00t3r8h32 ROR identifier (00t3r8h32, University of Lübeck)
03dbr7087https://ror.org/03dbr7087 ROR identifier (03dbr7087, University of Toronto)
04595zj73https://ror.org/04595zj73 ROR identifier (04595zj73, Xi’an Children’s Hospital)
017zhmm22https://ror.org/017zhmm22 ROR identifier (017zhmm22, Xi'an Jiaotong University)
03k95ve17https://ror.org/03k95ve17 ROR identifier (03k95ve17, Yokohama City University Medical Center)
SCR_004423https://scicrunch.org/resolver/SCR_004423 SciCrunch identifier (RRID:SCR_004423, Clontech)
SCR_017980https://scicrunch.org/resolver/SCR_017980 SciCrunch identifier (RRID:SCR_017980, DNBSEQ-G400 Sequencer)
SCR_025651https://scicrunch.org/resolver/SCR_025651 SciCrunch identifier (RRID:SCR_025651, ExpressAnalystR)
SCR_019878https://scicrunch.org/resolver/SCR_019878 SciCrunch identifier (RRID:SCR_019878, Faxitron MX-20 Cabinet X-Ray System)
SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)
SCR_003070https://scicrunch.org/resolver/SCR_003070 SciCrunch identifier (RRID:SCR_003070, ImageJ)
SCR_013517https://scicrunch.org/resolver/SCR_013517 SciCrunch identifier (RRID:SCR_013517, New England Biolabs)
SCR_020318https://scicrunch.org/resolver/SCR_020318 SciCrunch identifier (RRID:SCR_020318, Nikon A1 Confocal Laser Scanning Microscope System)
SCR_017564https://scicrunch.org/resolver/SCR_017564 SciCrunch identifier (RRID:SCR_017564, Olympus)
SCR_006140https://scicrunch.org/resolver/SCR_006140 SciCrunch identifier (RRID:SCR_006140, R and D Systems)
SCR_013642https://scicrunch.org/resolver/SCR_013642 SciCrunch identifier (RRID:SCR_013642, STEMCELL Technologies)
SCR_008452https://scicrunch.org/resolver/SCR_008452 SciCrunch identifier (RRID:SCR_008452, Thermo Fisher Scientific)
SCR_027440https://scicrunch.org/resolver/SCR_027440 SciCrunch identifier (RRID:SCR_027440, Toyobo)
cell.com...c1.pdfhttps://www.cell.com/cms/10.1016/j.ajhg.2023.06.001/attachment/ab59c2e0-48d1-4637-9098-40adb790bed1/mmc1.pdf Supplemental material
cell.com...c2.pdfhttps://www.cell.com/cms/10.1016/j.ajhg.2023.06.001/attachment/fe3f33b0-0a90-48a1-b761-9888d4340304/mmc2.pdf Supplemental material
Q8IV48https://www.uniprot.org/uniprot/Q8IV48 UniProt Proteome identifier (Q8IV48, reused)
mbexc.de...umans/https://mbexc.de/de/null-and-missense-mutations-of-eri1-cause-a-recessive-phenotypic-dichotomy-in-humans/ Website entry (mbexc.de)