ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities
Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental pathways. ZNF423 has been implicated in rare...
Saved in:
Published in | PLoS genetics Vol. 16; no. 9; p. e1009017 |
---|---|
Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Public Library of Science
14.09.2020
Public Library of Science (PLoS) |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental pathways. ZNF423 has been implicated in rare neurodevelopmental disorders, consistent with midline brain defects in Zfp423-mutant mice, but pathogenic potential of most patient variants remains uncertain. We engineered ~50 patient-derived and small deletion variants into the highly-conserved mouse ortholog and examined neuroanatomical measures for 791 littermate pairs. Three substitutions previously asserted pathogenic appeared benign, while a fourth was effectively null. Heterozygous premature termination codon (PTC) variants showed mild haploabnormality, consistent with loss-of-function intolerance inferred from human population data. In-frame deletions of specific zinc fingers showed mild to moderate abnormalities, as did low-expression variants. These results affirm the need for functional validation of rare variants in biological context and demonstrate cost-effective modeling of neuroanatomical abnormalities in mice. |
---|---|
AbstractList | Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental pathways. ZNF423 has been implicated in rare neurodevelopmental disorders, consistent with midline brain defects in Zfp423-mutant mice, but pathogenic potential of most patient variants remains uncertain. We engineered ~50 patient-derived and small deletion variants into the highly-conserved mouse ortholog and examined neuroanatomical measures for 791 littermate pairs. Three substitutions previously asserted pathogenic appeared benign, while a fourth was effectively null. Heterozygous premature termination codon (PTC) variants showed mild haploabnormality, consistent with loss-of-function intolerance inferred from human population data. In-frame deletions of specific zinc fingers showed mild to moderate abnormalities, as did low-expression variants. These results affirm the need for functional validation of rare variants in biological context and demonstrate cost-effective modeling of neuroanatomical abnormalities in mice. Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental pathways. ZNF423 has been implicated in rare neurodevelopmental disorders, consistent with midline brain defects in Zfp423 -mutant mice, but pathogenic potential of most patient variants remains uncertain. We engineered ~50 patient-derived and small deletion variants into the highly-conserved mouse ortholog and examined neuroanatomical measures for 791 littermate pairs. Three substitutions previously asserted pathogenic appeared benign, while a fourth was effectively null. Heterozygous premature termination codon (PTC) variants showed mild haploabnormality, consistent with loss-of-function intolerance inferred from human population data. In-frame deletions of specific zinc fingers showed mild to moderate abnormalities, as did low-expression variants. These results affirm the need for functional validation of rare variants in biological context and demonstrate cost-effective modeling of neuroanatomical abnormalities in mice. Gene identification in rare disorders is typically supported by finding different mutations of the same gene in multiple families with the same disorder. However, causal evidence for any specific mutation found in one or a few related individuals is weaker, especially if the disorder can be caused by any of several genes and the functional effect of the mutation is not certain. Experimental models can be helpful in testing causal effects, but only to the extent that the model is validated to recapitulate one or more aspects of the disorder. We used CRISPR/Cas9-based genome engineering to create a wide range of mutations in mouse Zfp423 , whose human cognate is implicated in neurodevelopmental disorders, especially cerebellar vermis hypoplasia and Joubert syndrome. This large collection of animal models shows that both reduced Zfp423 expression, including heterozygosity for loss-of-function mutations, and normally-expressed domain deletions, including specific zinc finger domains, produce measureable abnormalities in midline development. Despite this high level of validation, most patient-derived amino acid substitution variants tested did not produce measureable effects. The single exception is a substitution, H1277Y, that destroys a structural element in the last zinc finger domain and results in dramatic loss of steady-state Zfp423 protein level. |
Audience | Academic |
Author | Hamilton, Bruce A Lara, Raquel Z Deshpande, Ojas Zhang, Oliver R Concepcion, Dorothy |
AuthorAffiliation | 1 Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, La Jolla, CA, United States of America Cincinnati Childrens Hospital Medical Center, UNITED STATES 2 Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America |
AuthorAffiliation_xml | – name: Cincinnati Childrens Hospital Medical Center, UNITED STATES – name: 1 Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, La Jolla, CA, United States of America – name: 2 Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America |
Author_xml | – sequence: 1 givenname: Ojas orcidid: 0000-0002-6029-2370 surname: Deshpande fullname: Deshpande, Ojas organization: Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America – sequence: 2 givenname: Raquel Z orcidid: 0000-0003-3769-9313 surname: Lara fullname: Lara, Raquel Z organization: Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America – sequence: 3 givenname: Oliver R orcidid: 0000-0001-9710-9843 surname: Zhang fullname: Zhang, Oliver R organization: Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America – sequence: 4 givenname: Dorothy surname: Concepcion fullname: Concepcion, Dorothy organization: Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America – sequence: 5 givenname: Bruce A orcidid: 0000-0001-5599-9139 surname: Hamilton fullname: Hamilton, Bruce A organization: Department of Medicine, Institute for Genomic Medicine, Rebecca and John Moores UCSD Cancer Center, University of California, San Diego School of Medicine, Gilman Drive, La Jolla, CA, United States of America |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32925911$$D View this record in MEDLINE/PubMed |
BookMark | eNqVk01vEzEQhleoiH7AP0CwEhICiQR_bZy9IFUVhUhVK_F14GLNeseJK8cO9m4Fd3443iStEtQDaA-7-_qZd8Zjz3Fx4IPHonhKyZhySd9ehz56cOPVHP2YElITKh8UR7Sq-EgKIg52vg-L45SuCeHVtJaPikPOalbVlB4Vv79fngvGyxV0Fn1X3kC04Lv0puxi73VWg88_4NvS-pGJsMSyRYdrPUvl0upBMdZjpkpwLq-OWlyhbwfDCH6OZTAZbN0ANRFyGDQ-xCU4m9Omx8VDAy7hk-37pPh6_v7L2cfRxdWH2dnpxUhLNulGgk-MZppJpLyRtUEmOLYUtOSE4rRtauSUNAi0AWlqVjcVYZIDqQznjWH8pHi-8V25kNS2gUkxUdFKSE5pJmYbog1wrVbRLiH-UgGsWgshzhXEzmqHqqa1RpANCi4EnciaNACC1wS5MLrh2evdNlvfLLHVuRsR3J7p_oq3CzUPN0rmchgZinm1NYjhR4-pU0ubNDoHHkM_1C3YVAjOB_TFX-j9u9tSc8gbsN6EnFcPpup0wqeEiAmbZmp8D5WfFvNh50tobNb3Al7vBWSmw5_dHPqU1Ozzp_9gL_-dvfq2z77cYRcIrluk4Pr1Pd0HxQbUMaQU0dwdCCVqGKzbzqlhsNR2sHLYs93DvAu6nST-B6J_Ht0 |
CitedBy_id | crossref_primary_10_1615_CritRevEukaryotGeneExpr_2022044272 crossref_primary_10_1242_dev_190173 crossref_primary_10_1002_btm2_10505 crossref_primary_10_1093_genetics_iyab084 crossref_primary_10_3389_fnins_2021_760567 crossref_primary_10_2478_ebtj_2022_0008 |
Cites_doi | 10.1093/nar/gks539 10.1128/MCB.02255-05 10.1038/nature19057 10.1038/ncomms10753 10.1371/journal.pgen.1006357 10.1038/nature08816 10.1074/jbc.M110.142869 10.1007/978-3-319-24277-4 10.1371/journal.pone.0046688 10.1016/j.ccr.2009.02.023 10.1128/MCB.18.11.6447 10.1006/hbeh.1997.1382 10.1016/S0166-4328(03)00109-8 10.1016/j.ydbio.2007.04.005 10.1016/j.molcel.2019.05.008 10.1038/nmeth.1492 10.1038/nprot.2015.105 10.1038/gim.2016.90 10.3758/BRM.41.4.1149 10.1016/j.cell.2012.06.028 10.1038/ng.3700 10.1093/nar/gkz319 10.1038/nmeth.3027 10.1093/nar/gkx1153 10.1074/jbc.M510004200 10.1038/nmeth0410-248 10.1016/j.ydbio.2017.12.020 10.1093/nar/gky1016 10.1016/j.molmet.2016.11.009 10.1242/dev.155077 10.1016/j.neuron.2007.04.029 10.1093/nar/gkr407 10.1523/JNEUROSCI.17-11-04159.1997 10.1073/pnas.0609184103 10.1371/journal.pone.0066514 10.1126/science.aai8792 10.1126/science.8209258 10.1093/nar/gkw398 10.1038/329219a0 10.1186/s13059-016-1012-2 10.1002/humu.23645 10.1016/S0092-8674(00)81561-5 10.1016/j.cmet.2012.01.010 10.1038/gim.2015.161 10.1038/ng.3664 10.1016/j.neuron.2015.09.048 10.1016/j.cels.2017.11.003 10.3343/alm.2019.39.5.421 10.1186/1471-2164-14-S3-S3 10.1038/nmeth.2890 |
ContentType | Journal Article |
Copyright | COPYRIGHT 2020 Public Library of Science 2020 Deshpande et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. 2020 Deshpande et al 2020 Deshpande et al |
Copyright_xml | – notice: COPYRIGHT 2020 Public Library of Science – notice: 2020 Deshpande et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. – notice: 2020 Deshpande et al 2020 Deshpande et al |
DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION IOV ISN ISR 3V. 7QP 7QR 7SS 7TK 7TM 7TO 7X7 7XB 88E 8FD 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ H94 HCIFZ K9. LK8 M0S M1P M7P P64 PIMPY PQEST PQQKQ PQUKI PRINS RC3 7X8 5PM DOA |
DOI | 10.1371/journal.pgen.1009017 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Gale_Opposing Viewpoints In Context Gale In Context: Canada Gale in Context: Science ProQuest Central (Corporate) Calcium & Calcified Tissue Abstracts Chemoreception Abstracts Entomology Abstracts (Full archive) Neurosciences Abstracts Nucleic Acids Abstracts Oncogenes and Growth Factors Abstracts ProQuest_Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Technology Research Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central ProQuest Central Essentials Biological Science Collection ProQuest Central Natural Science Collection ProQuest One Community College ProQuest Central Korea Engineering Research Database Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student AIDS and Cancer Research Abstracts SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) Biological Sciences Health & Medical Collection (Alumni Edition) PML(ProQuest Medical Library) Biological Science Database Biotechnology and BioEngineering Abstracts Publicly Available Content Database ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles) DOAJ Directory of Open Access Journals |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Publicly Available Content Database ProQuest Central Student Oncogenes and Growth Factors Abstracts Technology Research Database ProQuest Central Essentials Nucleic Acids Abstracts ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest Natural Science Collection ProQuest Central China ProQuest Central Genetics Abstracts Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Biological Science Collection AIDS and Cancer Research Abstracts Chemoreception Abstracts ProQuest Medical Library (Alumni) ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection Neurosciences Abstracts ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts Entomology Abstracts ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition Engineering Research Database ProQuest One Academic Calcium & Calcified Tissue Abstracts ProQuest Central (Alumni) MEDLINE - Academic |
DatabaseTitleList | MEDLINE MEDLINE - Academic Publicly Available Content Database |
Database_xml | – sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 3 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 4 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Biology Medicine |
DocumentTitleAlternate | ZNF423 patient variants, truncations, and deletions in mice |
EISSN | 1553-7404 |
Editor | Stottmann, Rolf W. |
Editor_xml | – sequence: 1 givenname: Rolf W. surname: Stottmann fullname: Stottmann, Rolf W. |
EndPage | e1009017 |
ExternalDocumentID | 2451547311 oai_doaj_org_article_919cea7be434416790baa4390e34fcb3 A638004628 10_1371_journal_pgen_1009017 32925911 |
Genre | Journal Article Research Support, N.I.H., Extramural |
GeographicLocations | United States La Jolla California United States--US |
GeographicLocations_xml | – name: United States – name: La Jolla California – name: United States--US |
GrantInformation_xml | – fundername: NINDS NIH HHS grantid: R01 NS097534 – fundername: NIGMS NIH HHS grantid: R25 GM083275 – fundername: ; grantid: R01 NS097534 |
GroupedDBID | --- 123 29O 2WC 3V. 53G 5VS 7X7 88E 8FE 8FH 8FI 8FJ AAFWJ ABDBF ABUWG ACGFO ACIHN ACIWK ACPRK ADBBV ADRAZ AEAQA AENEX AFKRA AFPKN AHMBA ALIPV ALMA_UNASSIGNED_HOLDINGS AOIJS B0M BAWUL BBNVY BCNDV BENPR BHPHI BPHCQ BVXVI BWKFM C1A CCPQU CGR CS3 CUY CVF DIK DU5 E3Z EAP EAS EBD EBS ECM EIF EJD EMK EMOBN ESX F5P FPL FYUFA GROUPED_DOAJ GX1 H13 HCIFZ HMCUK HYE IAO IGS IHR IHW INH INR IOV IPNFZ ISN ISR ITC KQ8 LK8 M1P M48 M7P M~E NPM O5R O5S OK1 P2P PIMPY PQQKQ PROAC PSQYO PV9 QF4 QN7 RIG RNS RPM RZL SV3 TR2 TUS UKHRP WOQ WOW XSB ~8M AAYXX CITATION 7QP 7QR 7SS 7TK 7TM 7TO 7XB 8FD 8FK AZQEC DWQXO FR3 GNUQQ H94 K9. P64 PQEST PQUKI PRINS RC3 7X8 5PM - AAPBV ABPTK ADACO BBAFP |
ID | FETCH-LOGICAL-c726t-436fc2c27e13b79fe243ed1ac7301e8db9e310bea1ba7f929b50273a05f33bf23 |
IEDL.DBID | RPM |
ISSN | 1553-7404 1553-7390 |
IngestDate | Fri Nov 26 17:12:08 EST 2021 Tue Oct 22 15:15:20 EDT 2024 Tue Sep 17 20:54:27 EDT 2024 Fri Jun 28 20:07:17 EDT 2024 Thu Oct 10 17:43:18 EDT 2024 Thu Feb 22 23:35:05 EST 2024 Fri Feb 02 04:25:34 EST 2024 Thu Aug 01 19:30:50 EDT 2024 Thu Aug 01 20:10:52 EDT 2024 Thu Aug 01 20:20:40 EDT 2024 Tue Aug 20 22:12:48 EDT 2024 Fri Aug 23 00:48:23 EDT 2024 Wed Oct 23 09:23:34 EDT 2024 |
IsDoiOpenAccess | true |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 9 |
Language | English |
License | This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Creative Commons Attribution License |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c726t-436fc2c27e13b79fe243ed1ac7301e8db9e310bea1ba7f929b50273a05f33bf23 |
Notes | new_version ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 The authors have declared that no competing interests exist. Current address: Rocky Vista University College of Osteopathic Medicine, Parker, CO, United States of America |
ORCID | 0000-0003-3769-9313 0000-0002-6029-2370 0000-0001-5599-9139 0000-0001-9710-9843 |
OpenAccessLink | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515201/ |
PMID | 32925911 |
PQID | 2451547311 |
PQPubID | 1436339 |
ParticipantIDs | plos_journals_2451547311 doaj_primary_oai_doaj_org_article_919cea7be434416790baa4390e34fcb3 pubmedcentral_primary_oai_pubmedcentral_nih_gov_7515201 proquest_miscellaneous_2442844331 proquest_journals_2451547311 gale_infotracmisc_A638004628 gale_infotracacademiconefile_A638004628 gale_incontextgauss_ISR_A638004628 gale_incontextgauss_ISN_A638004628 gale_incontextgauss_IOV_A638004628 gale_healthsolutions_A638004628 crossref_primary_10_1371_journal_pgen_1009017 pubmed_primary_32925911 |
PublicationCentury | 2000 |
PublicationDate | 20200914 |
PublicationDateYYYYMMDD | 2020-09-14 |
PublicationDate_xml | – month: 9 year: 2020 text: 20200914 day: 14 |
PublicationDecade | 2020 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States – name: San Francisco – name: San Francisco, CA USA |
PublicationTitle | PLoS genetics |
PublicationTitleAlternate | PLoS Genet |
PublicationYear | 2020 |
Publisher | Public Library of Science Public Library of Science (PLoS) |
Publisher_xml | – name: Public Library of Science – name: Public Library of Science (PLoS) |
References | A Hata (pgen.1009017.ref021) 2000; 100 JM Schwarz (pgen.1009017.ref045) 2014; 11 CJ Hong (pgen.1009017.ref020) 2016; 12 TA Hoek (pgen.1009017.ref037) 2019; 75 E Karaca (pgen.1009017.ref008) 2015; 88 NL Sim (pgen.1009017.ref043) 2012; 40 RG Lindeboom (pgen.1009017.ref036) 2016; 48 YE Kim (pgen.1009017.ref001) 2019; 39 G Masserdotti (pgen.1009017.ref024) 2010; 285 M Haeussler (pgen.1009017.ref040) 2016; 17 S Warming (pgen.1009017.ref012) 2006; 26 RY Tsai (pgen.1009017.ref026) 1997; 17 M Lek (pgen.1009017.ref003) 2016; 536 VE Gray (pgen.1009017.ref050) 2018; 6 S Freitag (pgen.1009017.ref055) 2003; 145 LE Cheng (pgen.1009017.ref011) 2007; 307 C Bycroft (pgen.1009017.ref005) 2017 YW Cho (pgen.1009017.ref038) 2013; 8 H Carter (pgen.1009017.ref047) 2013; 14 H Yang (pgen.1009017.ref049) 2015; 10 R Core Team (pgen.1009017.ref057) 2017 IA Adzhubei (pgen.1009017.ref042) 2010; 7 RY Tsai (pgen.1009017.ref039) 1998; 18 Y Choi (pgen.1009017.ref044) 2012; 7 WA Alcaraz (pgen.1009017.ref010) 2006; 103 KJ Karczewski (pgen.1009017.ref004) 2019 M Shao (pgen.1009017.ref018) 2017; 6 JN Crawley (pgen.1009017.ref052) 1997; 31 M Chaki (pgen.1009017.ref007) 2012; 150 MJ Landrum (pgen.1009017.ref031) 2018; 46 E Signaroldi (pgen.1009017.ref025) 2016; 7 DM Fowler (pgen.1009017.ref028) 2010; 7 RK Gupta (pgen.1009017.ref016) 2010; 464 P Rentzsch (pgen.1009017.ref048) 2019; 47 I Herskowitz (pgen.1009017.ref034) 1987; 329 RJ Carter (pgen.1009017.ref051) 2001 MV Plikus (pgen.1009017.ref019) 2017; 355 AR Majithia (pgen.1009017.ref030) 2016; 48 F Casoni (pgen.1009017.ref013) 2020 S Huang (pgen.1009017.ref022) 2009; 15 R Walsh (pgen.1009017.ref006) 2017; 19 JN Crawley (pgen.1009017.ref054) 1999; 835 F Faul (pgen.1009017.ref056) 2009; 41 RK Gupta (pgen.1009017.ref017) 2012; 15 WA Alcaraz (pgen.1009017.ref033) K Labun (pgen.1009017.ref041) 2016; 44 ME Gurney (pgen.1009017.ref053) 1994; 264 L Massimino (pgen.1009017.ref015) 2018; 434 EA Rivera-Munoz (pgen.1009017.ref002) 2018; 39 BA Hamilton (pgen.1009017.ref009) 2020 B Reva (pgen.1009017.ref046) 2011; 39 LE Cheng (pgen.1009017.ref014) 2007; 54 M Ku (pgen.1009017.ref023) 2006; 281 S Cohen (pgen.1009017.ref035) 2019; 47 H Wickham (pgen.1009017.ref058) 2016 F Casoni (pgen.1009017.ref027) 2017; 144 JX Chong (pgen.1009017.ref032) 2016; 18 DM Fowler (pgen.1009017.ref029) 2014; 11 |
References_xml | – volume: 40 start-page: W452 year: 2012 ident: pgen.1009017.ref043 article-title: SIFT web server: predicting effects of amino acid substitutions on proteins publication-title: Nucleic Acids Res doi: 10.1093/nar/gks539 contributor: fullname: NL Sim – volume: 26 start-page: 6913 issue: 18 year: 2006 ident: pgen.1009017.ref012 article-title: Zfp423 is required for normal cerebellar development publication-title: Mol Cell Biol doi: 10.1128/MCB.02255-05 contributor: fullname: S Warming – ident: pgen.1009017.ref033 article-title: Strain-dependent modifier genes determine survival in Zfp423 mice publication-title: bioRxiv contributor: fullname: WA Alcaraz – volume: 536 start-page: 285 issue: 7616 year: 2016 ident: pgen.1009017.ref003 article-title: Analysis of protein-coding genetic variation in 60,706 humans publication-title: Nature doi: 10.1038/nature19057 contributor: fullname: M Lek – volume: 7 start-page: 10753 year: 2016 ident: pgen.1009017.ref025 article-title: Polycomb dysregulation in gliomagenesis targets a Zfp423-dependent differentiation network publication-title: Nat Commun doi: 10.1038/ncomms10753 contributor: fullname: E Signaroldi – volume: 12 start-page: e1006357 issue: 10 year: 2016 ident: pgen.1009017.ref020 article-title: Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function publication-title: PLoS Genet doi: 10.1371/journal.pgen.1006357 contributor: fullname: CJ Hong – volume: 464 start-page: 619 issue: 7288 year: 2010 ident: pgen.1009017.ref016 article-title: Transcriptional control of preadipocyte determination by Zfp423 publication-title: Nature doi: 10.1038/nature08816 contributor: fullname: RK Gupta – volume: 285 start-page: 30814 issue: 40 year: 2010 ident: pgen.1009017.ref024 article-title: ZFP423 coordinates Notch and bone morphogenetic protein signaling, selectively up-regulating Hes5 gene expression publication-title: J Biol Chem doi: 10.1074/jbc.M110.142869 contributor: fullname: G Masserdotti – volume-title: ggplot2: Elegant Graphics for Data Analysis year: 2016 ident: pgen.1009017.ref058 doi: 10.1007/978-3-319-24277-4 contributor: fullname: H Wickham – volume: 7 start-page: e46688 issue: 10 year: 2012 ident: pgen.1009017.ref044 article-title: Predicting the functional effect of amino acid substitutions and indels publication-title: PLoS One doi: 10.1371/journal.pone.0046688 contributor: fullname: Y Choi – volume: 15 start-page: 328 issue: 4 year: 2009 ident: pgen.1009017.ref022 article-title: ZNF423 is critically required for retinoic acid-induced differentiation and is a marker of neuroblastoma outcome publication-title: Cancer Cell doi: 10.1016/j.ccr.2009.02.023 contributor: fullname: S Huang – volume: 18 start-page: 6447 issue: 11 year: 1998 ident: pgen.1009017.ref039 article-title: Identification of DNA recognition sequences and protein interaction domains of the multiple-Zn-finger protein Roaz publication-title: Mol Cell Biol doi: 10.1128/MCB.18.11.6447 contributor: fullname: RY Tsai – volume: 31 start-page: 197 issue: 3 year: 1997 ident: pgen.1009017.ref052 article-title: A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice publication-title: Horm Behav doi: 10.1006/hbeh.1997.1382 contributor: fullname: JN Crawley – volume: 145 start-page: 189 issue: 1–2 year: 2003 ident: pgen.1009017.ref055 article-title: Behavioral alterations in mice deficient for the extracellular matrix glycoprotein tenascin-R publication-title: Behav Brain Res doi: 10.1016/S0166-4328(03)00109-8 contributor: fullname: S Freitag – volume-title: R: A language and environment for statistical computing year: 2017 ident: pgen.1009017.ref057 contributor: fullname: R Core Team – volume: 307 start-page: 43 issue: 1 year: 2007 ident: pgen.1009017.ref011 article-title: The transcription factor Zfp423/OAZ is required for cerebellar development and CNS midline patterning publication-title: Dev Biol doi: 10.1016/j.ydbio.2007.04.005 contributor: fullname: LE Cheng – volume: 75 start-page: 324 issue: 2 year: 2019 ident: pgen.1009017.ref037 article-title: Single-Molecule Imaging Uncovers Rules Governing Nonsense-Mediated mRNA Decay publication-title: Mol Cell doi: 10.1016/j.molcel.2019.05.008 contributor: fullname: TA Hoek – volume: 835 start-page: 18 issue: 1 year: 1999 ident: pgen.1009017.ref054 article-title: Behavioral phenotyping of transgenic and knockout mice: experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests publication-title: Brain Res contributor: fullname: JN Crawley – volume: 7 start-page: 741 issue: 9 year: 2010 ident: pgen.1009017.ref028 article-title: High-resolution mapping of protein sequence-function relationships publication-title: Nat Methods doi: 10.1038/nmeth.1492 contributor: fullname: DM Fowler – volume: 10 start-page: 1556 issue: 10 year: 2015 ident: pgen.1009017.ref049 article-title: Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR publication-title: Nat Protoc doi: 10.1038/nprot.2015.105 contributor: fullname: H Yang – volume: 19 start-page: 192 issue: 2 year: 2017 ident: pgen.1009017.ref006 article-title: Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples publication-title: Genet Med doi: 10.1038/gim.2016.90 contributor: fullname: R Walsh – volume: 41 start-page: 1149 issue: 4 year: 2009 ident: pgen.1009017.ref056 article-title: Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses publication-title: Behav Res Methods doi: 10.3758/BRM.41.4.1149 contributor: fullname: F Faul – volume: 150 start-page: 533 issue: 3 year: 2012 ident: pgen.1009017.ref007 article-title: Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling publication-title: Cell doi: 10.1016/j.cell.2012.06.028 contributor: fullname: M Chaki – volume: 48 start-page: 1570 issue: 12 year: 2016 ident: pgen.1009017.ref030 article-title: Prospective functional classification of all possible missense variants in PPARG publication-title: Nat Genet doi: 10.1038/ng.3700 contributor: fullname: AR Majithia – volume: 47 start-page: 6330 issue: 12 year: 2019 ident: pgen.1009017.ref035 article-title: Nonsense mutation-dependent reinitiation of translation in mammalian cells publication-title: Nucleic Acids Res doi: 10.1093/nar/gkz319 contributor: fullname: S Cohen – volume: 11 start-page: 801 issue: 8 year: 2014 ident: pgen.1009017.ref029 article-title: Deep mutational scanning: a new style of protein science publication-title: Nat Methods doi: 10.1038/nmeth.3027 contributor: fullname: DM Fowler – start-page: 166298 year: 2017 ident: pgen.1009017.ref005 article-title: Genome-wide genetic data on ~500,000 UK Biobank participants publication-title: bioRxiv contributor: fullname: C Bycroft – volume: 46 start-page: D1062 issue: D1 year: 2018 ident: pgen.1009017.ref031 article-title: ClinVar: improving access to variant interpretations and supporting evidence publication-title: Nucleic Acids Res doi: 10.1093/nar/gkx1153 contributor: fullname: MJ Landrum – year: 2020 ident: pgen.1009017.ref013 article-title: ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus publication-title: bioRxiv contributor: fullname: F Casoni – volume: 281 start-page: 5277 issue: 8 year: 2006 ident: pgen.1009017.ref023 article-title: OAZ regulates bone morphogenetic protein signaling through Smad6 activation publication-title: J Biol Chem doi: 10.1074/jbc.M510004200 contributor: fullname: M Ku – volume: 7 start-page: 248 issue: 4 year: 2010 ident: pgen.1009017.ref042 article-title: A method and server for predicting damaging missense mutations publication-title: Nat Methods doi: 10.1038/nmeth0410-248 contributor: fullname: IA Adzhubei – volume: 434 start-page: 231 issue: 2 year: 2018 ident: pgen.1009017.ref015 article-title: TBR2 antagonizes retinoic acid dependent neuronal differentiation by repressing Zfp423 during corticogenesis publication-title: Dev Biol doi: 10.1016/j.ydbio.2017.12.020 contributor: fullname: L Massimino – volume: 47 start-page: D886 issue: D1 year: 2019 ident: pgen.1009017.ref048 article-title: CADD: predicting the deleteriousness of variants throughout the human genome publication-title: Nucleic Acids Res doi: 10.1093/nar/gky1016 contributor: fullname: P Rentzsch – volume: 6 start-page: 111 issue: 1 year: 2017 ident: pgen.1009017.ref018 article-title: Fetal development of subcutaneous white adipose tissue is dependent on Zfp423 publication-title: Mol Metab doi: 10.1016/j.molmet.2016.11.009 contributor: fullname: M Shao – volume: 144 start-page: 3686 issue: 20 year: 2017 ident: pgen.1009017.ref027 article-title: Zfp423/ZNF423 regulates cell cycle progression, the mode of cell division and the DNA-damage response in Purkinje neuron progenitors publication-title: Development doi: 10.1242/dev.155077 contributor: fullname: F Casoni – volume: 54 start-page: 547 issue: 4 year: 2007 ident: pgen.1009017.ref014 article-title: Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis publication-title: Neuron doi: 10.1016/j.neuron.2007.04.029 contributor: fullname: LE Cheng – volume: 39 start-page: e118 issue: 17 year: 2011 ident: pgen.1009017.ref046 article-title: Predicting the functional impact of protein mutations: application to cancer genomics publication-title: Nucleic Acids Res doi: 10.1093/nar/gkr407 contributor: fullname: B Reva – volume: 17 start-page: 4159 issue: 11 year: 1997 ident: pgen.1009017.ref026 article-title: Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development publication-title: J Neurosci doi: 10.1523/JNEUROSCI.17-11-04159.1997 contributor: fullname: RY Tsai – volume: 103 start-page: 19424 issue: 51 year: 2006 ident: pgen.1009017.ref010 article-title: Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.0609184103 contributor: fullname: WA Alcaraz – volume: 8 start-page: e66514 issue: 6 year: 2013 ident: pgen.1009017.ref038 article-title: Zfp423 binds autoregulatory sites in P19 cell culture model publication-title: PLoS One doi: 10.1371/journal.pone.0066514 contributor: fullname: YW Cho – year: 2020 ident: pgen.1009017.ref009 article-title: ZNF423 orthologs are highly constrained in vertebrates but show domain-level plasticity across invertebrate lineages publication-title: bioRxiv contributor: fullname: BA Hamilton – volume: 355 start-page: 748 issue: 6326 year: 2017 ident: pgen.1009017.ref019 article-title: Regeneration of fat cells from myofibroblasts during wound healing publication-title: Science doi: 10.1126/science.aai8792 contributor: fullname: MV Plikus – volume: 264 start-page: 1772 issue: 5166 year: 1994 ident: pgen.1009017.ref053 article-title: Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation publication-title: Science doi: 10.1126/science.8209258 contributor: fullname: ME Gurney – volume: 44 start-page: W272 issue: W1 year: 2016 ident: pgen.1009017.ref041 article-title: CHOPCHOP v2: a web tool for the next generation of CRISPR genome engineering publication-title: Nucleic Acids Res doi: 10.1093/nar/gkw398 contributor: fullname: K Labun – volume: 329 start-page: 219 issue: 6136 year: 1987 ident: pgen.1009017.ref034 article-title: Functional inactivation of genes by dominant negative mutations publication-title: Nature doi: 10.1038/329219a0 contributor: fullname: I Herskowitz – volume: 17 start-page: 148 issue: 1 year: 2016 ident: pgen.1009017.ref040 article-title: Evaluation of off-target and on-target scoring algorithms and integration into the guide RNA selection tool CRISPOR publication-title: Genome Biol doi: 10.1186/s13059-016-1012-2 contributor: fullname: M Haeussler – volume: 39 start-page: 1614 issue: 11 year: 2018 ident: pgen.1009017.ref002 article-title: ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation publication-title: Hum Mutat doi: 10.1002/humu.23645 contributor: fullname: EA Rivera-Munoz – volume: 100 start-page: 229 issue: 2 year: 2000 ident: pgen.1009017.ref021 article-title: OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways publication-title: Cell doi: 10.1016/S0092-8674(00)81561-5 contributor: fullname: A Hata – volume: 15 start-page: 230 issue: 2 year: 2012 ident: pgen.1009017.ref017 article-title: Zfp423 expression identifies committed preadipocytes and localizes to adipose endothelial and perivascular cells publication-title: Cell Metab doi: 10.1016/j.cmet.2012.01.010 contributor: fullname: RK Gupta – volume: 18 start-page: 788 issue: 8 year: 2016 ident: pgen.1009017.ref032 article-title: Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features publication-title: Genet Med doi: 10.1038/gim.2015.161 contributor: fullname: JX Chong – start-page: 531210 year: 2019 ident: pgen.1009017.ref004 article-title: Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes publication-title: bioRxiv contributor: fullname: KJ Karczewski – volume: 48 start-page: 1112 issue: 10 year: 2016 ident: pgen.1009017.ref036 article-title: The rules and impact of nonsense-mediated mRNA decay in human cancers publication-title: Nat Genet doi: 10.1038/ng.3664 contributor: fullname: RG Lindeboom – volume: 88 start-page: 499 issue: 3 year: 2015 ident: pgen.1009017.ref008 article-title: Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease publication-title: Neuron doi: 10.1016/j.neuron.2015.09.048 contributor: fullname: E Karaca – year: 2001 ident: pgen.1009017.ref051 article-title: Motor coordination and balance in rodents publication-title: Curr Protoc Neurosci contributor: fullname: RJ Carter – volume: 6 start-page: 116 issue: 1 year: 2018 ident: pgen.1009017.ref050 article-title: Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data publication-title: Cell Syst doi: 10.1016/j.cels.2017.11.003 contributor: fullname: VE Gray – volume: 39 start-page: 421 issue: 5 year: 2019 ident: pgen.1009017.ref001 article-title: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders publication-title: Ann Lab Med doi: 10.3343/alm.2019.39.5.421 contributor: fullname: YE Kim – volume: 14 start-page: S3 issue: Suppl 3 year: 2013 ident: pgen.1009017.ref047 article-title: Identifying Mendelian disease genes with the variant effect scoring tool publication-title: BMC Genomics doi: 10.1186/1471-2164-14-S3-S3 contributor: fullname: H Carter – volume: 11 start-page: 361 issue: 4 year: 2014 ident: pgen.1009017.ref045 article-title: MutationTaster2: mutation prediction for the deep-sequencing age publication-title: Nat Methods doi: 10.1038/nmeth.2890 contributor: fullname: JM Schwarz |
RelatedPersons | Moores, John |
RelatedPersons_xml | – fullname: Moores, John |
SSID | ssj0035897 |
Score | 2.4212418 |
Snippet | Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple... |
SourceID | plos doaj pubmedcentral proquest gale crossref pubmed |
SourceType | Open Website Open Access Repository Aggregation Database Index Database |
StartPage | e1009017 |
SubjectTerms | Algorithms Alleles Amino acids Anatomy Animals Biology and Life Sciences Brain - pathology Brain abnormalities Brain architecture Brain Diseases - genetics Cancer Disease Models, Animal Female Gene Frequency - genetics Genetic aspects Genetic variation Genomics Health aspects Humans Intolerance Male Medicine Medicine and Health Sciences Mice Mice, Inbred C57BL Moores, John Mutation Nervous System Malformations - genetics Neural Tube Defects - genetics Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Nonsense mutation Patients Physiological aspects Proteins Proteins - genetics Proteins - metabolism Research and Analysis Methods Transcription Transcription Factors - genetics Zinc finger proteins Zinc Fingers |
SummonAdditionalLinks | – databaseName: DOAJ Directory of Open Access Journals dbid: DOA link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3Ni9QwFA8yIHgRv7e6ahTBy8ZtPtpsj6s4rIIjqCuLl5KkiS4M6bAzI-x9_3Dfa9qylQX34DX5dUrfe3n5JfM-CHmlXO7yRljWGNUwpSysudwqJpvKuioEYMF43_FpUR4dq48nxcmlVl8YE5bKAyfB7Ve8ct5o65WEnbvUVW6NgV0091IFZ1OdT14Mh6nkg2VxkNqqFIVkGsB90pzUfL_X0ZsVKAhjBGBD1JNNqavdP3ro2WrZrq-in39HUV7aluZ3yO2eT9LD9B13yQ0f75GbqcPk-X1y8WMxBypD-_Kp9DccjTHyZY9uzraxv67boyY29DSygJFaFFvjdOMwRLFbPYwEIKOAoth5ZenZ0Dp3Q88wOYG2AYANMlZqsecENTYiGV529VofkOP5-2_vjljfeIE5LcoNU7IMTjihPZdWV8ELJX3DjUN34A8aW3lghdYbbo0OQLBsgWVxTF4EKW0Q8iGZxTb6HUKtcCGUonEaeEvBQZPB-8CVVVwJL3VG2CD5epXqa9Tdn2waziVJhDVqqu41lZG3qJ4Ri9WxuwGwmbq3mfpfNpOR56jcOqWajmu8PgRnlLJ1M_KyQ2CFjIghOD_Ndr2uP3z-fg3Q18V1QF8moNc9KLRgS870uREgQyzPNUHuTpDgDNxkegftdRDduhYgdGwvzTk8Odjw1dMvxmn8UYy9i77dIgaOqAoz6zLyKJn8KH4pKjg_49N6shgm-pnOxNNfXRVzDW8G9vn4fyj0Cbkl8B4EW3uoXTKDJeSfAlnc2GedX_gDnwtmWw priority: 102 providerName: Directory of Open Access Journals – databaseName: ProQuest Central dbid: BENPR link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1Lb9QwELZgKxAXBOXRhQIGIXGpafzIujmhFnVVkLqgQlHFJbIdu1RaJctmF4k7P5yZxAkEVahX-8tDHs_4sz0PQl4ql7ikEJYVRhVMKQs6l1jFZJFZl4UALBjPO45nk6NT9f4sPYsHbnV0q-xsYmOoi8rhGfmuULDyKi05f7P4zrBqFN6uxhIa18mG4AqvaTcODmcfTzpbLNO9trxKmkqmYXsfg-ek5rtRVq8XICj0FYCFUQ8WpyaHf2-pR4t5VV9GQ__1pvxreZreIbcjr6T77US4S675cpPcaCtN_twkN4_jHfo98uvrbArshsaMqvQH7JbRGWaHrpbrMp7g7VBTFvSiZAGdtyhWy2naoYliAXtoCfA2QFEsxjL3rKumu6JLjFegVQBggSSWWixDQY0tkR_PmxSu98np9PDz2yMWazEwp8VkxZScBCec0J5Lq7PghZK-4MahhfB7hc08EEXrDbdGB-BcNsVMOSZJg5Q2CPmAjMqq9FuEWuFCmIjCaaAyKfeA9z5wZRVXwks9JqwTQr5oU27kzb2bhq1KO5o5Ci2PQhuTA5RUj8WE2U1DtTzPo_7lGc8cfMl6JYEATnSWWGOAjCVequCsHJNnKOe8jT7t1T7fB_vUBvCOyYsGgUkzSvTKOTfrus7fffhyBdCn2VVAJwPQqwgKFUwrZ2K4BIwhZuwaILcHSLAPbtC9hVO3G7o6_6NJ8GQ3nS_vft5340vRHa_01RoxsGtVGGw3Jg_b2d8PvxQZbKnxaT3Qi4F8hj3lxbcmsbmGLwMhffT_33pMbgk89MA6HmqbjEA5_BNghiv7NKr_b00EYlQ priority: 102 providerName: ProQuest – databaseName: Scholars Portal Open Access Journals dbid: M48 link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1bi9QwFA7riOKL6HrZ6qpRBF-2S3PpZPsgsorDKswI6sjiS0nSZF0Y2nE6I-67P9xz2rRYmYV9Tb605VzSL5dzDiEvpU1sUnATF1oWsZQGfC4xMhZFZmzmPbBg3O-YzsYnc_nxND3dIV3N1iDAeuvSDutJzVeLw98_L96Aw79uqjYo1g06XILI8dQffnHqGrnOpZBo81PZnyuI9ChTIYDuspGDH1STx7-frUfLRVVvo6L_36j85xc1uUNuB25Jj1tjuEt2XLlLbrTVJi92yc1pOEe_R_58n02A4dCQVZX-ghUzXog5oOvVpgy7eAdUlwU9L2OPF7goVsxp2qGJYhF7aPHwNEBRLMiycHFXUXdNVxizQCsPwAKJLDVYioJqUyJHXjRpXO-T-eT913cncajHEFvFx-tYirG33HLlmDAq8w4k7AqmLc4S7qgwmQOyaJxmRisPvMukmC1HJ6kXwnguHpBRWZVuj1DDrfdjXlgFdCZlDvDOeSaNZJI7oSISd0rIl23ajbw5e1OwXGmlmaPS8qC0iLxFTfVYTJrdNFSrszz4YJ6xzMKbjAPDkHj8lBitgZAlTkhvjYjIM9Rz3kag9q6fH8Mc1QbxRuRFg8DEGSXezDnTm7rOP3z6dgXQl9lVQJ8HoFcB5CswK6tDyATIELN2DZD7AyTMEXbQvYem24muzjkIHatOMwYjO3Pe3v2878aH4pW80lUbxMDKVWLAXUQettbfi1_wDJbVOFoN_GKgn2FPef6jSW6u4M1ASh9d_sWPyS2Omx5Yx0PukxE4hnsCzHBtnjbO_hcMLGMg priority: 102 providerName: Scholars Portal |
Title | ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities |
URI | https://www.ncbi.nlm.nih.gov/pubmed/32925911 https://www.proquest.com/docview/2451547311 https://search.proquest.com/docview/2442844331 https://pubmed.ncbi.nlm.nih.gov/PMC7515201 https://doaj.org/article/919cea7be434416790baa4390e34fcb3 http://dx.doi.org/10.1371/journal.pgen.1009017 |
Volume | 16 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LbxMxELbaICQuiHcXSjAIiUu3WT82zh6T0qggJVSFoojLau2120ipN8oDiTs_nJl9RCzqoeKSSPa3SeTxjL9x5kHIe2kiE-Vch3km81BKDToXaRmKPNEmcQ5YMN53TKb9s0v5eRbP9kjc5MKUQftGz4_94ubYz6_L2Mrljek1cWK988mJgkMYDq7ePtlXQjQuemV-RTyoOqrEsQgVePR1vpxQrFeL53gJssHwADgLsQmf4Ak4AYy1jqaygv_OTneWi2J9Gwn9N5byr8Np_Ig8rFklHVa__jHZs_4JuV_1mfz1lPz-MR0DoaF1EVX6ExxkjH85opvV1teXdkc08zmd-9BhvBbFBjnlOAxR7FkPIw4oKaAo9l9Z2LBpoLuhK0xRoIUDYI68lWrsPEEz7ZESL8qqrc_I5fj028lZWLdfCI3i_U0oRd8ZbriyTGiVOMulsDnLDBoFO8h1YoEbapsxnSkHNEvHWBwni2InhHZcPCcdX3h7QKjmxrk-z40C9hIzC3hrHZNaMsmtUAEJm5VPl1WVjbT8q02Bd1ItYYpCS2uhBWSE4tlhsUZ2OVCsrtJ6p6QJSwx8k7ZSAOfrqyTSWQb8K7JCOqNFQN6gcNMq4XSn6ekQTFKVsxuQdyUC62R4DMS5yrbrdfrpy_c7gL5O7wK6aIE-1CBXwF4yWZ0hAWuIRbpayMMWEkyCaU0f4H5tlm6dclh0bDLNGDzZ7OHbp9_upvFDMQLP22KLGHBUJebXBeRFteV3y98oUEBUSxla8mnPgGqXtcxrVX7530--Ig84XoFgVw95SDqgN_Y18MSN7oJ1mKkuuTccfRyN4X10Oj2_6Ja3LvA6kYNuaTn-AGZfbG4 |
link.rule.ids | 230,315,733,786,790,870,891,2115,2236,12083,21416,24346,27955,27956,31752,31753,33777,33778,43343,43838,53825,53827,74100,74657 |
linkProvider | National Library of Medicine |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1Jb9QwFLZgEMsFQVk6UKhBSFxqmtjOuDmhghhNoTNI0KIRF8t27FJplAyzIHHnh_Ne4gkEVahX-2WR3-Lv2W8h5IV0iUsKbllhZMGktKBziZVMFLl1eQiAgvG8YzwZjE7l-2k2jQduyxhWubGJtaEuKodn5Ptcws4rlUjT1_PvDLtG4e1qbKFxlVyTQkiUczVtHS6RHTTNVbJMMAXOfUydEyrdj5x6NQc2YaQAbIuqszXVFfxbO92bz6rlRSD031jKvzan4R1yO6JKetiIwV1yxZdb5HrTZ_LnFrkxjjfo98ivr5MhYBsa66nSH-ArYyjMHl0t1mU8v9ujpizoeckChm5R7JVTj8MQxfb1MBLgbUBFsRXLzLNNL90VXWC2Aq0CEBYIYanFJhTU2BLR8awu4HqfnA7fnbwdsdiJgTnFBysmxSA47rjyqbAqD55L4YvUOLQP_qCwuQeYaL1JrVEBEJfNsE6OSbIghA1cPCC9sir9NqGWuxAGvHAKgEyWeqD3PqTSylRyL1SfsA0T9LwpuKHrWzcFjkqzmhqZpiPT-uQNcqqlxXLZ9UC1ONNR-3Se5g6-ZL0UAP8GKk-sMQDFEi9kcFb0yS7yWTe5p63S60OwTk36bp88rymwZEaJMTlnZr1c6qOPXy5B9HlyGaJPHaKXkShUIFbOxGQJWEOs19Wh3OlQgnVwneltFN3N0i31Hz2CJzfifPH0s3YaX4rBeKWv1kgDPqvEVLs-edhIf7v8gufgUOPTqqMXHf50Z8rzb3VZcwVfBjj66P-_tUtujk7Gx_r4aPLhMbnF8fgDO3rIHdIDRfFPACOu7NPaEPwGLKVj2w |
linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1Lb9QwELZgERWXCsqjWwo1CIlLzSa2s25OqDxWLdAFAUUrLpbt2KXSKln2gcSdH85M4g0EVahXe_KQZzz-bM_MR8gT6RKXFNyywsiCSWlhziVWMlHk1uUhAArG846T8fDoVL6ZZJMY_7SIYZVrn1g76qJyeEY-4BJWXqlEmg5CDIv48Gr0fPadIYMU3rRGOo2r5BqskgnSOKhJu_kS2UFDtJJlginY6Mc0OqHSQdTasxmoDKMGYIlUnWWqrubf-uzebFotLgKk_8ZV_rVQjW6SzYgw6WFjErfIFV9ukesN5-TPLbJxEm_Tb5NfX8cjwDk01lalP2DfjGEx-3Q5X5XxLG-fmrKg5yULGMZFkTenbocmilT20BLgbSBFkZZl6tmaV3dJ55i5QKsAggXCWWqRkIIaWyJSntbFXO-Q09Hrzy-PWGRlYE7x4ZJJMQyOO658KqzKg-dS-CI1Dn2FPyhs7gEyWm9Sa1QA9GUzrJljkiwIYQMXd0mvrEq_TajlLoQhL5wCUJOlHuS9D6m0MpXcC9UnbK0EPWuKb-j6Bk7BpqUZTY1K01FpffICNdXKYunsuqGan-k4E3We5g6-ZL0UAAWHKk-sMQDLEi9kcFb0yR7qWTd5qK0D0IfgqZpU3j55XEtg-YwSDfHMrBYLffz-yyWEPo0vI_SxI_Q0CoUKzMqZmDgBY4i1uzqSux1J8BSu072NprseuoX-M6fgybU5X9z9qO3Gl2JgXumrFcrA_lVi2l2f3Gusvx1-wXPYXOPTqjMvOvrp9pTn3-oS5wq-DNB05_-_tUc2wAfod8fjt_fJDY4nIUjuIXdJD-aJfwBwcWkf1n7gNwrwaAc |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=ZNF423+patient+variants%2C+truncations%2C+and+in-frame+deletions+in+mice+define+an+allele-dependent+range+of+midline+brain+abnormalities&rft.jtitle=PLoS+genetics&rft.au=Deshpande%2C+Ojas&rft.au=Lara%2C+Raquel&rft.au=Zhang%2C+Oliver&rft.au=Concepcion%2C+Dorothy&rft.date=2020-09-14&rft.pub=Public+Library+of+Science&rft.eissn=1553-7404&rft.volume=16&rft.issue=9&rft_id=info:doi/10.1371%2Fjournal.pgen.1009017&rft.externalDocID=2451547311 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1553-7404&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1553-7404&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1553-7404&client=summon |