Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy
We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in hem...
Gespeichert in:
| Veröffentlicht in: | Genes 2020-07, Vol.11 (8), p.870 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 8 |
| container_start_page | 870 |
| container_title | Genes |
| container_volume | 11 |
| creator | Cardiero, Giovanna Musollino, Gennaro Friscia, Maria Grazia Testa, Rosario Virruso, Lucrezia Di Girgenti, Caterina Caldora, Mercedes Colella Bisogno, Rosario Gaudiano, Carlo Manco, Giuseppe Lacerra, Giuseppina |
| description | We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in
to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in heme contacting, specific recognition of α-hemoglobin-stabilizing protein (AHSP), and α
β
interactions. The carriers showed α-thalassemia phenotype, but one also jaundice and cholelithiasis. Molecular identification of clusters of families in Southern Italy encouraged molecular characterization of mRNA, globin chain analyses, molecular modeling studies, and comparison with globin variants to understand the mechanisms causing the α-thalassemia phenotype. A normal amount of Hb Bernalda/Groene Hart mRNA were found, and molecular modeling highlighted additional H bonds with AHSP. For Hb Southern Italy, showing an unexpected α/β biosynthetic ratio typical of the β-thalassemia type, two different molecular mechanisms were shown: Reduction of the variant mRNA, likely due to the No-Go Decay for the presence of unused triplet ACG at cod 26, and protein instability due to the impairment of AHSP interaction. The UDP glucuronosyltransferase 1A (UGT1A1) genotyping was conclusive in the case of jaundice and cholelithiasis. Multiple approaches are needed to properly identify the mechanisms leading to unstable variants and the effect of a mutation. |
| doi_str_mv | 10.3390/genes11080870 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7466077</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A643670176</galeid><sourcerecordid>A643670176</sourcerecordid><originalsourceid>FETCH-LOGICAL-c443t-675bbed30723b80600d50fe5f06ace3f36f4b005ab5b085459b20d2932d8664e3</originalsourceid><addsrcrecordid>eNpdkc1PGzEQxa2qqCDg2GtlqZdeFmbXX7s9VEojmiABlQo9W_aunRg5Nl17K-W_r0MohfpiS-83b2b8EHpfwxkhHZyvTDCprqGFVsAbdNSAIBWlDXv74n2ITlO6h3IoNADsHTokjWB1x7sj5C-sNX3G0eLrKavsYkg4Brz5cTPDKgx44aN2Ad9mpZ13efsZ360Nnqtk0q5oqfFXMwblB3W-GGOZBy_VmB9Li3Ybp7wuOr7Mym9P0IFVPpnTp_sY_fx2cTdfVlffF5fz2VXVU0pyxQXT2gwEREN0CxxgYGANs8BVb4gl3FJdFlGaaWgZZZ1uYGg60gwt59SQY_Rl7_sw6Y0ZehPyqLx8GN1GjVsZlZOvleDWchV_S0E5ByGKwacngzH-mkzKcuNSb7xXwcQpyYYS4FQA7wr68T_0Pk67D9lTtKaCkn_USnkjXbCx9O13pnLGKeECasELVe2pfowpjcY-j1yD3AUuXwVe-A8v93ym_8ZL_gDmeqQd</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2430414743</pqid></control><display><type>article</type><title>Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy</title><source>Open Access: PubMed Central</source><source>MEDLINE</source><source>PubMed Central Open Access</source><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>EZB Electronic Journals Library</source><creator>Cardiero, Giovanna ; Musollino, Gennaro ; Friscia, Maria Grazia ; Testa, Rosario ; Virruso, Lucrezia ; Di Girgenti, Caterina ; Caldora, Mercedes ; Colella Bisogno, Rosario ; Gaudiano, Carlo ; Manco, Giuseppe ; Lacerra, Giuseppina</creator><creatorcontrib>Cardiero, Giovanna ; Musollino, Gennaro ; Friscia, Maria Grazia ; Testa, Rosario ; Virruso, Lucrezia ; Di Girgenti, Caterina ; Caldora, Mercedes ; Colella Bisogno, Rosario ; Gaudiano, Carlo ; Manco, Giuseppe ; Lacerra, Giuseppina</creatorcontrib><description>We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in
to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in heme contacting, specific recognition of α-hemoglobin-stabilizing protein (AHSP), and α
β
interactions. The carriers showed α-thalassemia phenotype, but one also jaundice and cholelithiasis. Molecular identification of clusters of families in Southern Italy encouraged molecular characterization of mRNA, globin chain analyses, molecular modeling studies, and comparison with globin variants to understand the mechanisms causing the α-thalassemia phenotype. A normal amount of Hb Bernalda/Groene Hart mRNA were found, and molecular modeling highlighted additional H bonds with AHSP. For Hb Southern Italy, showing an unexpected α/β biosynthetic ratio typical of the β-thalassemia type, two different molecular mechanisms were shown: Reduction of the variant mRNA, likely due to the No-Go Decay for the presence of unused triplet ACG at cod 26, and protein instability due to the impairment of AHSP interaction. The UDP glucuronosyltransferase 1A (UGT1A1) genotyping was conclusive in the case of jaundice and cholelithiasis. Multiple approaches are needed to properly identify the mechanisms leading to unstable variants and the effect of a mutation.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes11080870</identifier><identifier>PMID: 32751969</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adolescent ; Adult ; Aged ; Binding Sites ; Biosynthesis ; Blood Proteins - metabolism ; Cells, Cultured ; Child ; Female ; Gene mutations ; Genotyping ; Glucuronosyltransferase ; Glucuronosyltransferase - genetics ; Hematology ; Heme ; Hemoglobin ; Hemoglobin A - chemistry ; Hemoglobin A - genetics ; Hemoglobin A - metabolism ; Hemoglobins, Abnormal - chemistry ; Hemoglobins, Abnormal - genetics ; Hemoglobins, Abnormal - metabolism ; Humans ; Italy ; Jaundice ; Male ; Messenger RNA ; Middle Aged ; Molecular Chaperones - metabolism ; Molecular modelling ; mRNA stability ; Mutation ; Observations ; Phenotype ; Phenotypes ; Physiological aspects ; Protein Binding ; Protein Stability ; Proteins ; RNA Stability ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Software ; Studies ; Thalassemia ; Thalassemia - genetics ; Thalassemia - pathology</subject><ispartof>Genes, 2020-07, Vol.11 (8), p.870</ispartof><rights>COPYRIGHT 2020 MDPI AG</rights><rights>2020. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 by the authors. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c443t-675bbed30723b80600d50fe5f06ace3f36f4b005ab5b085459b20d2932d8664e3</citedby><cites>FETCH-LOGICAL-c443t-675bbed30723b80600d50fe5f06ace3f36f4b005ab5b085459b20d2932d8664e3</cites><orcidid>0000-0001-6191-3952 ; 0000-0003-1038-8363</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466077/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466077/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27923,27924,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32751969$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cardiero, Giovanna</creatorcontrib><creatorcontrib>Musollino, Gennaro</creatorcontrib><creatorcontrib>Friscia, Maria Grazia</creatorcontrib><creatorcontrib>Testa, Rosario</creatorcontrib><creatorcontrib>Virruso, Lucrezia</creatorcontrib><creatorcontrib>Di Girgenti, Caterina</creatorcontrib><creatorcontrib>Caldora, Mercedes</creatorcontrib><creatorcontrib>Colella Bisogno, Rosario</creatorcontrib><creatorcontrib>Gaudiano, Carlo</creatorcontrib><creatorcontrib>Manco, Giuseppe</creatorcontrib><creatorcontrib>Lacerra, Giuseppina</creatorcontrib><title>Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in
to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in heme contacting, specific recognition of α-hemoglobin-stabilizing protein (AHSP), and α
β
interactions. The carriers showed α-thalassemia phenotype, but one also jaundice and cholelithiasis. Molecular identification of clusters of families in Southern Italy encouraged molecular characterization of mRNA, globin chain analyses, molecular modeling studies, and comparison with globin variants to understand the mechanisms causing the α-thalassemia phenotype. A normal amount of Hb Bernalda/Groene Hart mRNA were found, and molecular modeling highlighted additional H bonds with AHSP. For Hb Southern Italy, showing an unexpected α/β biosynthetic ratio typical of the β-thalassemia type, two different molecular mechanisms were shown: Reduction of the variant mRNA, likely due to the No-Go Decay for the presence of unused triplet ACG at cod 26, and protein instability due to the impairment of AHSP interaction. The UDP glucuronosyltransferase 1A (UGT1A1) genotyping was conclusive in the case of jaundice and cholelithiasis. Multiple approaches are needed to properly identify the mechanisms leading to unstable variants and the effect of a mutation.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Binding Sites</subject><subject>Biosynthesis</subject><subject>Blood Proteins - metabolism</subject><subject>Cells, Cultured</subject><subject>Child</subject><subject>Female</subject><subject>Gene mutations</subject><subject>Genotyping</subject><subject>Glucuronosyltransferase</subject><subject>Glucuronosyltransferase - genetics</subject><subject>Hematology</subject><subject>Heme</subject><subject>Hemoglobin</subject><subject>Hemoglobin A - chemistry</subject><subject>Hemoglobin A - genetics</subject><subject>Hemoglobin A - metabolism</subject><subject>Hemoglobins, Abnormal - chemistry</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Hemoglobins, Abnormal - metabolism</subject><subject>Humans</subject><subject>Italy</subject><subject>Jaundice</subject><subject>Male</subject><subject>Messenger RNA</subject><subject>Middle Aged</subject><subject>Molecular Chaperones - metabolism</subject><subject>Molecular modelling</subject><subject>mRNA stability</subject><subject>Mutation</subject><subject>Observations</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Physiological aspects</subject><subject>Protein Binding</subject><subject>Protein Stability</subject><subject>Proteins</subject><subject>RNA Stability</subject><subject>RNA, Messenger - genetics</subject><subject>RNA, Messenger - metabolism</subject><subject>Software</subject><subject>Studies</subject><subject>Thalassemia</subject><subject>Thalassemia - genetics</subject><subject>Thalassemia - pathology</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkc1PGzEQxa2qqCDg2GtlqZdeFmbXX7s9VEojmiABlQo9W_aunRg5Nl17K-W_r0MohfpiS-83b2b8EHpfwxkhHZyvTDCprqGFVsAbdNSAIBWlDXv74n2ITlO6h3IoNADsHTokjWB1x7sj5C-sNX3G0eLrKavsYkg4Brz5cTPDKgx44aN2Ad9mpZ13efsZ360Nnqtk0q5oqfFXMwblB3W-GGOZBy_VmB9Li3Ybp7wuOr7Mym9P0IFVPpnTp_sY_fx2cTdfVlffF5fz2VXVU0pyxQXT2gwEREN0CxxgYGANs8BVb4gl3FJdFlGaaWgZZZ1uYGg60gwt59SQY_Rl7_sw6Y0ZehPyqLx8GN1GjVsZlZOvleDWchV_S0E5ByGKwacngzH-mkzKcuNSb7xXwcQpyYYS4FQA7wr68T_0Pk67D9lTtKaCkn_USnkjXbCx9O13pnLGKeECasELVe2pfowpjcY-j1yD3AUuXwVe-A8v93ym_8ZL_gDmeqQd</recordid><startdate>20200731</startdate><enddate>20200731</enddate><creator>Cardiero, Giovanna</creator><creator>Musollino, Gennaro</creator><creator>Friscia, Maria Grazia</creator><creator>Testa, Rosario</creator><creator>Virruso, Lucrezia</creator><creator>Di Girgenti, Caterina</creator><creator>Caldora, Mercedes</creator><creator>Colella Bisogno, Rosario</creator><creator>Gaudiano, Carlo</creator><creator>Manco, Giuseppe</creator><creator>Lacerra, Giuseppina</creator><general>MDPI AG</general><general>MDPI</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-6191-3952</orcidid><orcidid>https://orcid.org/0000-0003-1038-8363</orcidid></search><sort><creationdate>20200731</creationdate><title>Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy</title><author>Cardiero, Giovanna ; Musollino, Gennaro ; Friscia, Maria Grazia ; Testa, Rosario ; Virruso, Lucrezia ; Di Girgenti, Caterina ; Caldora, Mercedes ; Colella Bisogno, Rosario ; Gaudiano, Carlo ; Manco, Giuseppe ; Lacerra, Giuseppina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c443t-675bbed30723b80600d50fe5f06ace3f36f4b005ab5b085459b20d2932d8664e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Binding Sites</topic><topic>Biosynthesis</topic><topic>Blood Proteins - metabolism</topic><topic>Cells, Cultured</topic><topic>Child</topic><topic>Female</topic><topic>Gene mutations</topic><topic>Genotyping</topic><topic>Glucuronosyltransferase</topic><topic>Glucuronosyltransferase - genetics</topic><topic>Hematology</topic><topic>Heme</topic><topic>Hemoglobin</topic><topic>Hemoglobin A - chemistry</topic><topic>Hemoglobin A - genetics</topic><topic>Hemoglobin A - metabolism</topic><topic>Hemoglobins, Abnormal - chemistry</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Hemoglobins, Abnormal - metabolism</topic><topic>Humans</topic><topic>Italy</topic><topic>Jaundice</topic><topic>Male</topic><topic>Messenger RNA</topic><topic>Middle Aged</topic><topic>Molecular Chaperones - metabolism</topic><topic>Molecular modelling</topic><topic>mRNA stability</topic><topic>Mutation</topic><topic>Observations</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Physiological aspects</topic><topic>Protein Binding</topic><topic>Protein Stability</topic><topic>Proteins</topic><topic>RNA Stability</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>Software</topic><topic>Studies</topic><topic>Thalassemia</topic><topic>Thalassemia - genetics</topic><topic>Thalassemia - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cardiero, Giovanna</creatorcontrib><creatorcontrib>Musollino, Gennaro</creatorcontrib><creatorcontrib>Friscia, Maria Grazia</creatorcontrib><creatorcontrib>Testa, Rosario</creatorcontrib><creatorcontrib>Virruso, Lucrezia</creatorcontrib><creatorcontrib>Di Girgenti, Caterina</creatorcontrib><creatorcontrib>Caldora, Mercedes</creatorcontrib><creatorcontrib>Colella Bisogno, Rosario</creatorcontrib><creatorcontrib>Gaudiano, Carlo</creatorcontrib><creatorcontrib>Manco, Giuseppe</creatorcontrib><creatorcontrib>Lacerra, Giuseppina</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cardiero, Giovanna</au><au>Musollino, Gennaro</au><au>Friscia, Maria Grazia</au><au>Testa, Rosario</au><au>Virruso, Lucrezia</au><au>Di Girgenti, Caterina</au><au>Caldora, Mercedes</au><au>Colella Bisogno, Rosario</au><au>Gaudiano, Carlo</au><au>Manco, Giuseppe</au><au>Lacerra, Giuseppina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2020-07-31</date><risdate>2020</risdate><volume>11</volume><issue>8</issue><spage>870</spage><pages>870-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in
to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in heme contacting, specific recognition of α-hemoglobin-stabilizing protein (AHSP), and α
β
interactions. The carriers showed α-thalassemia phenotype, but one also jaundice and cholelithiasis. Molecular identification of clusters of families in Southern Italy encouraged molecular characterization of mRNA, globin chain analyses, molecular modeling studies, and comparison with globin variants to understand the mechanisms causing the α-thalassemia phenotype. A normal amount of Hb Bernalda/Groene Hart mRNA were found, and molecular modeling highlighted additional H bonds with AHSP. For Hb Southern Italy, showing an unexpected α/β biosynthetic ratio typical of the β-thalassemia type, two different molecular mechanisms were shown: Reduction of the variant mRNA, likely due to the No-Go Decay for the presence of unused triplet ACG at cod 26, and protein instability due to the impairment of AHSP interaction. The UDP glucuronosyltransferase 1A (UGT1A1) genotyping was conclusive in the case of jaundice and cholelithiasis. Multiple approaches are needed to properly identify the mechanisms leading to unstable variants and the effect of a mutation.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>32751969</pmid><doi>10.3390/genes11080870</doi><orcidid>https://orcid.org/0000-0001-6191-3952</orcidid><orcidid>https://orcid.org/0000-0003-1038-8363</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2073-4425 |
| ispartof | Genes, 2020-07, Vol.11 (8), p.870 |
| issn | 2073-4425 2073-4425 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7466077 |
| source | Open Access: PubMed Central; MEDLINE; PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB Electronic Journals Library |
| subjects | Adolescent Adult Aged Binding Sites Biosynthesis Blood Proteins - metabolism Cells, Cultured Child Female Gene mutations Genotyping Glucuronosyltransferase Glucuronosyltransferase - genetics Hematology Heme Hemoglobin Hemoglobin A - chemistry Hemoglobin A - genetics Hemoglobin A - metabolism Hemoglobins, Abnormal - chemistry Hemoglobins, Abnormal - genetics Hemoglobins, Abnormal - metabolism Humans Italy Jaundice Male Messenger RNA Middle Aged Molecular Chaperones - metabolism Molecular modelling mRNA stability Mutation Observations Phenotype Phenotypes Physiological aspects Protein Binding Protein Stability Proteins RNA Stability RNA, Messenger - genetics RNA, Messenger - metabolism Software Studies Thalassemia Thalassemia - genetics Thalassemia - pathology |
| title | Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-10T18%3A37%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Effect%20of%20Mutations%20on%20mRNA%20and%20Globin%20Stability:%20The%20Cases%20of%20Hb%20Bernalda/Groene%20Hart%20and%20Hb%20Southern%20Italy&rft.jtitle=Genes&rft.au=Cardiero,%20Giovanna&rft.date=2020-07-31&rft.volume=11&rft.issue=8&rft.spage=870&rft.pages=870-&rft.issn=2073-4425&rft.eissn=2073-4425&rft_id=info:doi/10.3390/genes11080870&rft_dat=%3Cgale_pubme%3EA643670176%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2430414743&rft_id=info:pmid/32751969&rft_galeid=A643670176&rfr_iscdi=true |