The AKT genes and their roles in various disorders
AKT (AK mouse plus Transforming or Thymoma) is a common oncogene expressed in most tissues. Both AKT2 and AKT3, although important, have more limited distributions. The regulation of all three genes depends on two receptors—a receptor tyrosine kinase with a growth factor ligand, and a G protein coup...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part A 2013-12, Vol.161A (12), p.2931-2937 |
|---|---|
| 1. Verfasser: | |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 2937 |
|---|---|
| container_issue | 12 |
| container_start_page | 2931 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 161A |
| creator | Cohen Jr, M. Michael |
| description | AKT (AK mouse plus Transforming or Thymoma) is a common oncogene expressed in most tissues. Both AKT2 and AKT3, although important, have more limited distributions. The regulation of all three genes depends on two receptors—a receptor tyrosine kinase with a growth factor ligand, and a G protein coupled receptor, also with a ligand together with an explanation of how their downsteam components function. AKT2 is amplified or overexpressed in cancer with a higher frequency than those found with AKT1. AKT1 is cardioprotective to the heart by supporting its physiological growth and function. AKT2 is closely linked to Type II diabetes and the implications of various types of mutations are discussed. Various AKT3 mutations are important in neurological disorders, such as microcephaly, hemimegalencephaly, and megalencephaly syndromes. Finally, a reduced level of AKT1 in the frontal cortex has been found during post‐mortem brain studies of schizophrenic patients in the populations of many countries. © 2013 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.36101 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1492621757</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1461344865</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4631-f21da3a4fbc438bca708821b0b93d5aadb2fb0ea3c5218641836b60966b9484a3</originalsourceid><addsrcrecordid>eNqNkTtPwzAURi0EgvLYmFEkFgZSbF_bccaCoLwRVYHRshOHpqQJ2C2Pf49LSweGism2dO7xd_UhtEtwm2BMj_Rw9NzWbRAEkxXUIpzTmEmA1cWd8g206f0QY8A8EetogzIMKZFJC9H-wEadq370bGvrI13n0XhgSxe5pgrvso7etSubiY_y0jcut85vo7VCV97uzM8t9HB22j85j6_vuhcnnes4YwJIXFCSa9CsMBkDaTKdYCkpMdikkHOtc0MLg62GjFMiBSMShBE4FcKkTDINW-hg5n11zdvE-rEalT6zVaVrGwIpwlIqKEl48g9UEGBMCh7Q_T_osJm4OiyiQowEQhCeLqOCKwECPJ1-ezijMtd472yhXl050u5LEaym5ahpOUqrn3ICvjeXTszI5gv4t40AsBnwUVb2a6lMdS5vup1fbzwbK_3Yfi7GtHtRIWrC1dNtVwk47t33eo-qD99RTKYS</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1467313597</pqid></control><display><type>article</type><title>The AKT genes and their roles in various disorders</title><source>MEDLINE</source><source>Wiley Journals</source><creator>Cohen Jr, M. Michael</creator><creatorcontrib>Cohen Jr, M. Michael</creatorcontrib><description>AKT (AK mouse plus Transforming or Thymoma) is a common oncogene expressed in most tissues. Both AKT2 and AKT3, although important, have more limited distributions. The regulation of all three genes depends on two receptors—a receptor tyrosine kinase with a growth factor ligand, and a G protein coupled receptor, also with a ligand together with an explanation of how their downsteam components function. AKT2 is amplified or overexpressed in cancer with a higher frequency than those found with AKT1. AKT1 is cardioprotective to the heart by supporting its physiological growth and function. AKT2 is closely linked to Type II diabetes and the implications of various types of mutations are discussed. Various AKT3 mutations are important in neurological disorders, such as microcephaly, hemimegalencephaly, and megalencephaly syndromes. Finally, a reduced level of AKT1 in the frontal cortex has been found during post‐mortem brain studies of schizophrenic patients in the populations of many countries. © 2013 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.36101</identifier><identifier>PMID: 24039187</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>5 bisphosphate and 3 ; 5 trisphosphate ; AKT protein ; AKT1 ; AKT1 protein ; AKT2 ; AKT2 protein ; AKT3 ; Animals ; Cancer ; Cardiovascular Diseases - genetics ; Cardiovascular Diseases - pathology ; cellular functions of AKT effectors ; Cortex (frontal) ; Diabetes mellitus ; Diabetes Mellitus, Type 2 - etiology ; Diabetes Mellitus, Type 2 - genetics ; G protein coupled receptor ; Gene regulation ; Humans ; Ligands ; Megalencephaly ; Mice ; Microencephaly ; mTORC2 ; Mutation ; Neoplasms - genetics ; Neoplasms - pathology ; Nervous System Diseases - genetics ; Nervous System Diseases - pathology ; Neurological diseases ; Oncogene Protein v-akt - genetics ; Oncogene Protein v-akt - metabolism ; phosphatydlinositol 3 kinase and 3 kinase gamma ; phosphatydlinositol 4 ; phosphatydlinositol 4,5 bisphosphate and 3,4,5 trisphosphate ; Protein-tyrosine kinase receptors ; Proto-Oncogene Proteins c-akt - genetics ; PTEN ; RAS ; receptor tyrosine kinase ; Receptors, G-Protein-Coupled - genetics ; Receptors, G-Protein-Coupled - metabolism ; Signal Transduction ; Thymoma</subject><ispartof>American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2931-2937</ispartof><rights>2013 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4631-f21da3a4fbc438bca708821b0b93d5aadb2fb0ea3c5218641836b60966b9484a3</citedby><cites>FETCH-LOGICAL-c4631-f21da3a4fbc438bca708821b0b93d5aadb2fb0ea3c5218641836b60966b9484a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.36101$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.36101$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24039187$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cohen Jr, M. Michael</creatorcontrib><title>The AKT genes and their roles in various disorders</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>AKT (AK mouse plus Transforming or Thymoma) is a common oncogene expressed in most tissues. Both AKT2 and AKT3, although important, have more limited distributions. The regulation of all three genes depends on two receptors—a receptor tyrosine kinase with a growth factor ligand, and a G protein coupled receptor, also with a ligand together with an explanation of how their downsteam components function. AKT2 is amplified or overexpressed in cancer with a higher frequency than those found with AKT1. AKT1 is cardioprotective to the heart by supporting its physiological growth and function. AKT2 is closely linked to Type II diabetes and the implications of various types of mutations are discussed. Various AKT3 mutations are important in neurological disorders, such as microcephaly, hemimegalencephaly, and megalencephaly syndromes. Finally, a reduced level of AKT1 in the frontal cortex has been found during post‐mortem brain studies of schizophrenic patients in the populations of many countries. © 2013 Wiley Periodicals, Inc.</description><subject>5 bisphosphate and 3</subject><subject>5 trisphosphate</subject><subject>AKT protein</subject><subject>AKT1</subject><subject>AKT1 protein</subject><subject>AKT2</subject><subject>AKT2 protein</subject><subject>AKT3</subject><subject>Animals</subject><subject>Cancer</subject><subject>Cardiovascular Diseases - genetics</subject><subject>Cardiovascular Diseases - pathology</subject><subject>cellular functions of AKT effectors</subject><subject>Cortex (frontal)</subject><subject>Diabetes mellitus</subject><subject>Diabetes Mellitus, Type 2 - etiology</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>G protein coupled receptor</subject><subject>Gene regulation</subject><subject>Humans</subject><subject>Ligands</subject><subject>Megalencephaly</subject><subject>Mice</subject><subject>Microencephaly</subject><subject>mTORC2</subject><subject>Mutation</subject><subject>Neoplasms - genetics</subject><subject>Neoplasms - pathology</subject><subject>Nervous System Diseases - genetics</subject><subject>Nervous System Diseases - pathology</subject><subject>Neurological diseases</subject><subject>Oncogene Protein v-akt - genetics</subject><subject>Oncogene Protein v-akt - metabolism</subject><subject>phosphatydlinositol 3 kinase and 3 kinase gamma</subject><subject>phosphatydlinositol 4</subject><subject>phosphatydlinositol 4,5 bisphosphate and 3,4,5 trisphosphate</subject><subject>Protein-tyrosine kinase receptors</subject><subject>Proto-Oncogene Proteins c-akt - genetics</subject><subject>PTEN</subject><subject>RAS</subject><subject>receptor tyrosine kinase</subject><subject>Receptors, G-Protein-Coupled - genetics</subject><subject>Receptors, G-Protein-Coupled - metabolism</subject><subject>Signal Transduction</subject><subject>Thymoma</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkTtPwzAURi0EgvLYmFEkFgZSbF_bccaCoLwRVYHRshOHpqQJ2C2Pf49LSweGism2dO7xd_UhtEtwm2BMj_Rw9NzWbRAEkxXUIpzTmEmA1cWd8g206f0QY8A8EetogzIMKZFJC9H-wEadq370bGvrI13n0XhgSxe5pgrvso7etSubiY_y0jcut85vo7VCV97uzM8t9HB22j85j6_vuhcnnes4YwJIXFCSa9CsMBkDaTKdYCkpMdikkHOtc0MLg62GjFMiBSMShBE4FcKkTDINW-hg5n11zdvE-rEalT6zVaVrGwIpwlIqKEl48g9UEGBMCh7Q_T_osJm4OiyiQowEQhCeLqOCKwECPJ1-ezijMtd472yhXl050u5LEaym5ahpOUqrn3ICvjeXTszI5gv4t40AsBnwUVb2a6lMdS5vup1fbzwbK_3Yfi7GtHtRIWrC1dNtVwk47t33eo-qD99RTKYS</recordid><startdate>201312</startdate><enddate>201312</enddate><creator>Cohen Jr, M. Michael</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201312</creationdate><title>The AKT genes and their roles in various disorders</title><author>Cohen Jr, M. Michael</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4631-f21da3a4fbc438bca708821b0b93d5aadb2fb0ea3c5218641836b60966b9484a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>5 bisphosphate and 3</topic><topic>5 trisphosphate</topic><topic>AKT protein</topic><topic>AKT1</topic><topic>AKT1 protein</topic><topic>AKT2</topic><topic>AKT2 protein</topic><topic>AKT3</topic><topic>Animals</topic><topic>Cancer</topic><topic>Cardiovascular Diseases - genetics</topic><topic>Cardiovascular Diseases - pathology</topic><topic>cellular functions of AKT effectors</topic><topic>Cortex (frontal)</topic><topic>Diabetes mellitus</topic><topic>Diabetes Mellitus, Type 2 - etiology</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>G protein coupled receptor</topic><topic>Gene regulation</topic><topic>Humans</topic><topic>Ligands</topic><topic>Megalencephaly</topic><topic>Mice</topic><topic>Microencephaly</topic><topic>mTORC2</topic><topic>Mutation</topic><topic>Neoplasms - genetics</topic><topic>Neoplasms - pathology</topic><topic>Nervous System Diseases - genetics</topic><topic>Nervous System Diseases - pathology</topic><topic>Neurological diseases</topic><topic>Oncogene Protein v-akt - genetics</topic><topic>Oncogene Protein v-akt - metabolism</topic><topic>phosphatydlinositol 3 kinase and 3 kinase gamma</topic><topic>phosphatydlinositol 4</topic><topic>phosphatydlinositol 4,5 bisphosphate and 3,4,5 trisphosphate</topic><topic>Protein-tyrosine kinase receptors</topic><topic>Proto-Oncogene Proteins c-akt - genetics</topic><topic>PTEN</topic><topic>RAS</topic><topic>receptor tyrosine kinase</topic><topic>Receptors, G-Protein-Coupled - genetics</topic><topic>Receptors, G-Protein-Coupled - metabolism</topic><topic>Signal Transduction</topic><topic>Thymoma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cohen Jr, M. Michael</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cohen Jr, M. Michael</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The AKT genes and their roles in various disorders</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2013-12</date><risdate>2013</risdate><volume>161A</volume><issue>12</issue><spage>2931</spage><epage>2937</epage><pages>2931-2937</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>AKT (AK mouse plus Transforming or Thymoma) is a common oncogene expressed in most tissues. Both AKT2 and AKT3, although important, have more limited distributions. The regulation of all three genes depends on two receptors—a receptor tyrosine kinase with a growth factor ligand, and a G protein coupled receptor, also with a ligand together with an explanation of how their downsteam components function. AKT2 is amplified or overexpressed in cancer with a higher frequency than those found with AKT1. AKT1 is cardioprotective to the heart by supporting its physiological growth and function. AKT2 is closely linked to Type II diabetes and the implications of various types of mutations are discussed. Various AKT3 mutations are important in neurological disorders, such as microcephaly, hemimegalencephaly, and megalencephaly syndromes. Finally, a reduced level of AKT1 in the frontal cortex has been found during post‐mortem brain studies of schizophrenic patients in the populations of many countries. © 2013 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>24039187</pmid><doi>10.1002/ajmg.a.36101</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2931-2937 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1492621757 |
| source | MEDLINE; Wiley Journals |
| subjects | 5 bisphosphate and 3 5 trisphosphate AKT protein AKT1 AKT1 protein AKT2 AKT2 protein AKT3 Animals Cancer Cardiovascular Diseases - genetics Cardiovascular Diseases - pathology cellular functions of AKT effectors Cortex (frontal) Diabetes mellitus Diabetes Mellitus, Type 2 - etiology Diabetes Mellitus, Type 2 - genetics G protein coupled receptor Gene regulation Humans Ligands Megalencephaly Mice Microencephaly mTORC2 Mutation Neoplasms - genetics Neoplasms - pathology Nervous System Diseases - genetics Nervous System Diseases - pathology Neurological diseases Oncogene Protein v-akt - genetics Oncogene Protein v-akt - metabolism phosphatydlinositol 3 kinase and 3 kinase gamma phosphatydlinositol 4 phosphatydlinositol 4,5 bisphosphate and 3,4,5 trisphosphate Protein-tyrosine kinase receptors Proto-Oncogene Proteins c-akt - genetics PTEN RAS receptor tyrosine kinase Receptors, G-Protein-Coupled - genetics Receptors, G-Protein-Coupled - metabolism Signal Transduction Thymoma |
| title | The AKT genes and their roles in various disorders |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T04%3A14%3A44IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20AKT%20genes%20and%20their%20roles%20in%20various%20disorders&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Cohen%20Jr,%20M.%20Michael&rft.date=2013-12&rft.volume=161A&rft.issue=12&rft.spage=2931&rft.epage=2937&rft.pages=2931-2937&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.36101&rft_dat=%3Cproquest_cross%3E1461344865%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1467313597&rft_id=info:pmid/24039187&rfr_iscdi=true |