Loading…
Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)
[...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional.
Saved in:
| Published in: | Journal of medical genetics 2001-12, Vol.38 (12), p.874-876 |
|---|---|
| Main Authors: | , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-b630t-53b1c251622a87ccfcc26fbf8e4c2361671fa4662c29d8c5673f4c91d2ce06863 |
|---|---|
| cites | |
| container_end_page | 876 |
| container_issue | 12 |
| container_start_page | 874 |
| container_title | Journal of medical genetics |
| container_volume | 38 |
| creator | Kobayashi, Ichiro Shiari, Reza Yamada, Masafumi Kawamura, Nobuaki Okano, Motohiko Yara, Asao Iguchi, Akihiro Ishikawa, Nobuyoshi Ariga, Tadashi Sakiyama, Yukio Ochs, Hans D Kobayashi, Kunihiko |
| description | [...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional. |
| doi_str_mv | 10.1136/jmg.38.12.874 |
| format | article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734795</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A81762600</galeid><sourcerecordid>A81762600</sourcerecordid><originalsourceid>FETCH-LOGICAL-b630t-53b1c251622a87ccfcc26fbf8e4c2361671fa4662c29d8c5673f4c91d2ce06863</originalsourceid><addsrcrecordid>eNqFkt9v0zAQxyMEYmPwyCuyQEJDaop_JI7zgjSqDYa6H0gD9c1yHad1l9jFTjb6D_B3c6VlG2gC3YNl3-e-d767JHlO8JAQxt8u2tmQiSGhQ1FkD5JdknGRcpplD5NdjClNaV6yneRJjAuMCSsIf5zsEFJwwUq2m_w49VemQW3fqc56F5Gv0dHZ5Jwh61B37dEntVTORIOWABjXRXRtuzmybds7g6pVDGbWN7-CB2jpm5VxldfBOg8B89UAQYwJvy8T1Fh3aSoUV64KvjVo__j8cPLmafKoVk00z7bnXvLl6PBi9DEdn304Hh2M0ylnuEtzNiWa5oRTqkShda015fW0FibTlHHCC1KrjHOqaVkJnfOC1ZkuSUW1wVxwtpe82-gu-2lrKg3FBdXIZbCtCivplZV_epydy5m_kqRgWVHmIPB6KxD8t97ETrY2atM00CTfR1lQaHFJGYCv_gIXvg8OPgdaglAMtq7n5YaaqcZI62oPWfVaUh4IGBLlGAM0uAeaGWegQu9MbeH5Lp7eg4NVprX6H7wOPsI465t2ECzXOyZhxyQTklAJOwb8i7s9vKW3S3UraGNnvt_4VbiUMJAil6dfR_KkuMDjz-9P5Fpwf8NP28V_cv8EFmjpPw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1781202026</pqid></control><display><type>article</type><title>Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)</title><source>PubMed Central database</source><creator>Kobayashi, Ichiro ; Shiari, Reza ; Yamada, Masafumi ; Kawamura, Nobuaki ; Okano, Motohiko ; Yara, Asao ; Iguchi, Akihiro ; Ishikawa, Nobuyoshi ; Ariga, Tadashi ; Sakiyama, Yukio ; Ochs, Hans D ; Kobayashi, Kunihiko</creator><creatorcontrib>Kobayashi, Ichiro ; Shiari, Reza ; Yamada, Masafumi ; Kawamura, Nobuaki ; Okano, Motohiko ; Yara, Asao ; Iguchi, Akihiro ; Ishikawa, Nobuyoshi ; Ariga, Tadashi ; Sakiyama, Yukio ; Ochs, Hans D ; Kobayashi, Kunihiko</creatorcontrib><description>[...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.38.12.874</identifier><identifier>PMID: 11768393</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Abnormalities ; Asian Continental Ancestry Group - genetics ; Base Sequence ; Child ; Child, Preschool ; Cytokines ; Diabetes Mellitus, Type 1 - genetics ; DNA Mutational Analysis ; DNA-Binding Proteins - genetics ; Female ; Forkhead Transcription Factors ; Genes ; Genetic disorders ; Genetic Linkage - genetics ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases - genetics ; Japan ; Kidney Diseases - genetics ; Letters to the Editor ; Male ; Mutation ; Mutation - genetics ; Patients ; Polyendocrinopathies, Autoimmune - genetics ; Syndrome ; Thyroiditis, Autoimmune - genetics ; X chromosome ; X Chromosome - genetics</subject><ispartof>Journal of medical genetics, 2001-12, Vol.38 (12), p.874-876</ispartof><rights>Journal of Medical Genetics</rights><rights>COPYRIGHT 2001 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2001 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b630t-53b1c251622a87ccfcc26fbf8e4c2361671fa4662c29d8c5673f4c91d2ce06863</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734795/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734795/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11768393$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kobayashi, Ichiro</creatorcontrib><creatorcontrib>Shiari, Reza</creatorcontrib><creatorcontrib>Yamada, Masafumi</creatorcontrib><creatorcontrib>Kawamura, Nobuaki</creatorcontrib><creatorcontrib>Okano, Motohiko</creatorcontrib><creatorcontrib>Yara, Asao</creatorcontrib><creatorcontrib>Iguchi, Akihiro</creatorcontrib><creatorcontrib>Ishikawa, Nobuyoshi</creatorcontrib><creatorcontrib>Ariga, Tadashi</creatorcontrib><creatorcontrib>Sakiyama, Yukio</creatorcontrib><creatorcontrib>Ochs, Hans D</creatorcontrib><creatorcontrib>Kobayashi, Kunihiko</creatorcontrib><title>Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>[...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional.</description><subject>Abnormalities</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Base Sequence</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cytokines</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>DNA Mutational Analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Female</subject><subject>Forkhead Transcription Factors</subject><subject>Genes</subject><subject>Genetic disorders</subject><subject>Genetic Linkage - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infant, Newborn, Diseases - genetics</subject><subject>Japan</subject><subject>Kidney Diseases - genetics</subject><subject>Letters to the Editor</subject><subject>Male</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Patients</subject><subject>Polyendocrinopathies, Autoimmune - genetics</subject><subject>Syndrome</subject><subject>Thyroiditis, Autoimmune - genetics</subject><subject>X chromosome</subject><subject>X Chromosome - genetics</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><recordid>eNqFkt9v0zAQxyMEYmPwyCuyQEJDaop_JI7zgjSqDYa6H0gD9c1yHad1l9jFTjb6D_B3c6VlG2gC3YNl3-e-d767JHlO8JAQxt8u2tmQiSGhQ1FkD5JdknGRcpplD5NdjClNaV6yneRJjAuMCSsIf5zsEFJwwUq2m_w49VemQW3fqc56F5Gv0dHZ5Jwh61B37dEntVTORIOWABjXRXRtuzmybds7g6pVDGbWN7-CB2jpm5VxldfBOg8B89UAQYwJvy8T1Fh3aSoUV64KvjVo__j8cPLmafKoVk00z7bnXvLl6PBi9DEdn304Hh2M0ylnuEtzNiWa5oRTqkShda015fW0FibTlHHCC1KrjHOqaVkJnfOC1ZkuSUW1wVxwtpe82-gu-2lrKg3FBdXIZbCtCivplZV_epydy5m_kqRgWVHmIPB6KxD8t97ETrY2atM00CTfR1lQaHFJGYCv_gIXvg8OPgdaglAMtq7n5YaaqcZI62oPWfVaUh4IGBLlGAM0uAeaGWegQu9MbeH5Lp7eg4NVprX6H7wOPsI465t2ECzXOyZhxyQTklAJOwb8i7s9vKW3S3UraGNnvt_4VbiUMJAil6dfR_KkuMDjz-9P5Fpwf8NP28V_cv8EFmjpPw</recordid><startdate>20011201</startdate><enddate>20011201</enddate><creator>Kobayashi, Ichiro</creator><creator>Shiari, Reza</creator><creator>Yamada, Masafumi</creator><creator>Kawamura, Nobuaki</creator><creator>Okano, Motohiko</creator><creator>Yara, Asao</creator><creator>Iguchi, Akihiro</creator><creator>Ishikawa, Nobuyoshi</creator><creator>Ariga, Tadashi</creator><creator>Sakiyama, Yukio</creator><creator>Ochs, Hans D</creator><creator>Kobayashi, Kunihiko</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20011201</creationdate><title>Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)</title><author>Kobayashi, Ichiro ; Shiari, Reza ; Yamada, Masafumi ; Kawamura, Nobuaki ; Okano, Motohiko ; Yara, Asao ; Iguchi, Akihiro ; Ishikawa, Nobuyoshi ; Ariga, Tadashi ; Sakiyama, Yukio ; Ochs, Hans D ; Kobayashi, Kunihiko</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b630t-53b1c251622a87ccfcc26fbf8e4c2361671fa4662c29d8c5673f4c91d2ce06863</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Abnormalities</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Base Sequence</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cytokines</topic><topic>Diabetes Mellitus, Type 1 - genetics</topic><topic>DNA Mutational Analysis</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Female</topic><topic>Forkhead Transcription Factors</topic><topic>Genes</topic><topic>Genetic disorders</topic><topic>Genetic Linkage - genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infant, Newborn, Diseases - genetics</topic><topic>Japan</topic><topic>Kidney Diseases - genetics</topic><topic>Letters to the Editor</topic><topic>Male</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Patients</topic><topic>Polyendocrinopathies, Autoimmune - genetics</topic><topic>Syndrome</topic><topic>Thyroiditis, Autoimmune - genetics</topic><topic>X chromosome</topic><topic>X Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kobayashi, Ichiro</creatorcontrib><creatorcontrib>Shiari, Reza</creatorcontrib><creatorcontrib>Yamada, Masafumi</creatorcontrib><creatorcontrib>Kawamura, Nobuaki</creatorcontrib><creatorcontrib>Okano, Motohiko</creatorcontrib><creatorcontrib>Yara, Asao</creatorcontrib><creatorcontrib>Iguchi, Akihiro</creatorcontrib><creatorcontrib>Ishikawa, Nobuyoshi</creatorcontrib><creatorcontrib>Ariga, Tadashi</creatorcontrib><creatorcontrib>Sakiyama, Yukio</creatorcontrib><creatorcontrib>Ochs, Hans D</creatorcontrib><creatorcontrib>Kobayashi, Kunihiko</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>ProQuest Central (Corporate)</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</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>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Science Journals</collection><collection>Biological Science 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>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kobayashi, Ichiro</au><au>Shiari, Reza</au><au>Yamada, Masafumi</au><au>Kawamura, Nobuaki</au><au>Okano, Motohiko</au><au>Yara, Asao</au><au>Iguchi, Akihiro</au><au>Ishikawa, Nobuyoshi</au><au>Ariga, Tadashi</au><au>Sakiyama, Yukio</au><au>Ochs, Hans D</au><au>Kobayashi, Kunihiko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2001-12-01</date><risdate>2001</risdate><volume>38</volume><issue>12</issue><spage>874</spage><epage>876</epage><pages>874-876</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>[...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11768393</pmid><doi>10.1136/jmg.38.12.874</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-2593 |
| ispartof | Journal of medical genetics, 2001-12, Vol.38 (12), p.874-876 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734795 |
| source | PubMed Central database |
| subjects | Abnormalities Asian Continental Ancestry Group - genetics Base Sequence Child Child, Preschool Cytokines Diabetes Mellitus, Type 1 - genetics DNA Mutational Analysis DNA-Binding Proteins - genetics Female Forkhead Transcription Factors Genes Genetic disorders Genetic Linkage - genetics Humans Infant Infant, Newborn Infant, Newborn, Diseases - genetics Japan Kidney Diseases - genetics Letters to the Editor Male Mutation Mutation - genetics Patients Polyendocrinopathies, Autoimmune - genetics Syndrome Thyroiditis, Autoimmune - genetics X chromosome X Chromosome - genetics |
| title | Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T11%3A00%3A56IST&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=Novel%20mutations%20of%20FOXP3%20in%20two%20Japanese%20patients%20with%20immune%20dysregulation,%20polyendocrinopathy,%20enteropathy,%20X%20linked%20syndrome%20(IPEX)&rft.jtitle=Journal%20of%20medical%20genetics&rft.au=Kobayashi,%20Ichiro&rft.date=2001-12-01&rft.volume=38&rft.issue=12&rft.spage=874&rft.epage=876&rft.pages=874-876&rft.issn=0022-2593&rft.eissn=1468-6244&rft.coden=JMDGAE&rft_id=info:doi/10.1136/jmg.38.12.874&rft_dat=%3Cgale_pubme%3EA81762600%3C/gale_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-b630t-53b1c251622a87ccfcc26fbf8e4c2361671fa4662c29d8c5673f4c91d2ce06863%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1781202026&rft_id=info:pmid/11768393&rft_galeid=A81762600&rfr_iscdi=true |