Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height
Objective The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1RR1353H variant in a male with extreme tall height, very low levels of...
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| Veröffentlicht in: | European journal of endocrinology 2018-08, Vol.179 (2), p.85-95 |
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| creator | Lin, Yingbo van Duyvenvoorde, Hermine A Liu, Hongyu Yang, Chen Warsito, Dudi Yin, Chang Kant, Sarina G Haglund, Felix Wit, Jan M Larsson, Olle |
| description | Objective The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1RR1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case’s mother and three sons all carried the variant, but so far only the eldest son (age 18 years) presented with tall height. We hypothesized that the variant could constitute an activating mutation. Design The IGF1RR1353H variant was investigated in Igf1r−/− mouse embryonic fibroblasts (R-cells) by cell cycle, colony formation and transcriptome analyses. Results The IGF1RR1353H (R-1353) exhibited significantly increased cell proliferation, G1-S progression and colony formation in soft agar. RNA sequencing identified 195 differentially expressed genes between R-WT and R-1353 (adjusted P |
| doi_str_mv | 10.1530/EJE-18-0176 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_swepu</sourceid><recordid>TN_cdi_swepub_primary_oai_swepub_ki_se_488240</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2043183825</sourcerecordid><originalsourceid>FETCH-LOGICAL-b484t-16196e27734d2fc6299e12c478dc8be1bcc673111eebc4a434dbbd27e18cf3c03</originalsourceid><addsrcrecordid>eNp90cGL1DAUBvAgijuunrxLwIsg1bwkbZOjDKOrLAii4C2k6etMdjvNmKQ7rn-9GWZ2BUFPfTx-36PkI-Q5sDdQC_Z29WlVgaoYtM0DsgDZ6qpR4vtDsmCKyUo2UpyRJyldMQZlZo_JGdet0pLpBbldbmy0LmP0v2z2YaJhoHaiZeVvymJa0y8ganFB_ZTm0U_V6K-RrmPY5w0dCguRAo3ocHcYb2z0dspFU0u3dkS69wXizxxxizTbcaQb9OtNfkoeDXZM-Oz0PSff3q--Li-qy88fPi7fXVadVDJX0IBukLetkD0fXMO1RuBOtqp3qkPonGtaAQCInZNWFtZ1PW8RlBuEY-KcVMe7aY-7uTO76Lc23ppgvTmtrsuERirF5cHrf_pdDP2f0F0QhNJQa65L9tUxW-CPGVM2W58cjqOdMMzJcCYFKKF4XejLv-hVmONUXsJw4AxUDUwV9fqoXAwpRRzufweYObRvSvsGlDm0X_SL082522J_b-_qLgCOoPMhOY9T9oN39r9HfwOXsLut</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2120185108</pqid></control><display><type>article</type><title>Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height</title><source>MEDLINE</source><source>Oxford University Press Journals All Titles (1996-Current)</source><creator>Lin, Yingbo ; van Duyvenvoorde, Hermine A ; Liu, Hongyu ; Yang, Chen ; Warsito, Dudi ; Yin, Chang ; Kant, Sarina G ; Haglund, Felix ; Wit, Jan M ; Larsson, Olle</creator><creatorcontrib>Lin, Yingbo ; van Duyvenvoorde, Hermine A ; Liu, Hongyu ; Yang, Chen ; Warsito, Dudi ; Yin, Chang ; Kant, Sarina G ; Haglund, Felix ; Wit, Jan M ; Larsson, Olle</creatorcontrib><description>Objective The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1RR1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case’s mother and three sons all carried the variant, but so far only the eldest son (age 18 years) presented with tall height. We hypothesized that the variant could constitute an activating mutation. Design The IGF1RR1353H variant was investigated in Igf1r−/− mouse embryonic fibroblasts (R-cells) by cell cycle, colony formation and transcriptome analyses. Results The IGF1RR1353H (R-1353) exhibited significantly increased cell proliferation, G1-S progression and colony formation in soft agar. RNA sequencing identified 195 differentially expressed genes between R-WT and R-1353 (adjusted P < 1E-100). Most genes were upregulated in R-1353, including the gene encoding the androgen receptor (AR). Gene expression profiling showed the most significant enrichment in extracellular matrix organization (P = 2.76E-7), collagen biosynthesis (P = 1.21E-5) and cell adhesion (P = 7.38E-5). Retrospective biochemical analysis of the index case revealed decreased testosterone and sex hormone-binding globulin levels, whereas LH and FSH were within normal ranges. This profile suggests an increased sensitivity to androgen, which is compatible with the enhanced expression of Ar in R-1353 cells. Conclusions Our findings suggest that R1353H constitutes an activating IGF1R variant. The possible deregulation of collagen turnover and increased androgen sensitivity implicates an association to tall phenotype in male carriers.</description><identifier>ISSN: 0804-4643</identifier><identifier>ISSN: 1479-683X</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/EJE-18-0176</identifier><identifier>PMID: 29789409</identifier><language>eng</language><publisher>England: Bioscientifica Ltd</publisher><subject>Adult ; Amino Acid Substitution ; Androgen receptors ; Androgens ; Animals ; Biochemical analysis ; Body Height ; Cell adhesion ; Cell cycle ; Cell Line ; Cell Proliferation ; Clinical Study ; Collagen ; Colonies ; Down-Regulation ; Embryo fibroblasts ; Extracellular matrix ; Follicle-stimulating hormone ; Gene expression ; Gene Expression Regulation, Developmental ; Globulins ; Green Fluorescent Proteins - chemistry ; Green Fluorescent Proteins - genetics ; Green Fluorescent Proteins - metabolism ; Growth Disorders - blood ; Growth Disorders - genetics ; Growth Disorders - metabolism ; Growth Disorders - physiopathology ; Height ; Heterozygote ; Humans ; Insulin ; Insulin-like growth factor I ; Insulin-Like Growth Factor I - analysis ; Insulin-like growth factors ; Luteinizing hormone ; Male ; Medicin och hälsovetenskap ; Mice, Knockout ; Mutation ; Pedigree ; Phenotypes ; Point Mutation ; Receptor, IGF Type 1 - chemistry ; Receptor, IGF Type 1 - genetics ; Receptor, IGF Type 1 - metabolism ; Receptors, Androgen - genetics ; Receptors, Androgen - metabolism ; Recombinant Fusion Proteins - metabolism ; Ribonucleic acid ; RNA ; RNA, Messenger - chemistry ; RNA, Messenger - metabolism ; Sequence Analysis, RNA ; Severity of Illness Index ; Testosterone</subject><ispartof>European journal of endocrinology, 2018-08, Vol.179 (2), p.85-95</ispartof><rights>2018 European Society of Endocrinology</rights><rights>2018 European Society of Endocrinology.</rights><rights>Copyright BioScientifica Ltd. Aug 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b484t-16196e27734d2fc6299e12c478dc8be1bcc673111eebc4a434dbbd27e18cf3c03</citedby><cites>FETCH-LOGICAL-b484t-16196e27734d2fc6299e12c478dc8be1bcc673111eebc4a434dbbd27e18cf3c03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29789409$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:138915929$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Lin, Yingbo</creatorcontrib><creatorcontrib>van Duyvenvoorde, Hermine A</creatorcontrib><creatorcontrib>Liu, Hongyu</creatorcontrib><creatorcontrib>Yang, Chen</creatorcontrib><creatorcontrib>Warsito, Dudi</creatorcontrib><creatorcontrib>Yin, Chang</creatorcontrib><creatorcontrib>Kant, Sarina G</creatorcontrib><creatorcontrib>Haglund, Felix</creatorcontrib><creatorcontrib>Wit, Jan M</creatorcontrib><creatorcontrib>Larsson, Olle</creatorcontrib><title>Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height</title><title>European journal of endocrinology</title><addtitle>Eur J Endocrinol</addtitle><description>Objective The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1RR1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case’s mother and three sons all carried the variant, but so far only the eldest son (age 18 years) presented with tall height. We hypothesized that the variant could constitute an activating mutation. Design The IGF1RR1353H variant was investigated in Igf1r−/− mouse embryonic fibroblasts (R-cells) by cell cycle, colony formation and transcriptome analyses. Results The IGF1RR1353H (R-1353) exhibited significantly increased cell proliferation, G1-S progression and colony formation in soft agar. RNA sequencing identified 195 differentially expressed genes between R-WT and R-1353 (adjusted P < 1E-100). Most genes were upregulated in R-1353, including the gene encoding the androgen receptor (AR). Gene expression profiling showed the most significant enrichment in extracellular matrix organization (P = 2.76E-7), collagen biosynthesis (P = 1.21E-5) and cell adhesion (P = 7.38E-5). Retrospective biochemical analysis of the index case revealed decreased testosterone and sex hormone-binding globulin levels, whereas LH and FSH were within normal ranges. This profile suggests an increased sensitivity to androgen, which is compatible with the enhanced expression of Ar in R-1353 cells. Conclusions Our findings suggest that R1353H constitutes an activating IGF1R variant. The possible deregulation of collagen turnover and increased androgen sensitivity implicates an association to tall phenotype in male carriers.</description><subject>Adult</subject><subject>Amino Acid Substitution</subject><subject>Androgen receptors</subject><subject>Androgens</subject><subject>Animals</subject><subject>Biochemical analysis</subject><subject>Body Height</subject><subject>Cell adhesion</subject><subject>Cell cycle</subject><subject>Cell Line</subject><subject>Cell Proliferation</subject><subject>Clinical Study</subject><subject>Collagen</subject><subject>Colonies</subject><subject>Down-Regulation</subject><subject>Embryo fibroblasts</subject><subject>Extracellular matrix</subject><subject>Follicle-stimulating hormone</subject><subject>Gene expression</subject><subject>Gene Expression Regulation, Developmental</subject><subject>Globulins</subject><subject>Green Fluorescent Proteins - chemistry</subject><subject>Green Fluorescent Proteins - genetics</subject><subject>Green Fluorescent Proteins - metabolism</subject><subject>Growth Disorders - blood</subject><subject>Growth Disorders - genetics</subject><subject>Growth Disorders - metabolism</subject><subject>Growth Disorders - physiopathology</subject><subject>Height</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Insulin</subject><subject>Insulin-like growth factor I</subject><subject>Insulin-Like Growth Factor I - analysis</subject><subject>Insulin-like growth factors</subject><subject>Luteinizing hormone</subject><subject>Male</subject><subject>Medicin och hälsovetenskap</subject><subject>Mice, Knockout</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenotypes</subject><subject>Point Mutation</subject><subject>Receptor, IGF Type 1 - chemistry</subject><subject>Receptor, IGF Type 1 - genetics</subject><subject>Receptor, IGF Type 1 - metabolism</subject><subject>Receptors, Androgen - genetics</subject><subject>Receptors, Androgen - metabolism</subject><subject>Recombinant Fusion Proteins - metabolism</subject><subject>Ribonucleic acid</subject><subject>RNA</subject><subject>RNA, Messenger - chemistry</subject><subject>RNA, Messenger - metabolism</subject><subject>Sequence Analysis, RNA</subject><subject>Severity of Illness Index</subject><subject>Testosterone</subject><issn>0804-4643</issn><issn>1479-683X</issn><issn>1479-683X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90cGL1DAUBvAgijuunrxLwIsg1bwkbZOjDKOrLAii4C2k6etMdjvNmKQ7rn-9GWZ2BUFPfTx-36PkI-Q5sDdQC_Z29WlVgaoYtM0DsgDZ6qpR4vtDsmCKyUo2UpyRJyldMQZlZo_JGdet0pLpBbldbmy0LmP0v2z2YaJhoHaiZeVvymJa0y8ganFB_ZTm0U_V6K-RrmPY5w0dCguRAo3ocHcYb2z0dspFU0u3dkS69wXizxxxizTbcaQb9OtNfkoeDXZM-Oz0PSff3q--Li-qy88fPi7fXVadVDJX0IBukLetkD0fXMO1RuBOtqp3qkPonGtaAQCInZNWFtZ1PW8RlBuEY-KcVMe7aY-7uTO76Lc23ppgvTmtrsuERirF5cHrf_pdDP2f0F0QhNJQa65L9tUxW-CPGVM2W58cjqOdMMzJcCYFKKF4XejLv-hVmONUXsJw4AxUDUwV9fqoXAwpRRzufweYObRvSvsGlDm0X_SL082522J_b-_qLgCOoPMhOY9T9oN39r9HfwOXsLut</recordid><startdate>20180801</startdate><enddate>20180801</enddate><creator>Lin, Yingbo</creator><creator>van Duyvenvoorde, Hermine A</creator><creator>Liu, Hongyu</creator><creator>Yang, Chen</creator><creator>Warsito, Dudi</creator><creator>Yin, Chang</creator><creator>Kant, Sarina G</creator><creator>Haglund, Felix</creator><creator>Wit, Jan M</creator><creator>Larsson, Olle</creator><general>Bioscientifica Ltd</general><general>Oxford University Press</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>7T5</scope><scope>H94</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope></search><sort><creationdate>20180801</creationdate><title>Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height</title><author>Lin, Yingbo ; van Duyvenvoorde, Hermine A ; Liu, Hongyu ; Yang, Chen ; Warsito, Dudi ; Yin, Chang ; Kant, Sarina G ; Haglund, Felix ; Wit, Jan M ; Larsson, Olle</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b484t-16196e27734d2fc6299e12c478dc8be1bcc673111eebc4a434dbbd27e18cf3c03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adult</topic><topic>Amino Acid Substitution</topic><topic>Androgen receptors</topic><topic>Androgens</topic><topic>Animals</topic><topic>Biochemical analysis</topic><topic>Body Height</topic><topic>Cell adhesion</topic><topic>Cell cycle</topic><topic>Cell Line</topic><topic>Cell Proliferation</topic><topic>Clinical Study</topic><topic>Collagen</topic><topic>Colonies</topic><topic>Down-Regulation</topic><topic>Embryo fibroblasts</topic><topic>Extracellular matrix</topic><topic>Follicle-stimulating hormone</topic><topic>Gene expression</topic><topic>Gene Expression Regulation, Developmental</topic><topic>Globulins</topic><topic>Green Fluorescent Proteins - chemistry</topic><topic>Green Fluorescent Proteins - genetics</topic><topic>Green Fluorescent Proteins - metabolism</topic><topic>Growth Disorders - blood</topic><topic>Growth Disorders - genetics</topic><topic>Growth Disorders - metabolism</topic><topic>Growth Disorders - physiopathology</topic><topic>Height</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Insulin</topic><topic>Insulin-like growth factor I</topic><topic>Insulin-Like Growth Factor I - analysis</topic><topic>Insulin-like growth factors</topic><topic>Luteinizing hormone</topic><topic>Male</topic><topic>Medicin och hälsovetenskap</topic><topic>Mice, Knockout</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Phenotypes</topic><topic>Point Mutation</topic><topic>Receptor, IGF Type 1 - chemistry</topic><topic>Receptor, IGF Type 1 - genetics</topic><topic>Receptor, IGF Type 1 - metabolism</topic><topic>Receptors, Androgen - genetics</topic><topic>Receptors, Androgen - metabolism</topic><topic>Recombinant Fusion Proteins - metabolism</topic><topic>Ribonucleic acid</topic><topic>RNA</topic><topic>RNA, Messenger - chemistry</topic><topic>RNA, Messenger - metabolism</topic><topic>Sequence Analysis, RNA</topic><topic>Severity of Illness Index</topic><topic>Testosterone</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lin, Yingbo</creatorcontrib><creatorcontrib>van Duyvenvoorde, Hermine A</creatorcontrib><creatorcontrib>Liu, Hongyu</creatorcontrib><creatorcontrib>Yang, Chen</creatorcontrib><creatorcontrib>Warsito, Dudi</creatorcontrib><creatorcontrib>Yin, Chang</creatorcontrib><creatorcontrib>Kant, Sarina G</creatorcontrib><creatorcontrib>Haglund, Felix</creatorcontrib><creatorcontrib>Wit, Jan M</creatorcontrib><creatorcontrib>Larsson, Olle</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><jtitle>European journal of endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lin, Yingbo</au><au>van Duyvenvoorde, Hermine A</au><au>Liu, Hongyu</au><au>Yang, Chen</au><au>Warsito, Dudi</au><au>Yin, Chang</au><au>Kant, Sarina G</au><au>Haglund, Felix</au><au>Wit, Jan M</au><au>Larsson, Olle</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height</atitle><jtitle>European journal of endocrinology</jtitle><addtitle>Eur J Endocrinol</addtitle><date>2018-08-01</date><risdate>2018</risdate><volume>179</volume><issue>2</issue><spage>85</spage><epage>95</epage><pages>85-95</pages><issn>0804-4643</issn><issn>1479-683X</issn><eissn>1479-683X</eissn><abstract>Objective The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1RR1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case’s mother and three sons all carried the variant, but so far only the eldest son (age 18 years) presented with tall height. We hypothesized that the variant could constitute an activating mutation. Design The IGF1RR1353H variant was investigated in Igf1r−/− mouse embryonic fibroblasts (R-cells) by cell cycle, colony formation and transcriptome analyses. Results The IGF1RR1353H (R-1353) exhibited significantly increased cell proliferation, G1-S progression and colony formation in soft agar. RNA sequencing identified 195 differentially expressed genes between R-WT and R-1353 (adjusted P < 1E-100). Most genes were upregulated in R-1353, including the gene encoding the androgen receptor (AR). Gene expression profiling showed the most significant enrichment in extracellular matrix organization (P = 2.76E-7), collagen biosynthesis (P = 1.21E-5) and cell adhesion (P = 7.38E-5). Retrospective biochemical analysis of the index case revealed decreased testosterone and sex hormone-binding globulin levels, whereas LH and FSH were within normal ranges. This profile suggests an increased sensitivity to androgen, which is compatible with the enhanced expression of Ar in R-1353 cells. Conclusions Our findings suggest that R1353H constitutes an activating IGF1R variant. The possible deregulation of collagen turnover and increased androgen sensitivity implicates an association to tall phenotype in male carriers.</abstract><cop>England</cop><pub>Bioscientifica Ltd</pub><pmid>29789409</pmid><doi>10.1530/EJE-18-0176</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Amino Acid Substitution Androgen receptors Androgens Animals Biochemical analysis Body Height Cell adhesion Cell cycle Cell Line Cell Proliferation Clinical Study Collagen Colonies Down-Regulation Embryo fibroblasts Extracellular matrix Follicle-stimulating hormone Gene expression Gene Expression Regulation, Developmental Globulins Green Fluorescent Proteins - chemistry Green Fluorescent Proteins - genetics Green Fluorescent Proteins - metabolism Growth Disorders - blood Growth Disorders - genetics Growth Disorders - metabolism Growth Disorders - physiopathology Height Heterozygote Humans Insulin Insulin-like growth factor I Insulin-Like Growth Factor I - analysis Insulin-like growth factors Luteinizing hormone Male Medicin och hälsovetenskap Mice, Knockout Mutation Pedigree Phenotypes Point Mutation Receptor, IGF Type 1 - chemistry Receptor, IGF Type 1 - genetics Receptor, IGF Type 1 - metabolism Receptors, Androgen - genetics Receptors, Androgen - metabolism Recombinant Fusion Proteins - metabolism Ribonucleic acid RNA RNA, Messenger - chemistry RNA, Messenger - metabolism Sequence Analysis, RNA Severity of Illness Index Testosterone |
| title | Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height |
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