FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2001337435> ?p ?o ?g. }

• W2001337435 endingPage "619" @default.
• W2001337435 startingPage "613" @default.
• W2001337435 abstract "T4-binding globulin (TBG) is the major thyroid hormone transport protein in humans. Inherited abnormalities in the level of serum TBG have been classified as partial deficiency, complete deficiency and excess. A single nucleotide deletion or substitution in the TBG gene, located on Xq22, has been detected in partial and complete deficiencies. As for inherited TBG excess, the gene amplification has been recognized in two Japanese families recently. In this study, an additional three Japanese families, one familial (F-I) and two sporadic TBG excess (F-II, F-III), were analyzed. Serum TBG levels in hemizygous males were 73, 47 and 42 microg/ml, three- to two-fold the normal value. The molecule had normal properties in terms of heat stability and isoelectric focussing pattern. The gene dosage of TBG was evaluated by coamplification with autosomal betaGlobin or X-chromosomal Duchenne Muscular Dystrophy (DMD) and subsequent quantitation by HPLC. The TBG/betaGlobin ratios of the affected male and female of F-I were 3.09- and 3.86-times, respectively, compared to that of the normal males. The TBG/DMD ratios were 2.93- and 2.09-times, respectively. These results are compatible with three copies of the TBG gene on the affected X-chromosome. Similarly, a twofold increase in gene dosage was demonstrated in the affected males of sporadic cases. Their mothers with normal TBG values had the same TBG gene dosage as normal females, suggesting that de novo gene duplication arose in gametes probably during meiosis. Amplification of the TBG gene was not recognized in these three families by in situ hybridization of prometaphase chromosomes. Though the mechanism remains unproved, gene amplification of TBG was considered to be a common cause for inherited TBG excess." @default.
• W2001337435 created "2016-06-24" @default.
• W2001337435 creator A5002136647 @default.
• W2001337435 creator A5008870057 @default.
• W2001337435 creator A5010705212 @default.
• W2001337435 creator A5041990493 @default.
• W2001337435 creator A5046714440 @default.
• W2001337435 creator A5059324157 @default.
• W2001337435 creator A5079410680 @default.
• W2001337435 creator A5091072052 @default.
• W2001337435 date "1999-01-01" @default.
• W2001337435 modified "2023-10-13" @default.
• W2001337435 title "Gene Amplification as a Common Cause of Inherited Thyroxine-Binding Globulin Excess. Analysis of One Familial and Two Sporadic Cases." @default.
• W2001337435 cites W1963543996 @default.
• W2001337435 cites W1965616671 @default.
• W2001337435 cites W1967844640 @default.
• W2001337435 cites W1976890484 @default.
• W2001337435 cites W1990441829 @default.
• W2001337435 cites W1995892211 @default.
• W2001337435 cites W2003555994 @default.
• W2001337435 cites W200669903 @default.
• W2001337435 cites W2011803645 @default.
• W2001337435 cites W2012891737 @default.
• W2001337435 cites W2017681394 @default.
• W2001337435 cites W2026919223 @default.
• W2001337435 cites W2029146706 @default.
• W2001337435 cites W2032890482 @default.
• W2001337435 cites W2033070852 @default.
• W2001337435 cites W2037411213 @default.
• W2001337435 cites W2046645487 @default.
• W2001337435 cites W2050633666 @default.
• W2001337435 cites W2054722981 @default.
• W2001337435 cites W2062669190 @default.
• W2001337435 cites W2067494028 @default.
• W2001337435 cites W2070215143 @default.
• W2001337435 cites W2089274004 @default.
• W2001337435 cites W2103256993 @default.
• W2001337435 cites W2128043174 @default.
• W2001337435 cites W2140036896 @default.
• W2001337435 cites W2153041807 @default.
• W2001337435 cites W2155104744 @default.
• W2001337435 cites W2326423156 @default.
• W2001337435 cites W33958008 @default.
• W2001337435 doi "https://doi.org/10.1507/endocrj.46.613" @default.
• W2001337435 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10580756" @default.
• W2001337435 hasPublicationYear "1999" @default.
• W2001337435 type Work @default.
• W2001337435 sameAs 2001337435 @default.
• W2001337435 citedByCount "17" @default.
• W2001337435 countsByYear W20013374352014 @default.
• W2001337435 countsByYear W20013374352015 @default.
• W2001337435 countsByYear W20013374352016 @default.
• W2001337435 crossrefType "journal-article" @default.
• W2001337435 hasAuthorship W2001337435A5002136647 @default.
• W2001337435 hasAuthorship W2001337435A5008870057 @default.
• W2001337435 hasAuthorship W2001337435A5010705212 @default.
• W2001337435 hasAuthorship W2001337435A5041990493 @default.
• W2001337435 hasAuthorship W2001337435A5046714440 @default.
• W2001337435 hasAuthorship W2001337435A5059324157 @default.
• W2001337435 hasAuthorship W2001337435A5079410680 @default.
• W2001337435 hasAuthorship W2001337435A5091072052 @default.
• W2001337435 hasBestOaLocation W20013374351 @default.
• W2001337435 hasConcept C104317684 @default.
• W2001337435 hasConcept C126322002 @default.
• W2001337435 hasConcept C134018914 @default.
• W2001337435 hasConcept C2777239931 @default.
• W2001337435 hasConcept C2778288131 @default.
• W2001337435 hasConcept C2779683239 @default.
• W2001337435 hasConcept C35158069 @default.
• W2001337435 hasConcept C526584372 @default.
• W2001337435 hasConcept C54355233 @default.
• W2001337435 hasConcept C71924100 @default.
• W2001337435 hasConcept C7602840 @default.
• W2001337435 hasConcept C86803240 @default.
• W2001337435 hasConceptScore W2001337435C104317684 @default.
• W2001337435 hasConceptScore W2001337435C126322002 @default.
• W2001337435 hasConceptScore W2001337435C134018914 @default.
• W2001337435 hasConceptScore W2001337435C2777239931 @default.
• W2001337435 hasConceptScore W2001337435C2778288131 @default.
• W2001337435 hasConceptScore W2001337435C2779683239 @default.
• W2001337435 hasConceptScore W2001337435C35158069 @default.
• W2001337435 hasConceptScore W2001337435C526584372 @default.
• W2001337435 hasConceptScore W2001337435C54355233 @default.
• W2001337435 hasConceptScore W2001337435C71924100 @default.
• W2001337435 hasConceptScore W2001337435C7602840 @default.
• W2001337435 hasConceptScore W2001337435C86803240 @default.
• W2001337435 hasIssue "4" @default.
• W2001337435 hasLocation W20013374351 @default.
• W2001337435 hasLocation W20013374352 @default.
• W2001337435 hasOpenAccess W2001337435 @default.
• W2001337435 hasPrimaryLocation W20013374351 @default.
• W2001337435 hasRelatedWork W1972841227 @default.
• W2001337435 hasRelatedWork W1982668233 @default.
• W2001337435 hasRelatedWork W1992345517 @default.
• W2001337435 hasRelatedWork W2008200038 @default.
• W2001337435 hasRelatedWork W2050483557 @default.
• W2001337435 hasRelatedWork W2082788710 @default.
• W2001337435 hasRelatedWork W2128505151 @default.

• next