FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2133492435> ?p ?o ?g. }

• W2133492435 endingPage "34" @default.
• W2133492435 startingPage "24" @default.
• W2133492435 abstract "Laron syndrome is an autosomal recessive condition characterized by resistance to growth hormone. We sought to determine the molecular basis of this condition in an Ecuadorean population with a high incidence of affected individuals. Growth hormone receptor gene sequences from an obligate heterozygote were amplified by the polymerase chain reaction and screened for mutations using denaturing gradient gel electrophoresis. Only exon 6 revealed homo- and heteroduplexes on denaturing gradient gels. Sequencing revealed a substitution of guanine for adenine in the third position of codon 180 that did not change the amino acid encoded. Sequencing of the exon 6-exon 7 splice junction from RNA-polymerase chain reaction amplified cellular RNA of an affected individual revealed that the substitution activates a 5' splice site 24 nucleotides upstream from the normal exon 6-intron 6 boundary. Splicing in two probands' lymphoblasts occurred virtually exclusively at the abnormal 5' splice site created by the codon 180 substitution. Exon 6 sequences from 38 patients and 47 relatives were amplified and analyzed by sequencing or dot-blot hybridization with allele-specific oligonucleotides. The substitution was detected in 74 of 76 Laron syndrome patients' GH-receptor alleles. All 26 parents and 12 of 21 unaffected siblings were heterozygous for this mutation. It was absent in 61 unrelated unaffected control individuals. We conclude that the codon 180 nucleotide substitution probably causes Laron syndrome as translation of the observed, abnormally spliced growth hormone receptor transcript would lead to the synthesis of a receptor protein with an 8 amino acid deletion from the extracellular domain." @default.
• W2133492435 created "2016-06-24" @default.
• W2133492435 creator A5001402556 @default.
• W2133492435 creator A5008553204 @default.
• W2133492435 creator A5030783394 @default.
• W2133492435 creator A5068432689 @default.
• W2133492435 creator A5084408887 @default.
• W2133492435 date "1992-01-01" @default.
• W2133492435 modified "2023-10-15" @default.
• W2133492435 title "Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome" @default.
• W2133492435 cites W1486144458 @default.
• W2133492435 cites W1512997946 @default.
• W2133492435 cites W1576596365 @default.
• W2133492435 cites W1599952788 @default.
• W2133492435 cites W1771001171 @default.
• W2133492435 cites W1964404605 @default.
• W2133492435 cites W1965051773 @default.
• W2133492435 cites W1970750109 @default.
• W2133492435 cites W1972978651 @default.
• W2133492435 cites W1979147523 @default.
• W2133492435 cites W1983323920 @default.
• W2133492435 cites W1986384675 @default.
• W2133492435 cites W1988790598 @default.
• W2133492435 cites W1991088558 @default.
• W2133492435 cites W2001658339 @default.
• W2133492435 cites W2004293123 @default.
• W2133492435 cites W2012256960 @default.
• W2133492435 cites W2014669590 @default.
• W2133492435 cites W2027919656 @default.
• W2133492435 cites W2050853712 @default.
• W2133492435 cites W2052996645 @default.
• W2133492435 cites W2053808640 @default.
• W2133492435 cites W2064350570 @default.
• W2133492435 cites W2078932870 @default.
• W2133492435 cites W2081891422 @default.
• W2133492435 cites W2086557308 @default.
• W2133492435 cites W2089728262 @default.
• W2133492435 cites W2092318152 @default.
• W2133492435 cites W2103170384 @default.
• W2133492435 cites W2110799834 @default.
• W2133492435 cites W2120056767 @default.
• W2133492435 cites W2127356536 @default.
• W2133492435 cites W2134468240 @default.
• W2133492435 cites W2158823568 @default.
• W2133492435 cites W2162390538 @default.
• W2133492435 cites W2172032243 @default.
• W2133492435 cites W2314174921 @default.
• W2133492435 cites W2317602332 @default.
• W2133492435 cites W2400821406 @default.
• W2133492435 cites W2407120400 @default.
• W2133492435 cites W4248096216 @default.
• W2133492435 doi "https://doi.org/10.1002/humu.1380010105" @default.
• W2133492435 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1284474" @default.
• W2133492435 hasPublicationYear "1992" @default.
• W2133492435 type Work @default.
• W2133492435 sameAs 2133492435 @default.
• W2133492435 citedByCount "126" @default.
• W2133492435 countsByYear W21334924352012 @default.
• W2133492435 countsByYear W21334924352013 @default.
• W2133492435 countsByYear W21334924352014 @default.
• W2133492435 countsByYear W21334924352015 @default.
• W2133492435 countsByYear W21334924352016 @default.
• W2133492435 countsByYear W21334924352017 @default.
• W2133492435 countsByYear W21334924352018 @default.
• W2133492435 countsByYear W21334924352019 @default.
• W2133492435 countsByYear W21334924352020 @default.
• W2133492435 countsByYear W21334924352021 @default.
• W2133492435 countsByYear W21334924352023 @default.
• W2133492435 crossrefType "journal-article" @default.
• W2133492435 hasAuthorship W2133492435A5001402556 @default.
• W2133492435 hasAuthorship W2133492435A5008553204 @default.
• W2133492435 hasAuthorship W2133492435A5030783394 @default.
• W2133492435 hasAuthorship W2133492435A5068432689 @default.
• W2133492435 hasAuthorship W2133492435A5084408887 @default.
• W2133492435 hasConcept C104317684 @default.
• W2133492435 hasConcept C153911025 @default.
• W2133492435 hasConcept C194583182 @default.
• W2133492435 hasConcept C36823959 @default.
• W2133492435 hasConcept C501734568 @default.
• W2133492435 hasConcept C54355233 @default.
• W2133492435 hasConcept C54458228 @default.
• W2133492435 hasConcept C62257209 @default.
• W2133492435 hasConcept C67705224 @default.
• W2133492435 hasConcept C86803240 @default.
• W2133492435 hasConceptScore W2133492435C104317684 @default.
• W2133492435 hasConceptScore W2133492435C153911025 @default.
• W2133492435 hasConceptScore W2133492435C194583182 @default.
• W2133492435 hasConceptScore W2133492435C36823959 @default.
• W2133492435 hasConceptScore W2133492435C501734568 @default.
• W2133492435 hasConceptScore W2133492435C54355233 @default.
• W2133492435 hasConceptScore W2133492435C54458228 @default.
• W2133492435 hasConceptScore W2133492435C62257209 @default.
• W2133492435 hasConceptScore W2133492435C67705224 @default.
• W2133492435 hasConceptScore W2133492435C86803240 @default.
• W2133492435 hasIssue "1" @default.
• W2133492435 hasLocation W21334924351 @default.
• W2133492435 hasLocation W21334924352 @default.
• W2133492435 hasOpenAccess W2133492435 @default.

• next