FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3169756039> ?p ?o ?g. }

• W3169756039 abstract "Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and other STAT3 variants from the general population. Strikingly, all 15 out-of-frame variants were DN via their encoded (1) truncated proteins, (2) neoproteins generated from a translation reinitiation codon, and (3) isoforms from alternative transcripts or a combination thereof. Moreover, 128 of the 135 in-frame variants (95%) were also DN. The patients carrying the seven non-DN STAT3 in-frame variants have not been studied for other genetic etiologies. Finally, none of the variants from the general population tested, including an out-of-frame variant, were DN. Overall, our findings show that heterozygous STAT3 variants, whether in or out of frame, underlie AD-HIES through negative dominance rather than haploinsufficiency." @default.
• W3169756039 created "2021-06-22" @default.
• W3169756039 creator A5001908821 @default.
• W3169756039 creator A5012450709 @default.
• W3169756039 creator A5014165602 @default.
• W3169756039 creator A5017276606 @default.
• W3169756039 creator A5017456051 @default.
• W3169756039 creator A5022077206 @default.
• W3169756039 creator A5024087517 @default.
• W3169756039 creator A5026924923 @default.
• W3169756039 creator A5029360035 @default.
• W3169756039 creator A5029840355 @default.
• W3169756039 creator A5032640973 @default.
• W3169756039 creator A5040771042 @default.
• W3169756039 creator A5049190836 @default.
• W3169756039 creator A5050125943 @default.
• W3169756039 creator A5051109238 @default.
• W3169756039 creator A5052441498 @default.
• W3169756039 creator A5053544653 @default.
• W3169756039 creator A5054926443 @default.
• W3169756039 creator A5058449340 @default.
• W3169756039 creator A5058987519 @default.
• W3169756039 creator A5060691242 @default.
• W3169756039 creator A5062601012 @default.
• W3169756039 creator A5063790935 @default.
• W3169756039 creator A5063947535 @default.
• W3169756039 creator A5064711465 @default.
• W3169756039 creator A5066288502 @default.
• W3169756039 creator A5069720425 @default.
• W3169756039 creator A5076721574 @default.
• W3169756039 creator A5077182207 @default.
• W3169756039 creator A5077913296 @default.
• W3169756039 creator A5082873209 @default.
• W3169756039 creator A5083070243 @default.
• W3169756039 creator A5085235753 @default.
• W3169756039 creator A5088101636 @default.
• W3169756039 creator A5089266146 @default.
• W3169756039 creator A5090497008 @default.
• W3169756039 date "2021-06-17" @default.
• W3169756039 modified "2023-10-18" @default.
• W3169756039 title "Human<i>STAT3</i>variants underlie autosomal dominant hyper-IgE syndrome by negative dominance" @default.
• W3169756039 cites W1588637297 @default.
• W3169756039 cites W190863891 @default.
• W3169756039 cites W1925054293 @default.
• W3169756039 cites W1931748660 @default.
• W3169756039 cites W1965548419 @default.
• W3169756039 cites W1965668934 @default.
• W3169756039 cites W1974362422 @default.
• W3169756039 cites W1974917081 @default.
• W3169756039 cites W1975269358 @default.
• W3169756039 cites W1985293164 @default.
• W3169756039 cites W1987507232 @default.
• W3169756039 cites W1989638707 @default.
• W3169756039 cites W1991643613 @default.
• W3169756039 cites W1995614807 @default.
• W3169756039 cites W1995928670 @default.
• W3169756039 cites W1995990842 @default.
• W3169756039 cites W2002687277 @default.
• W3169756039 cites W2013003453 @default.
• W3169756039 cites W2014596538 @default.
• W3169756039 cites W2017716833 @default.
• W3169756039 cites W2021341670 @default.
• W3169756039 cites W2023034745 @default.
• W3169756039 cites W2024405748 @default.
• W3169756039 cites W2030726748 @default.
• W3169756039 cites W2033757793 @default.
• W3169756039 cites W2035656344 @default.
• W3169756039 cites W2039448094 @default.
• W3169756039 cites W2041168245 @default.
• W3169756039 cites W2041985900 @default.
• W3169756039 cites W2048065354 @default.
• W3169756039 cites W2050152285 @default.
• W3169756039 cites W2051018333 @default.
• W3169756039 cites W2053401301 @default.
• W3169756039 cites W2053567093 @default.
• W3169756039 cites W2056663587 @default.
• W3169756039 cites W2057051315 @default.
• W3169756039 cites W2057877742 @default.
• W3169756039 cites W2059145105 @default.
• W3169756039 cites W2059594227 @default.
• W3169756039 cites W2060924363 @default.
• W3169756039 cites W2061014664 @default.
• W3169756039 cites W2061466699 @default.
• W3169756039 cites W2066806053 @default.
• W3169756039 cites W2083650649 @default.
• W3169756039 cites W2087756955 @default.
• W3169756039 cites W2090459727 @default.
• W3169756039 cites W2102821093 @default.
• W3169756039 cites W2104497596 @default.
• W3169756039 cites W2108234281 @default.
• W3169756039 cites W2109025977 @default.
• W3169756039 cites W2111326065 @default.
• W3169756039 cites W2115779634 @default.
• W3169756039 cites W2117131162 @default.
• W3169756039 cites W2119108690 @default.
• W3169756039 cites W2119180969 @default.
• W3169756039 cites W2121702910 @default.
• W3169756039 cites W2128774331 @default.
• W3169756039 cites W2134526812 @default.
• W3169756039 cites W2137176031 @default.

• next