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An update on geneti...
An update on genetic variants of the NKX2-5
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- Kolomenski, Jorge E. (author)
- Univ Buenos Aires, IQUIBICEN CONICET, Fac Ciencias Exactas & Nat, Dept Quim Biol, Buenos Aires, DF, Argentina.;Univ Buenos Aires, Inst Biociencias Biotecnol & Biol Traslac, Fac Ciencias Exactas & Nat, Dept Fisiol Biol Mol & Celular,iB3, Buenos Aires, DF, Argentina.
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- Delea, Marisol (author)
- Ctr Nacl Genet Med, ANLIS, Buenos Aires, DF, Argentina.
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- Simonetti, Leandro (author)
- Uppsala universitet,Biokemi
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- Fabbro, Monica C. (author)
- Lab Novagen, Buenos Aires, DF, Argentina.
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- Espeche, Lucia D. (author)
- Ctr Nacl Genet Med, ANLIS, Buenos Aires, DF, Argentina.
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- Taboas, Melisa (author)
- Ctr Nacl Genet Med, ANLIS, Buenos Aires, DF, Argentina.
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- Nadra, Alejandro D. (author)
- Univ Buenos Aires, IQUIBICEN CONICET, Fac Ciencias Exactas & Nat, Dept Quim Biol, Buenos Aires, DF, Argentina.;Univ Buenos Aires, Inst Biociencias Biotecnol & Biol Traslac, Fac Ciencias Exactas & Nat, Dept Fisiol Biol Mol & Celular,iB3, Buenos Aires, DF, Argentina.
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- Bruque, Carlos D. (author)
- Ctr Nacl Genet Med, ANLIS, Buenos Aires, DF, Argentina.;IBYME CONICET, Inst Biol & Med Expt, Buenos Aires, DF, Argentina.
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- Dain, Liliana (author)
- Univ Buenos Aires, Inst Biociencias Biotecnol & Biol Traslac, Fac Ciencias Exactas & Nat, Dept Fisiol Biol Mol & Celular,iB3, Buenos Aires, DF, Argentina.;Ctr Nacl Genet Med, ANLIS, Buenos Aires, DF, Argentina.;IBYME CONICET, Inst Biol & Med Expt, Buenos Aires, DF, Argentina.
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Univ Buenos Aires, IQUIBICEN CONICET, Fac Ciencias Exactas & Nat, Dept Quim Biol, Buenos Aires, DF, Argentina;Univ Buenos Aires, Inst Biociencias Biotecnol & Biol Traslac, Fac Ciencias Exactas & Nat, Dept Fisiol Biol Mol & Celular,iB3, Buenos Aires, DF, Argentina. Ctr Nacl Genet Med, ANLIS, Buenos Aires, DF, Argentina. (creator_code:org_t)
- 2020-05-22
- 2020
- English.
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In: Human Mutation. - : WILEY. - 1059-7794 .- 1098-1004. ; 41:7, s. 1187-1208
- Related links:
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https://ri.conicet.g...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- NKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In this study, we carried out a comprehensive survey of NKX2-5 GVs to build a unified, curated, and updated compilation of all available GVs. We retrieved a total of 1,380 unique GVs. From these, 970 had information on their frequency in the general population and 143 have been linked to pathogenic phenotypes in humans. In vitro effect was ascertained for 38 GVs. The homeodomain had the biggest cluster of pathogenic variants in the protein: 49 GVs in 60 residues, 23 in its third alpha-helix, where 11 missense variants may affect protein-DNA interaction or the hydrophobic core. We also pinpointed the likely location of pathogenic GVs in four linear motifs. These analyses allowed us to assign a putative explanation for the effect of 90 GVs. This study pointed to reliable pathogenicity for GVs in helix 3 of the homeodomain and may broaden the scope of functional and structural studies that can be done to better understand the effect of GVs in NKX2-5 function.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- associated phenotypes
- curated database
- genetic variant evaluation
- linear motif
- NKX2-5
Publication and Content Type
- ref (subject category)
- art (subject category)
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