FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3028121614> ?p ?o ?g. }

• W3028121614 endingPage "102444" @default.
• W3028121614 startingPage "102444" @default.
• W3028121614 abstract "Five main genes are associated with hemochromatosis; however, current studies show that, in addition to these genes, others may be associated with primary iron overload (IO). One of these is the bone morphogenetic protein 6 (BMP6), which encodes a protein that modulates hepcidin synthesis and, consequently, iron homeostasis. To identify BMP6 gene pathogenic variants in patients with IO and non-homozygous genotype for the HFE p.Cys282Tyr mutation. Fifty-three patients with primary IO and non-homozygous genotype for the HFE p.Cys282Tyr were selected. Subsequent bidirectional DNA sequencing of BMP6 exons was performed. Two novel variants were found. One at homozygous state p.Gln158Ter (c.472C>T) was pathogenic, the other one at heterozygous state p.Val394Met (c.1180G>A) was of uncertain significance (VUS); the third variant at heterozygous state p.Arg257His (c.770G>A) has already been described and associated with IO. No BMP6 pathogenic variants that would explain iron overload phenotypes were detected in 94% of the studied patients. Identification of the BMP6 pathogenic variants in Brazilian patients with primary IO might contribute to the genetic understanding of this phenotype." @default.
• W3028121614 created "2020-05-29" @default.
• W3028121614 creator A5008660733 @default.
• W3028121614 creator A5027096752 @default.
• W3028121614 creator A5032342360 @default.
• W3028121614 creator A5033668012 @default.
• W3028121614 creator A5039098349 @default.
• W3028121614 creator A5043058266 @default.
• W3028121614 creator A5068479561 @default.
• W3028121614 creator A5070822528 @default.
• W3028121614 creator A5079124231 @default.
• W3028121614 creator A5089027620 @default.
• W3028121614 date "2020-09-01" @default.
• W3028121614 modified "2023-09-30" @default.
• W3028121614 title "Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation" @default.
• W3028121614 cites W1526845901 @default.
• W3028121614 cites W1561678499 @default.
• W3028121614 cites W1977767277 @default.
• W3028121614 cites W1989496700 @default.
• W3028121614 cites W2009988274 @default.
• W3028121614 cites W2010285535 @default.
• W3028121614 cites W2049917711 @default.
• W3028121614 cites W2051978340 @default.
• W3028121614 cites W2079268771 @default.
• W3028121614 cites W2082237640 @default.
• W3028121614 cites W2096039532 @default.
• W3028121614 cites W2107032226 @default.
• W3028121614 cites W2110861347 @default.
• W3028121614 cites W2146741372 @default.
• W3028121614 cites W2180094123 @default.
• W3028121614 cites W2181020319 @default.
• W3028121614 cites W2205185043 @default.
• W3028121614 cites W2331118891 @default.
• W3028121614 cites W2485312021 @default.
• W3028121614 cites W2557067290 @default.
• W3028121614 cites W2587204086 @default.
• W3028121614 cites W2598939742 @default.
• W3028121614 cites W2806184899 @default.
• W3028121614 cites W4232013301 @default.
• W3028121614 doi "https://doi.org/10.1016/j.bcmd.2020.102444" @default.
• W3028121614 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32464486" @default.
• W3028121614 hasPublicationYear "2020" @default.
• W3028121614 type Work @default.
• W3028121614 sameAs 3028121614 @default.
• W3028121614 citedByCount "6" @default.
• W3028121614 countsByYear W30281216142021 @default.
• W3028121614 countsByYear W30281216142022 @default.
• W3028121614 crossrefType "journal-article" @default.
• W3028121614 hasAuthorship W3028121614A5008660733 @default.
• W3028121614 hasAuthorship W3028121614A5027096752 @default.
• W3028121614 hasAuthorship W3028121614A5032342360 @default.
• W3028121614 hasAuthorship W3028121614A5033668012 @default.
• W3028121614 hasAuthorship W3028121614A5039098349 @default.
• W3028121614 hasAuthorship W3028121614A5043058266 @default.
• W3028121614 hasAuthorship W3028121614A5068479561 @default.
• W3028121614 hasAuthorship W3028121614A5070822528 @default.
• W3028121614 hasAuthorship W3028121614A5079124231 @default.
• W3028121614 hasAuthorship W3028121614A5089027620 @default.
• W3028121614 hasBestOaLocation W30281216142 @default.
• W3028121614 hasConcept C104317684 @default.
• W3028121614 hasConcept C125349252 @default.
• W3028121614 hasConcept C127716648 @default.
• W3028121614 hasConcept C135763542 @default.
• W3028121614 hasConcept C181628713 @default.
• W3028121614 hasConcept C203014093 @default.
• W3028121614 hasConcept C2776590208 @default.
• W3028121614 hasConcept C2776768029 @default.
• W3028121614 hasConcept C2776914184 @default.
• W3028121614 hasConcept C3018783601 @default.
• W3028121614 hasConcept C31507581 @default.
• W3028121614 hasConcept C36823959 @default.
• W3028121614 hasConcept C501734568 @default.
• W3028121614 hasConcept C54355233 @default.
• W3028121614 hasConcept C86803240 @default.
• W3028121614 hasConceptScore W3028121614C104317684 @default.
• W3028121614 hasConceptScore W3028121614C125349252 @default.
• W3028121614 hasConceptScore W3028121614C127716648 @default.
• W3028121614 hasConceptScore W3028121614C135763542 @default.
• W3028121614 hasConceptScore W3028121614C181628713 @default.
• W3028121614 hasConceptScore W3028121614C203014093 @default.
• W3028121614 hasConceptScore W3028121614C2776590208 @default.
• W3028121614 hasConceptScore W3028121614C2776768029 @default.
• W3028121614 hasConceptScore W3028121614C2776914184 @default.
• W3028121614 hasConceptScore W3028121614C3018783601 @default.
• W3028121614 hasConceptScore W3028121614C31507581 @default.
• W3028121614 hasConceptScore W3028121614C36823959 @default.
• W3028121614 hasConceptScore W3028121614C501734568 @default.
• W3028121614 hasConceptScore W3028121614C54355233 @default.
• W3028121614 hasConceptScore W3028121614C86803240 @default.
• W3028121614 hasFunder F4320320997 @default.
• W3028121614 hasLocation W30281216141 @default.
• W3028121614 hasLocation W30281216142 @default.
• W3028121614 hasLocation W30281216143 @default.
• W3028121614 hasOpenAccess W3028121614 @default.
• W3028121614 hasPrimaryLocation W30281216141 @default.
• W3028121614 hasRelatedWork W1980332665 @default.
• W3028121614 hasRelatedWork W1990987251 @default.
• W3028121614 hasRelatedWork W2001033823 @default.

• next