FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2621100586> ?p ?o ?g. }

• W2621100586 abstract "Abstract Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis. Tonsillar herniation, foramen magnum stenosis, and severe osteomyelitis of the jaw were common clinical features. Whole exome sequencing, verified by Sanger sequencing, identified a splice site mutation c.212 + 1 G > T in the SNX10 gene encoding sorting nexin 10. Sequence analysis of the SNX10 transcript in patients revealed activation of a cryptic splice site in intron 4 resulting in a frame shift and a premature stop (p.S66Nfs * 15). Haplotype analysis showed that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years. Functional analysis of osteoclast progenitors isolated from peripheral blood of patients revealed that stimulation with receptor activator of nuclear factor kappa-B ligand ( RANKL ) resulted in a robust formation of large, multinucleated osteoclasts which generated sealing zones; however these osteoclasts exhibited defective ruffled borders and were unable to resorb bone in vitro ." @default.
• W2621100586 created "2017-06-09" @default.
• W2621100586 creator A5001382014 @default.
• W2621100586 creator A5002051685 @default.
• W2621100586 creator A5004795332 @default.
• W2621100586 creator A5012116326 @default.
• W2621100586 creator A5019689323 @default.
• W2621100586 creator A5023296720 @default.
• W2621100586 creator A5028905334 @default.
• W2621100586 creator A5030052721 @default.
• W2621100586 creator A5036544220 @default.
• W2621100586 creator A5048857760 @default.
• W2621100586 creator A5056404126 @default.
• W2621100586 creator A5067378114 @default.
• W2621100586 creator A5076310015 @default.
• W2621100586 creator A5080820625 @default.
• W2621100586 creator A5088555276 @default.
• W2621100586 creator A5088805426 @default.
• W2621100586 date "2017-06-07" @default.
• W2621100586 modified "2023-10-16" @default.
• W2621100586 title "SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts" @default.
• W2621100586 cites W1485982200 @default.
• W2621100586 cites W1596477039 @default.
• W2621100586 cites W1599281136 @default.
• W2621100586 cites W1963701171 @default.
• W2621100586 cites W1964739634 @default.
• W2621100586 cites W1967971491 @default.
• W2621100586 cites W1970341718 @default.
• W2621100586 cites W1973809951 @default.
• W2621100586 cites W1976078361 @default.
• W2621100586 cites W1999220301 @default.
• W2621100586 cites W2006582030 @default.
• W2621100586 cites W2006837089 @default.
• W2621100586 cites W2012286200 @default.
• W2621100586 cites W2012555015 @default.
• W2621100586 cites W2012991152 @default.
• W2621100586 cites W2025845516 @default.
• W2621100586 cites W2029802208 @default.
• W2621100586 cites W2041455826 @default.
• W2621100586 cites W2048941080 @default.
• W2621100586 cites W2049078441 @default.
• W2621100586 cites W2066063401 @default.
• W2621100586 cites W2066220904 @default.
• W2621100586 cites W2073748451 @default.
• W2621100586 cites W2073917725 @default.
• W2621100586 cites W2074455041 @default.
• W2621100586 cites W2078983385 @default.
• W2621100586 cites W2079141799 @default.
• W2621100586 cites W2081597000 @default.
• W2621100586 cites W2086579860 @default.
• W2621100586 cites W2092837998 @default.
• W2621100586 cites W2098528749 @default.
• W2621100586 cites W2098574849 @default.
• W2621100586 cites W2100454832 @default.
• W2621100586 cites W2104549677 @default.
• W2621100586 cites W2104742449 @default.
• W2621100586 cites W2107746520 @default.
• W2621100586 cites W2110780544 @default.
• W2621100586 cites W2111239144 @default.
• W2621100586 cites W2114776307 @default.
• W2621100586 cites W2128289981 @default.
• W2621100586 cites W2137876599 @default.
• W2621100586 cites W2138737838 @default.
• W2621100586 cites W2140013667 @default.
• W2621100586 cites W2141575609 @default.
• W2621100586 cites W2143563671 @default.
• W2621100586 cites W2149870803 @default.
• W2621100586 cites W2156799672 @default.
• W2621100586 cites W2188755422 @default.
• W2621100586 cites W2296037901 @default.
• W2621100586 cites W2413050916 @default.
• W2621100586 cites W5648841 @default.
• W2621100586 doi "https://doi.org/10.1038/s41598-017-02533-2" @default.
• W2621100586 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5462793" @default.
• W2621100586 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28592808" @default.
• W2621100586 hasPublicationYear "2017" @default.
• W2621100586 type Work @default.
• W2621100586 sameAs 2621100586 @default.
• W2621100586 citedByCount "40" @default.
• W2621100586 countsByYear W26211005862017 @default.
• W2621100586 countsByYear W26211005862018 @default.
• W2621100586 countsByYear W26211005862019 @default.
• W2621100586 countsByYear W26211005862020 @default.
• W2621100586 countsByYear W26211005862021 @default.
• W2621100586 countsByYear W26211005862022 @default.
• W2621100586 countsByYear W26211005862023 @default.
• W2621100586 crossrefType "journal-article" @default.
• W2621100586 hasAuthorship W2621100586A5001382014 @default.
• W2621100586 hasAuthorship W2621100586A5002051685 @default.
• W2621100586 hasAuthorship W2621100586A5004795332 @default.
• W2621100586 hasAuthorship W2621100586A5012116326 @default.
• W2621100586 hasAuthorship W2621100586A5019689323 @default.
• W2621100586 hasAuthorship W2621100586A5023296720 @default.
• W2621100586 hasAuthorship W2621100586A5028905334 @default.
• W2621100586 hasAuthorship W2621100586A5030052721 @default.
• W2621100586 hasAuthorship W2621100586A5036544220 @default.
• W2621100586 hasAuthorship W2621100586A5048857760 @default.
• W2621100586 hasAuthorship W2621100586A5056404126 @default.
• W2621100586 hasAuthorship W2621100586A5067378114 @default.
• W2621100586 hasAuthorship W2621100586A5076310015 @default.

• next