FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2080496790> ?p ?o ?g. }

• W2080496790 endingPage "p36" @default.
• W2080496790 startingPage "p27" @default.
• W2080496790 abstract "<i>Background/Aims:</i> Dent disease is an X-linked renal proximal tubulopathy associated with mutations in<i> CLCN5</i> (Dent 1) or<i> OCRL1</i> (Dent 2). <i>OCRL1</i> mutations also cause the oculocerebrorenal syndrome of Lowe. <i>Methods:</i> Dent patients with normal sequence for <i>CLCN5</i> were sequenced for mutations in <i>OCRL1</i>. By analyzing these and all other <i>OCRL1</i> mutations reported, a model relating <i>OCRL1</i> mutations to the resulting disease (Dent 2 or Lowe’s) was developed. <i>Results:</i> Six boys with Dent disease had novel <i>OCRL1 </i>mutations: two missense (R301H, G304E) and four mutations predicted to produce premature termination codons (L56DfsX1, S149X, P161PfsX3, and M170IfsX1). These include one of the original patients reported by Dent and Friedman. Slit lamp examinations revealed early cataracts in only one boy with normal vision. None of these Dent 2 patients had metabolic acidosis; 3 had mild mental retardation. Analysis of all known <i>OCRL1</i> mutations show that Dent 2 mutations fall into two classes that do not overlap with Lowe mutations. Bioinformatics analyses identified expressed <i>OCRL1</i> splice variants that help explain the variability of those clinical features that distinguish Dent disease from Lowe syndrome. <i>Conclusions:</i><i>OCRL1</i> mutations can cause the renal phenotype of Dent disease, without acidosis or the dramatic eye abnormalities typical of Lowe syndrome. We propose a model to explain the phenotypic variability between Dent 2 and Lowe’s based on distinctly different classes of mutations in <i>OCRL1</i> producing splice variants." @default.
• W2080496790 created "2016-06-24" @default.
• W2080496790 creator A5002710138 @default.
• W2080496790 creator A5004066638 @default.
• W2080496790 creator A5006818641 @default.
• W2080496790 creator A5011411825 @default.
• W2080496790 creator A5015392783 @default.
• W2080496790 creator A5021793176 @default.
• W2080496790 creator A5022045828 @default.
• W2080496790 creator A5022998070 @default.
• W2080496790 creator A5031062920 @default.
• W2080496790 creator A5031179557 @default.
• W2080496790 creator A5056517213 @default.
• W2080496790 creator A5061340752 @default.
• W2080496790 creator A5075231985 @default.
• W2080496790 creator A5082965818 @default.
• W2080496790 creator A5088291237 @default.
• W2080496790 creator A5089821731 @default.
• W2080496790 date "2009-04-18" @default.
• W2080496790 modified "2023-10-15" @default.
• W2080496790 title "<i>OCRL1</i> Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability" @default.
• W2080496790 cites W143166852 @default.
• W2080496790 cites W1526745484 @default.
• W2080496790 cites W1536788210 @default.
• W2080496790 cites W1592962814 @default.
• W2080496790 cites W1965991219 @default.
• W2080496790 cites W1969844861 @default.
• W2080496790 cites W1973441651 @default.
• W2080496790 cites W1977107858 @default.
• W2080496790 cites W1995523951 @default.
• W2080496790 cites W2007134361 @default.
• W2080496790 cites W2007959128 @default.
• W2080496790 cites W2022275878 @default.
• W2080496790 cites W2026984176 @default.
• W2080496790 cites W2030958832 @default.
• W2080496790 cites W2041396416 @default.
• W2080496790 cites W2043299973 @default.
• W2080496790 cites W2045826819 @default.
• W2080496790 cites W2050298413 @default.
• W2080496790 cites W2051745690 @default.
• W2080496790 cites W2052354995 @default.
• W2080496790 cites W2052454481 @default.
• W2080496790 cites W2057306271 @default.
• W2080496790 cites W2063318299 @default.
• W2080496790 cites W2067013082 @default.
• W2080496790 cites W2075631488 @default.
• W2080496790 cites W2076006645 @default.
• W2080496790 cites W2076780928 @default.
• W2080496790 cites W2076831743 @default.
• W2080496790 cites W2083746909 @default.
• W2080496790 cites W2084526508 @default.
• W2080496790 cites W2085186575 @default.
• W2080496790 cites W2091701502 @default.
• W2080496790 cites W2092849118 @default.
• W2080496790 cites W2095907724 @default.
• W2080496790 cites W2098100103 @default.
• W2080496790 cites W2104521051 @default.
• W2080496790 cites W2111192516 @default.
• W2080496790 cites W2112612881 @default.
• W2080496790 cites W2121304949 @default.
• W2080496790 cites W2124376775 @default.
• W2080496790 cites W2127392024 @default.
• W2080496790 cites W2129114596 @default.
• W2080496790 cites W2135646318 @default.
• W2080496790 cites W2166610047 @default.
• W2080496790 cites W2166882617 @default.
• W2080496790 cites W2098502964 @default.
• W2080496790 doi "https://doi.org/10.1159/000213506" @default.
• W2080496790 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19390221" @default.
• W2080496790 hasPublicationYear "2009" @default.
• W2080496790 type Work @default.
• W2080496790 sameAs 2080496790 @default.
• W2080496790 citedByCount "77" @default.
• W2080496790 countsByYear W20804967902012 @default.
• W2080496790 countsByYear W20804967902013 @default.
• W2080496790 countsByYear W20804967902014 @default.
• W2080496790 countsByYear W20804967902015 @default.
• W2080496790 countsByYear W20804967902016 @default.
• W2080496790 countsByYear W20804967902017 @default.
• W2080496790 countsByYear W20804967902018 @default.
• W2080496790 countsByYear W20804967902019 @default.
• W2080496790 countsByYear W20804967902020 @default.
• W2080496790 countsByYear W20804967902021 @default.
• W2080496790 countsByYear W20804967902022 @default.
• W2080496790 countsByYear W20804967902023 @default.
• W2080496790 crossrefType "journal-article" @default.
• W2080496790 hasAuthorship W2080496790A5002710138 @default.
• W2080496790 hasAuthorship W2080496790A5004066638 @default.
• W2080496790 hasAuthorship W2080496790A5006818641 @default.
• W2080496790 hasAuthorship W2080496790A5011411825 @default.
• W2080496790 hasAuthorship W2080496790A5015392783 @default.
• W2080496790 hasAuthorship W2080496790A5021793176 @default.
• W2080496790 hasAuthorship W2080496790A5022045828 @default.
• W2080496790 hasAuthorship W2080496790A5022998070 @default.
• W2080496790 hasAuthorship W2080496790A5031062920 @default.
• W2080496790 hasAuthorship W2080496790A5031179557 @default.
• W2080496790 hasAuthorship W2080496790A5056517213 @default.
• W2080496790 hasAuthorship W2080496790A5061340752 @default.

• next