Matches in SemOpenAlex for { <https://semopenalex.org/work/W2116729065> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2116729065 endingPage "8" @default.
- W2116729065 startingPage "1" @default.
- W2116729065 abstract "Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in the CYP1B1 gene, a member of the cytochrome P450 gene family, have been reported in CG patients. The aim of this paper was to determine the genetic defects underlying CG in Italian patients. Methods: Molecular analysis of CYP1B1 was performed on the DNA of 120 patients and the transcript region of the MYOC/TIGR gene was also studied in all the patients bearing only one mutation in CYP1B1 gene. Previously described CYP1B1 polymorphisms (R48G, A119S, L432V, D449D and N453S) were also analyzed in our patients. Results: Seventeen different variations of CYP1B1 were found in 30 of the 120 (25.0%) CG patients. Twelve of these changes had been identified in previous reports as disease-causing mutations, while L26R, P52L, A106D, A237E and F440L are described here for the first time. F440L has always been found in cis with P52L, both in patients and healthy carriers, suggesting its role as a rare polymorphism linked to the P52L, while the other new variations we found could possibly play a pathogenetic role. G61E and 1775-1801dup27 are the most frequent mutations in our patients. Two amino acid variations (A447V and R76K) were identified in MYOC/TIGR analysis. Conclusions: Our results confirm the major role of the CYP1B1 gene in congenital glaucoma and also suggest an autosomal recessive role of MYOC/TIGR in a digenic inheritance model." @default.
- W2116729065 created "2016-06-24" @default.
- W2116729065 creator A5009920329 @default.
- W2116729065 date "2011-08-04" @default.
- W2116729065 modified "2023-10-16" @default.
- W2116729065 title "Molecular analysis of Italian patients with congenital glaucoma" @default.
- W2116729065 cites W1485123964 @default.
- W2116729065 cites W1488271316 @default.
- W2116729065 cites W1918014554 @default.
- W2116729065 cites W1951869808 @default.
- W2116729065 cites W1975957761 @default.
- W2116729065 cites W1980994085 @default.
- W2116729065 cites W2009479752 @default.
- W2116729065 cites W2029061535 @default.
- W2116729065 cites W2029731237 @default.
- W2116729065 cites W2046632616 @default.
- W2116729065 cites W2052528439 @default.
- W2116729065 cites W2059896584 @default.
- W2116729065 cites W2065589829 @default.
- W2116729065 cites W2078477574 @default.
- W2116729065 cites W2080030928 @default.
- W2116729065 cites W2087510669 @default.
- W2116729065 cites W2121772417 @default.
- W2116729065 cites W2124334570 @default.
- W2116729065 cites W2128128647 @default.
- W2116729065 cites W2128727932 @default.
- W2116729065 cites W2139998333 @default.
- W2116729065 cites W2140107851 @default.
- W2116729065 cites W2157008488 @default.
- W2116729065 doi "https://doi.org/10.3109/13816810.2011.596891" @default.
- W2116729065 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21815720" @default.
- W2116729065 hasPublicationYear "2011" @default.
- W2116729065 type Work @default.
- W2116729065 sameAs 2116729065 @default.
- W2116729065 citedByCount "3" @default.
- W2116729065 countsByYear W21167290652013 @default.
- W2116729065 countsByYear W21167290652018 @default.
- W2116729065 crossrefType "journal-article" @default.
- W2116729065 hasAuthorship W2116729065A5009920329 @default.
- W2116729065 hasBestOaLocation W21167290652 @default.
- W2116729065 hasConcept C104317684 @default.
- W2116729065 hasConcept C118487528 @default.
- W2116729065 hasConcept C126322002 @default.
- W2116729065 hasConcept C142724271 @default.
- W2116729065 hasConcept C155701950 @default.
- W2116729065 hasConcept C2778527774 @default.
- W2116729065 hasConcept C2780590625 @default.
- W2116729065 hasConcept C2781092963 @default.
- W2116729065 hasConcept C2781121420 @default.
- W2116729065 hasConcept C2781147369 @default.
- W2116729065 hasConcept C2994225774 @default.
- W2116729065 hasConcept C501734568 @default.
- W2116729065 hasConcept C526171541 @default.
- W2116729065 hasConcept C54355233 @default.
- W2116729065 hasConcept C62231903 @default.
- W2116729065 hasConcept C71924100 @default.
- W2116729065 hasConcept C86803240 @default.
- W2116729065 hasConceptScore W2116729065C104317684 @default.
- W2116729065 hasConceptScore W2116729065C118487528 @default.
- W2116729065 hasConceptScore W2116729065C126322002 @default.
- W2116729065 hasConceptScore W2116729065C142724271 @default.
- W2116729065 hasConceptScore W2116729065C155701950 @default.
- W2116729065 hasConceptScore W2116729065C2778527774 @default.
- W2116729065 hasConceptScore W2116729065C2780590625 @default.
- W2116729065 hasConceptScore W2116729065C2781092963 @default.
- W2116729065 hasConceptScore W2116729065C2781121420 @default.
- W2116729065 hasConceptScore W2116729065C2781147369 @default.
- W2116729065 hasConceptScore W2116729065C2994225774 @default.
- W2116729065 hasConceptScore W2116729065C501734568 @default.
- W2116729065 hasConceptScore W2116729065C526171541 @default.
- W2116729065 hasConceptScore W2116729065C54355233 @default.
- W2116729065 hasConceptScore W2116729065C62231903 @default.
- W2116729065 hasConceptScore W2116729065C71924100 @default.
- W2116729065 hasConceptScore W2116729065C86803240 @default.
- W2116729065 hasLocation W21167290651 @default.
- W2116729065 hasLocation W21167290652 @default.
- W2116729065 hasLocation W21167290653 @default.
- W2116729065 hasOpenAccess W2116729065 @default.
- W2116729065 hasPrimaryLocation W21167290651 @default.
- W2116729065 hasRelatedWork W1568574605 @default.
- W2116729065 hasRelatedWork W1948155206 @default.
- W2116729065 hasRelatedWork W199292570 @default.
- W2116729065 hasRelatedWork W2009775175 @default.
- W2116729065 hasRelatedWork W2017676671 @default.
- W2116729065 hasRelatedWork W2043736922 @default.
- W2116729065 hasRelatedWork W2080422288 @default.
- W2116729065 hasRelatedWork W2158105529 @default.
- W2116729065 hasRelatedWork W2160783087 @default.
- W2116729065 hasRelatedWork W3137570873 @default.
- W2116729065 isParatext "false" @default.
- W2116729065 isRetracted "false" @default.
- W2116729065 magId "2116729065" @default.
- W2116729065 workType "article" @default.