FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895615920> ?p ?o ?g. }

• W2895615920 abstract "Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is mainly diagnosed in childhood, the adult manifestation is often missed or identified late due to the failure to recognize the heterogeneous clinical presentation. The present study includes seven unrelated Indian adult patients (age range: 20-40 years) having splenomegaly, with or without hepatomegaly, cytopenia and bone abnormality.The biochemical investigation implicated measuring plasma chitotriosidase enzyme activity followed by confirmatory test of β-Glucosidase enzyme activity from the leukocytes. The molecular characterization involved patients' initial screening for the common Gaucher mutation (Leu444Pro). Later, all patients were subjected to whole GBA gene coding region study using bidirectional Sanger sequencing. The population screening for common Gaucher disease mutation (Leu444Pro) was executed in 1200 unrelated and healthy Indian subjects by Restriction Fragment Length Polymorphism-Polymerase Chain Reaction technique. The allele frequency was calculated using Hardy-Weinberg formula.The biochemical analysis revealed a significant reduction in the β-Glucosidase activity in all the patients. Also, an elevated level of plasma Chitotriosidase activity in five patients supported their diagnosis of Gaucher disease. Sanger sequencing established four patients with homozygous variation and three patients with compound heterozygous variation in GBA gene. This study uncovers two missense variants (Ala448Thr and Val17Gly) not previously reported in Gaucher disease patients. Also the known mutations like Leu444Pro, Arg329Cys, Asp315Asn, Ser125Arg, and Arg395Cys were identified in these patients. The homology modeling suggested the destabilization of the protein structure due to novel variants. The Leu444Pro mutation screening in the Indian population spotted two people as a carrier. This emerged the carrier frequency of 1:600 along with wild-type allele frequency 0.97113 and mutant allele frequency 0.02887.The study reports novel and known variants identified in the GBA gene in seven adult patients. The given study is the first report on the carrier frequency of the Leu444Pro mutant allele in an Indian population which will help understanding the burden and susceptibility of Gaucher disease to affect next generation in India." @default.
• W2895615920 created "2018-10-12" @default.
• W2895615920 creator A5005522975 @default.
• W2895615920 creator A5015575038 @default.
• W2895615920 creator A5017068824 @default.
• W2895615920 creator A5024304547 @default.
• W2895615920 creator A5026168744 @default.
• W2895615920 creator A5030437206 @default.
• W2895615920 creator A5073808136 @default.
• W2895615920 creator A5076205071 @default.
• W2895615920 creator A5090032239 @default.
• W2895615920 date "2018-10-01" @default.
• W2895615920 modified "2023-10-14" @default.
• W2895615920 title "Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India" @default.
• W2895615920 cites W1607228965 @default.
• W2895615920 cites W1825944839 @default.
• W2895615920 cites W1900339045 @default.
• W2895615920 cites W1969535459 @default.
• W2895615920 cites W1992253341 @default.
• W2895615920 cites W2000597290 @default.
• W2895615920 cites W2007348345 @default.
• W2895615920 cites W2007500485 @default.
• W2895615920 cites W2014747001 @default.
• W2895615920 cites W2026523048 @default.
• W2895615920 cites W2039093171 @default.
• W2895615920 cites W2042737005 @default.
• W2895615920 cites W2047817353 @default.
• W2895615920 cites W2053520092 @default.
• W2895615920 cites W2060664745 @default.
• W2895615920 cites W2073175490 @default.
• W2895615920 cites W2077816161 @default.
• W2895615920 cites W2084043947 @default.
• W2895615920 cites W2097080902 @default.
• W2895615920 cites W2102600653 @default.
• W2895615920 cites W2118094114 @default.
• W2895615920 cites W2120342768 @default.
• W2895615920 cites W2137300912 @default.
• W2895615920 cites W2144456776 @default.
• W2895615920 cites W2161236662 @default.
• W2895615920 cites W2163130181 @default.
• W2895615920 cites W2170281382 @default.
• W2895615920 cites W2256654918 @default.
• W2895615920 cites W2294810223 @default.
• W2895615920 cites W2584621370 @default.
• W2895615920 cites W2588291989 @default.
• W2895615920 cites W2756097082 @default.
• W2895615920 cites W2806303426 @default.
• W2895615920 cites W2992763909 @default.
• W2895615920 cites W4237346361 @default.
• W2895615920 cites W4242631850 @default.
• W2895615920 cites W5275200 @default.
• W2895615920 doi "https://doi.org/10.1186/s12881-018-0687-5" @default.
• W2895615920 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6167838" @default.
• W2895615920 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30285649" @default.
• W2895615920 hasPublicationYear "2018" @default.
• W2895615920 type Work @default.
• W2895615920 sameAs 2895615920 @default.
• W2895615920 citedByCount "13" @default.
• W2895615920 countsByYear W28956159202018 @default.
• W2895615920 countsByYear W28956159202019 @default.
• W2895615920 countsByYear W28956159202020 @default.
• W2895615920 countsByYear W28956159202021 @default.
• W2895615920 countsByYear W28956159202022 @default.
• W2895615920 countsByYear W28956159202023 @default.
• W2895615920 crossrefType "journal-article" @default.
• W2895615920 hasAuthorship W2895615920A5005522975 @default.
• W2895615920 hasAuthorship W2895615920A5015575038 @default.
• W2895615920 hasAuthorship W2895615920A5017068824 @default.
• W2895615920 hasAuthorship W2895615920A5024304547 @default.
• W2895615920 hasAuthorship W2895615920A5026168744 @default.
• W2895615920 hasAuthorship W2895615920A5030437206 @default.
• W2895615920 hasAuthorship W2895615920A5073808136 @default.
• W2895615920 hasAuthorship W2895615920A5076205071 @default.
• W2895615920 hasAuthorship W2895615920A5090032239 @default.
• W2895615920 hasBestOaLocation W28956159201 @default.
• W2895615920 hasConcept C104317684 @default.
• W2895615920 hasConcept C126322002 @default.
• W2895615920 hasConcept C135763542 @default.
• W2895615920 hasConcept C180754005 @default.
• W2895615920 hasConcept C2779134260 @default.
• W2895615920 hasConcept C2779440204 @default.
• W2895615920 hasConcept C2779969927 @default.
• W2895615920 hasConcept C2779994418 @default.
• W2895615920 hasConcept C2780674200 @default.
• W2895615920 hasConcept C37463918 @default.
• W2895615920 hasConcept C501734568 @default.
• W2895615920 hasConcept C54355233 @default.
• W2895615920 hasConcept C71924100 @default.
• W2895615920 hasConcept C75563809 @default.
• W2895615920 hasConcept C76818968 @default.
• W2895615920 hasConcept C86803240 @default.
• W2895615920 hasConcept C90924648 @default.
• W2895615920 hasConceptScore W2895615920C104317684 @default.
• W2895615920 hasConceptScore W2895615920C126322002 @default.
• W2895615920 hasConceptScore W2895615920C135763542 @default.
• W2895615920 hasConceptScore W2895615920C180754005 @default.
• W2895615920 hasConceptScore W2895615920C2779134260 @default.
• W2895615920 hasConceptScore W2895615920C2779440204 @default.
• W2895615920 hasConceptScore W2895615920C2779969927 @default.
• W2895615920 hasConceptScore W2895615920C2779994418 @default.

• next