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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
Whole genome amplicon sequencing and phylogenetic analysis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) from lineage B.1.36.27 isolated in Hong Kong.
Tsang HF, Yu ACS, Wong HT, Leung WMS, Chiou J, Wong YKE, Yim AKY, Tsang DNC, Tsang AK, Wong WT, Wong SCC, Cho WCS. Tsang HF, et al. Expert Rev Mol Diagn. 2022 Jan;22(1):119-124. doi: 10.1080/14737159.2022.2015330. Epub 2021 Dec 19. Expert Rev Mol Diagn. 2022. PMID: 34878349
RESULTS: Of the 14 SARS-CoV-2 genome sequences analyzed, 9 strains belonged to the PANGO lineage B.1.36.27, GISAID clade GH, and Nextclade clade 20A. Compared to the reference genome, 31 nucleotide differences and 11 amino acid differences were identified in the genome of …
RESULTS: Of the 14 SARS-CoV-2 genome sequences analyzed, 9 strains belonged to the PANGO lineage B.1.36.27, GISAID clade GH, and Nextclade c …
Down-regulation of traditional oncomiRs in plasma of breast cancer patients.
Jurkovicova D, Smolkova B, Magyerkova M, Sestakova Z, Kajabova VH, Kulcsar L, Zmetakova I, Kalinkova L, Krivulcik T, Karaba M, Benca J, Sedlackova T, Minarik G, Cierna Z, Danihel L, Mego M, Chovanec M, Fridrichova I. Jurkovicova D, et al. Oncotarget. 2017 Aug 24;8(44):77369-77384. doi: 10.18632/oncotarget.20484. eCollection 2017 Sep 29. Oncotarget. 2017. PMID: 29100393 Free PMC article.
We have quantified expression of seven oncomiRs, namely miR-17/92 cluster (miR-17, miR-18a, miR-19a and miR-20a), miR-21, miR-27a and miR-155, in plasma of 137 breast cancer (BC) patients. We detected down-regulation of six miRNAs in patients with invasive BC compared to c …
We have quantified expression of seven oncomiRs, namely miR-17/92 cluster (miR-17, miR-18a, miR-19a and miR-20a), miR-21, miR-27a and …
Circulating miR-1246 in the Progression of Chronic Obstructive Pulmonary Disease (COPD) in Patients from the BODE Cohort.
Cazorla-Rivero S, Mura-Escorche G, Gonzalvo-Hernández F, Mayato D, Córdoba-Lanús E, Casanova C. Cazorla-Rivero S, et al. Int J Chron Obstruct Pulmon Dis. 2020 Oct 29;15:2727-2737. doi: 10.2147/COPD.S271864. eCollection 2020. Int J Chron Obstruct Pulmon Dis. 2020. PMID: 33149570 Free PMC article.
A validation study was performed by qPCR in 20 patients with COPD (13 emphysema-diagnosed by CTscan) and 10 smoker controls at baseline and after 10 years follow-up. hsa-miRNA-20a-5p and hsa-let-7d-5p were used as endogenous controls. RESULTS: A total of 198 miRNAs (10TPM) …
A validation study was performed by qPCR in 20 patients with COPD (13 emphysema-diagnosed by CTscan) and 10 smoker controls at baseline and …