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Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell and Helen L Storr

failure ( 1 , 2 ). Monogenic defects of the GH-IGF1 axis leading to GHI have been identified in the GHR ( 3 ), STAT5B ( 4 ), IGFALS ( 5 ), PAPPA2 ( 6 ) and IGF1 ( 7 ) genes. Splicing is the process by which introns are precisely identified and

Open access

R A M Quax, J A M van Laar, R van Heerebeek, K Greiner, E Ben-Chetrit, M Stanford, G R Wallace, F Fortune, M Ghabra, M Soylu, J M W Hazes, S W J Lamberts, J H Kappen, P M van Hagen, J W Koper and R A Feelders

RA, PBMCs were less sensitive to dexamethasone in vitro (14) . Finally, an increased expression of the GR splice variant GR-β, the dominant negative inhibitor of the biologically active GR-α, is associated with GC resistance in several inflammatory

Open access

R Solomon-Zemler, L Basel-Vanagaite, D Steier, S Yakar, E Mel, M Phillip, L Bazak, D Bercovich, H Werner and L de Vries

reverse primers (available upon request to the authors) flanking all 21 coding and splicing exons regions. Detection was done by Sanger sequencing, loaded on an ABI 16 capillary apparatus ( 23 ). Cell cultures and treatments The skin fibroblasts

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Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah

patients (4.7%). Common mutations included frameshift ( n  = 19), nonsense ( n  = 19), missense ( n  = 15), and splice-site ( n  = 8) mutations. Additionally, an indel mutation and mutations in the intronic region, regulatory element and 5′ UTR were found

Open access

A Daniel Bird, Spencer Greatorex, David Reser, Gareth G Lavery and Timothy J Cole

library transcripts indicates the use of two alternate ATG start sites in exons 2 and 3, and alternative RNA splicing in exon 9. HSD11B1L has also been referred to as SCDR10B, and an SDR enzyme family member, and showed that it was highly expressed in the

Open access

Emma Jernberg, Anders Bergh and Pernilla Wikström

rise to alternative splicing of those two variants ( 69 ). Without previous knowledge of this tandem site, recent studies performed to specifically quantify or knock-down the AR-V7 transcript may have been targeting the AR-V9 in parallel. The AR

Open access

D A Dart, K Ashelford and W G Jiang

addition to all these processes, prostate cancer cells have been shown to produce AR splice variants – truncated versions of the AR with missing ligand activation domain which remain constitutively active for example, truncated version known as ARv7 ( 7

Open access

Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås and Per M Thorsby

concentrations of 21DF. In these patients, the mutations were in group Null and A including del/I2 splice, I2 splice/I2 splice and del/del. Figure 3 Passing–Bablok regression of 21-deoxycortisol (21DF) (Y) and 17-hydroxyprogesterone (17OHP) (X) with LC

Open access

Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

://gnomad.broadinstitute.org/ ) and ABraOM ( http://abraom.ib.usp.br/ ), located in exonic regions and consensus splice site sequences. Next, our variant filtration prioritized genes based on their potential to be pathogenic: loss-of-function (LoF) variants and variants predicted to

Open access

Anna-Pauliina Iivonen, Johanna Känsäkoski, Atte Karppinen, Leena Kivipelto, Camilla Schalin-Jäntti, Auli Karhu and Taneli Raivio

://gnomad.broadinstitute.org/ ) ( 14 ). This database contains WGS and exome data from 138,632 individuals including 12,897 Finnish samples. Effects of the identified variants on transcripts were predicted with Human Splicing Finder ( http://www.umd.be/HSF3/ ) ( 15 ) and