Search Results

You are looking at 1 - 10 of 13 items for :

Clear All
Open access

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

and hypolipoproteinemia type IIb ( 2 ). Long time after the initial description of TAS, two groups independently described AAAS (achalasia-addisonianism-alacrimia syndrome) gene as the causative gene for this syndrome, in years 2000 and 2001

Open access

Julie Smith, Jan Fahrenkrug, Henrik L Jørgensen, Christina Christoffersen and Jens P Goetze

-CoA-dehydrogenase (LCAD), glucose transporter 4 (GLUT4), and diacylglycerol acetyltransferase (DGAT) – are described previously (18, 19) . The following mouse specific primer sequences genes were used: NPR-A: 5′-agt acg cca aca acc tgg ag, 3′-aag agc tgt aaa gcc cac ga

Open access

Julia Modesto Vicente, Junia Carolina Santos-Silva, Caio Jordão Teixeira, Dailson Nogueira de Souza, Jean Franciesco Vettorazzi, Fabiola Sales Furtuoso, Isabel Gouveia Adabo, Fabio Takeo Sato, Marco Aurélio Ramirez Vinolo, Everardo Magalhães Carneiro, Silvana Bordin and Gabriel Forato Anhê

from mice subjected to a history of pregnancy with or without lactation. Other parameters such as intracellular calcium dynamics and the expression of genes that are pivotal for pancreatic islets physiology have also been evaluated. Materials and

Open access

Bingbing Wang, Mayra Cruz Ithier, Nataliya Parobchak, Stacy M Yadava, Jay Schulkin and Todd Rosen

been proposed is that vitamin D might inhibit CRH gene expression in placenta tissue and thereby decrease the vulnerability for prematurity in childbirth ( 10 , 11 ). Indeed, Mohamed and colleagues have suggested that vitamin D and CRH might be

Open access

Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye

Introduction The CYP21A2 gene encodes the enzyme steroid 21-hydroxylase (21OH), which is essential for steroid synthesis in the adrenal cortex. Mutations in CYP21A2 are the main cause of the autosomal recessive disorder congenital adrenal

Open access

Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

(NGS) approach, we screened 23 PDTC for variants in 48 cancer-relevant genes. The main goal addressed in this exploratory study was to characterise novel genetic changes as potential targets for further research as well as establishing the NGS technique

Open access

Esben Thyssen Vestergaard, Morten B Krag, Morten M Poulsen, Steen B Pedersen, Niels Moller, Jens Otto Lunde Jorgensen and Niels Jessen

inspection of the two rRNAs, 18S and 28S , on an agarose gel. cDNA was synthesized with the Verso cDNA kit AB 1453 (Thermo Fisher Scientific, Inc.) using random hexamers. Real-time PCR for target gene was done with β2-microglobulin levels as internal

Open access

K E Lines, R P Vas Nunes, M Frost, C J Yates, M Stevenson and R V Thakker

pituitary (1) . MEN1 is caused by heterozygous germline mutations of the MEN1 gene, and tumours developed by MEN1 patients show loss of the remaining normal copy of the MEN1 gene, a ‘second-hit’, demonstrating the tumour suppressor function of its

Open access

Wioletta Pijacka, Morag G Hunter, Fiona Broughton Pipkin and Martin R Luck

housekeeping gene. RT-PCR was performed using Taq DNA Polymerase with Standard Taq Buffer (New England BioLabs, Hitchin, Herts, UK) in an iCycler thermocycler (Bio-Rad) according to the manufacturer's specifications. Primers for PCR amplification of the bovine

Open access

Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj K Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bharani, Surendra Kumar Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswamy Srinivasan, Sarita Agarwal and Eesh Bhatia

Introduction Autoimmune polyendocrine syndrome type 1 (APS1) is a rare and potentially life-threatening genetic disorder resulting from homozygous or compound heterozygous mutations in the autoimmune regulator ( AIRE ) gene (OMIM phenotype