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Published papers

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy

L. Sinibaldi¹, G. Harifi², I. Bottillo^1,3, M. Iannicelli^1,3, S. El Hassani² F. Brancati^1,4, B. Dallapiccola^1,3

1 CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy;
2 Service de Rhumatologie, Centre Hospitalo-Universitaire Mohamed VI, Marrakech, Morocco;
3 Department of Experimental Medicine, Sapienza University Rome, Rome, Italy;
4 CeSI Aging Research Centre, Department of Biomedical Sciences, Gabriele d’Annunzio University,
Chieti, Italy

Matherials and methods

Peripheral blood samples of proband and parents were collected after obtaining an informed consent. Genomic DNA
was extracted according to standard procedures and HPGD exons were amplified in seven PCR fragments (Table
I). PCR amplifications were performed with 50 ng of genomic DNA in a 25 μL volume. Exon 1 was amplified in a
reaction containing 1X reaction buffer B, 200  μM dNTPs, 0.5  μM of each primer, 3% DMSO and 0.5 U KAPA2G Fast Hot Start DNA polymerase (Kapa Biosystems, Boston, Massachusetts, United States). Thermal cycler condi-
tions were 35 cycles of 95°C for 10 seconds, 59°C for 10 seconds, and 72°C for 2 seconds, preceeded by 1 minute at
95°C and followed by a final elongation step at 72°C for 30 seconds.

Note: This is just a brief summary of the whole paper. The full article is available here Clinical and Experimental Rheumatology 2010; 28: x-x.

This is a wonderful article describing Kapa Blood Direct, 2G Fast and Robust in comparison to competitor enzymes (IVT, Q, T and FZ)

Molecular Ecology Resources (2009) 9 (Suppl. 1), 35–41 © 2009 Blackwell Publishing Ltd, Blackwell Publishing Ltd

BARCODING METHODOLOGY AND APPLICATIONS

Express barcodes: racing from specimen to identification
NATALIA V. IVANOVA, ALEX V. BORISENKO and PAUL D. N. HEBERT
Canadian Centre for DNA Barcoding, Biodiversity Institute of Ontario, University of Guelph, 579 Gordon Street,
Guelph, ON, Canada N1G 2W1
Abstract
Although devices combining microfluidic and advanced sequencing technologies promise a future where one can generate a DNA barcode in minutes, current analytical regimes typically involve workflows that extend over 2 days. Here we describe simple protocols enabling the advance from a specimen to barcode-based identification in less than 2 h. The protocols use frozen or lyophilized reagents that can be prepackaged into ‘kits’ and support barcode analysis across the animal kingdom. The analytical procedure allows 5 min for DNA extraction, 25 min for polymerase chain reaction amplification of the barcode region, 25 min for cycle-sequencing, 10 min for cleanup, 45 min for capillary sequencing and 5 min for trace file analysis to complete DNA-based identification. This study involved the comparison of varied DNA preservation and extraction methods, and evaluated Taq polymerases with high processivity and resistance to inhibitors.

This is a reference for Kapa SYBR Fast

REGULATION OF CELL PROLIFERATION AND MIGRATION BY TAK1 VIA TRANSCRIPTIONAL CONTROL OF VON HIPPEL-LINDAU TUMOR SUPPRESSOR.

Siew Hwey, Tan^1,3, Mintu Pal^1,3, Ming Jie Tan^1,3, Marc Hai Liang, Wong¹, Fong U, Tam¹, Jamie Wei Ting Teo¹
, Han Chung Chong¹, Chek Kun Tan1, Yan Yih Goh¹, Mark Boon Yang Tang^2, Peter Ching For Cheung1and Nguan Soon Tan¹
 
1=School of Biological Sciences, Nanyang Technological University, 60, Nanyang Drive, Singapore 6375511
2=National Skin Centre, 1 Mandalay Road, Singapore 3082052
3=Authors contributed equally
Running head: TAK1 regulates cell proliferation and migration.
Address correspondence to: Nguan Soon Tan, Tel. (65) 63162941, Fax. (65) 67913856, Email: nstan@ntu.edu.sg.
 

JBC Papers in Press. Published on May 6, 2009 as Manuscript M109.002691

This article describes the use of Kapa HIFI

Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

Authors:  Yoko A. Ito¹, Tim K. Footz¹, Fred B. Berry¹, Farideh Mirzayans¹, May Yu¹, Arif O. Khan², and Michael A. Walter^1,3
1= Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada,
2 =Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
3=Department of Ophthalmology, University of Alberta, Edmonton, AB, Canada
 
Corresponding Author:    Michael A. Walter PhD, 839 Medical Sciences Building,
University of Alberta, Edmonton, AB, Canada, T6G 2H7, mwalter@ualberta.ca
 
Grant Information:  This work was funded by the Canadian Institutes of Health Research

IOVS Papers in Press. Published on March 11, 2009 as Manuscript iovs.08-303