The human gamma-glutamyltransferase gene family

N Heisterkamp, J Groffen, D Warburton, TP Sneddon - Human genetics, 2008 - Springer
Assays for gamma-glutamyl transferase (GGT1, EC 2.3.2.2) activity in blood are widely used
in a clinical setting to measure tissue damage. The well-characterized GGT1 is an …

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

…, MC Hogan, S Rossetti, D Walker, T Sneddon… - Nature …, 2002 - nature.com
… c, Genomic sequencing showing that the mutation is an A→T transversion at the −2
position of IVS35 (underlined). d, Examples of aberrant DHPLC profiles found by screening of …

Electrical characteristics of flash sintering: thermal runaway of Joule heating

…, E Zapata-Solvas, RS Bonilla, T Sneddon… - Journal of the European …, 2015 - Elsevier
Flash sintering occurs when an electric field is applied to a heated ceramic powder compact.
At a critical combination of field and temperature, a power surge occurs (the “flash event”) …

[PDF][PDF] Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource

…, J Goldstein, R Ghosh, BA Seifert, TP Sneddon… - The American Journal of …, 2017 - cell.com
With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

The HGNC Database in 2008: a resource for the human genome

…, MJ Lush, MW Wright, TP Sneddon… - Nucleic acids …, 2007 - academic.oup.com
The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique and ideally
meaningful name and symbol to every human gene. The HGNC database currently comprises …

The HUGO gene nomenclature database, 2006 updates

TA Eyre, F Ducluzeau, TP Sneddon… - Nucleic acids …, 2006 - academic.oup.com
The HUGO Gene Nomenclature Committee (HGNC) aims to give every human gene a
unique and ideally meaningful name and symbol. The HGNC database, previously known as …

[HTML][HTML] Long-read genome sequencing identifies causal structural variation in a Mendelian disease

JD Merker, AM Wenger, T Sneddon, M Grove… - Genetics in …, 2018 - nature.com
Purpose Current clinical genomics assays primarily utilize short-read sequencing (SRS),
but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read …

β-Catenin is temporally regulated during normal liver development

A Micsenyi, X Tan, T Sneddon, JH Luo… - Gastroenterology, 2004 - Elsevier
… This causes dephosphorylation of β-catenin and an increase in its free cytosolic levels.13,
14, 15, 16, 17 It undergoes nuclear translocation, where it binds to the T-cell factor family of …

Wnt impacts growth and differentiation in ex vivo liver development

SZ Hussain, T Sneddon, X Tan, A Micsenyi… - Experimental cell …, 2004 - Elsevier
The Wnt–β-catenin pathway plays a role in liver growth and development. Here, we investigate
the direct effect of Wnt-3A on ex vivo liver development. Livers from mouse embryos at …

DNA sequence and analysis of human chromosome 8

…, M Schilhabel, R Siddiqui, CL Smith, TP Sneddon… - Nature, 2006 - nature.com
The International Human Genome Sequencing Consortium (IHGSC) recently completed a
sequence of the human genome 1 . As part of this project, we have focused on chromosome 8…