Animal models of human disease: zebrafish swim into view

GJ Lieschke, PD Currie - Nature Reviews Genetics, 2007 - nature.com
Despite the pre-eminence of the mouse in modelling human disease, several aspects of
murine biology limit its routine use in large-scale genetic and therapeutic screening. Many …

ENU mutagenesis, a way forward to understand gene function

A Acevedo-Arozena, S Wells, P Potter… - … Rev. Genomics Hum …, 2008 - annualreviews.org
Arguably, the main challenge for contemporary genetics is to understand the function of
every gene in a mammalian genome. The mouse has emerged as a model for this task …

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

JZ Liu, MA Almarri, DJ Gaffney, GF Mells, L Jostins… - Nature …, 2012 - nature.com
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium
and 8,514 UK population controls across 196,524 variants within 186 known autoimmune …

DNA repair is limiting for haematopoietic stem cells during ageing

A Nijnik, L Woodbine, C Marchetti, S Dawson, T Lambe… - Nature, 2007 - nature.com
Accumulation of DNA damage leading to adult stem cell exhaustion has been proposed to
be a principal mechanism of ageing. Here we address this question by taking advantage of …

[HTML][HTML] A Mouse Model for the Metabolic Effects of the Human Fat Mass and Obesity Associated FTO Gene

C Church, S Lee, EAL Bagg, JS McTaggart… - PLoS …, 2009 - journals.plos.org
Human FTO gene variants are associated with body mass index and type 2 diabetes.
Because the obesity-associated SNPs are intronic, it is unclear whether changes in FTO …

[HTML][HTML] AKATP Channel-Dependent Pathway within α Cells Regulates Glucagon Release from Both Rodent and Human Islets of Langerhans

PE MacDonald, YZD Marinis, R Ramracheya… - PLoS …, 2007 - journals.plos.org
Glucagon, secreted from pancreatic islet α cells, stimulates gluconeogenesis and liver
glycogen breakdown. The mechanism regulating glucagon release is debated, and …

Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders

JM Joslin, AA Fernald, TR Tennant… - Blood, The Journal …, 2007 - ashpublications.org
Loss of a whole chromosome 5 or a deletion of the long arm, del (5q), is a recurring
abnormality in myelodysplastic syndromes (MDSs) and acute myeloid leukemia (AML). To …

Murine models of vascular thrombosis

RJ Westrick, ME Winn, DT Eitzman - … , thrombosis, and vascular …, 2007 - Am Heart Assoc
Thrombotic complications of vascular disease are the leading cause of morbidity and
mortality in most industrialized countries. Despite this, safe and effective drugs targeting …

Generation of gene knockouts and mutant models in the laboratory rat by ENU-driven target-selected mutagenesis

BMG Smits, JB Mudde, J van de Belt… - Pharmacogenetics …, 2006 - journals.lww.com
Objective The rat is one of the most important model organisms for biomedical and
pharmacological research. However, the generation of novel models for studying specific …

[HTML][HTML] A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

H Ashrafian, L Docherty, V Leo, C Towlson… - Plos …, 2010 - journals.plos.org
Mutations in a number of genes have been linked to inherited dilated cardiomyopathy
(DCM). However, such mutations account for only a small proportion of the clinical cases …