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Data analysis and dissemination

Publication Title Author Journal Year Issue Pages PUBMED

Functional analysis of a novel ENU-induced PHD finger 11 (Phf11) mouse mutant

Y. Zhang; C. Dean; L. Chessum; D. Nguyen; M. Stewart; M. Taylor; W.O. Cookson; M.F. Moffatt Mamm Genome 2014 25 573-82 PUBMED

Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice

N. Warr; P. Siggers; G.A. Carre; D. Bogani; R. Brixey; M. Akiyoshi; M. Tachibana; L. Teboul; S. Wells; J. Sanderson; A. Greenfield Human Molecular Genetics 2014 23 3035-3044 PUBMED

Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features

V. Tucci; T. Kleefstra; A. Hardy; I. Heise; S. Maggi; M.H. Willemsen; H. Hilton; C. Esapa; M. Simon; M.T. Buenavista; L.J. McGuffin; L. Vizor; L. Dodero; S. Tsaftaris; R. Romero; W.N. Nillesen; L.E.L.M. Vissers; M.J. Kempers; A.T. Vulto-van Silfhout; Z. Iqbal; M. Orlando; A. Maccione; G. Lassi; P. Farisello; A. Constestabile; F. Tinarelli; T. Nieus; A. Raimondi; B. Greco; D. Cantatore; L. Gasparini; L. Berdondini; A. Bifone; A. Gozzi; S. Wells; P.M. Nolan Journal of Clinical Investigation 2014 124 1468-82 PUBMED

Non-syndromic hereditary sensorineural hearing loss: review of the genes involved

F. Stelma; M.F. Bhutta Journal of Laryngology and Otology 2014 128 13-21 PUBMED

A novel mouse Fgfr2 mutant, hobbyhorse (hob), exhibits complete XY gonadal sex reversal

P. Siggers; G. Carre; D. Bogani; N. Warr; S. Wells; H. Hilton; C. Esapa; M. Hajihosseini; A. Greenfield PLoS One 2014 e100447 PUBMED

On the evolutionary origins of obesity: a new hypothesis

D. Sellayah; F.R. Cagampang; R.D. Cox Endocrinology 2014 155 1573-88 PUBMED

Histopathological analysis of the respiratory tract

C.L. Scudamore; E.F. McInnes Curr Protoc Mouse Biol 2014 4 181-96 PUBMED

A simplified necropsy technique for mice: making the most of unscheduled deaths

C.L. Scudamore; N. Busk; K. Vowell Laboratory Animals 2014 48 342-344 PUBMED

Integrating pathology into human disease modelling - how to eat the elephant

C.L. Scudamore Disease Models & Mechanisms 2014 7 495-497 PUBMED

Acquiring, recording and analyzing pathology data from experimental mice: an overview

C.L. Scudamore Current Protocols in Mouse Biology 2014 4 1-10 PUBMED

TPC1 has two variant isoforms, and their removal has different effects on endo-lysosomal functions compared to loss of TPC2

M. Ruas; K.T. Chuang; L.C. Davis; A. Al-Douri; P.W. Tynan; R. Tunn; L. Teboul; A. Galione; J. Parrington Mol Cell Biol 2014 34 3981-92 PUBMED

Assessing the quality of modelled 3D protein structures using the ModFOLD server

D.B. Roche; M.T. Buenavista; L.J. McGuffin Methods in Molecular Biology 2014 1137 83-103 PUBMED

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

T. Ricketts; P. McGoldrick; P. Fratta; H.M. Oliveira; R. Kent; V. Phatek; S. Brandner; G. Blanco; L. Greensmith; A. Acevedo-Arozena; E.M.C. Fisher PLoS One 2014 9 PUBMED

Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development

S.A. Ramsbottom; V. Sharma; H.J. Rhee; L. Eley; H.M. Phillips; H.F. Rigby; C. Dean; B. Chaudhry; D.J. Henderson PLoS Genet 2014 10 e1004871 PUBMED

Distinct developmental profile of lower-body adipose tissue defines resistance against obesity-associated metabolic complications

K.E. Pinnick; G. Nicholson; K.N. Manolopoulos; S.E. McQuaid; P. Valet; K.N. Frayn; N. Denton; J.L. Min; K.T. Zondervan; J. Fleckner; M.I. McCarthy; C.C. Holmes; F. Karpe Diabetes 2014 63 3785-97 PUBMED

The role of genomic imprinting in biology and disease: an expanding view

J. Peters Nature Reviews Genetics 2014 15 517-530 PUBMED

Polymorphisms in the circadian expressed genes PER3 and ARNTL2 are associated with diurnal preference and GNbeta3 with sleep measures

M.J. Parsons; K.J. Lester; N.L. Barclay; S.N. Archer; P.M. Nolan; T.C. Eley; A.M. Gregory Journal of Sleep Research 2014 23 595-604 PUBMED

Planar cell polarity and the kidney

E. Papakrivopoulou; C.H. Dean; A.J. Copp; D.A. Long Nephrology Dialysis Transplantation 2014 29 1320-1326 PUBMED

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies

D.P.S. Osborn; R.M. Roccasecca; F. McMurray; V. Hernandez-Hernandez; S. Mukherjee; I. Barroso; D. Stemple; R. Cox; P.L. Beales; S. Christou-Savina PLoS One 2014 9 PUBMED

The actin-binding proteins Eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells

J. Olt; P. Mburu; S.L. Johnson; A. Parker; S. Kuhn; M. Bowl; W. Marcotti; S.D.M. Brown PLoS One 2014 9 PUBMED