R. Haines

发表

btn1 Affects Endocytosis, Polarization of Sterol-Rich Membrane Domains and Polarized Growth in Schizosaccharomyces pombe

Sandra Codlin, S. Mole, R. Haines, 2008, Traffic.

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

A. Pagnamenta, Jenny C. Taylor, A. Fry, 2021, Journal of Medical Genetics.

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Sandra Codlin, D. Cutler, S. Mole, 2007, Human molecular genetics.

Filaggrin null mutations are not a protective factor for acne vulgaris.

M. Tang, E. Lane, J. Common, 2011, The Journal of investigative dermatology.

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3

Sandra Codlin, S. Mole, R. Haines, 2009, Disease Models & Mechanisms.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH

Sandra Codlin, S. Mole, R. Haines, 2008, Journal of Cell Science.

Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.

R. Mortishire-Smith, J. Griffin, Sandra Codlin, 2010, Molecular bioSystems.

Wide spectrum of filaggrin‐null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

M. Tang, J. Common, H. Cordell, 2011, The British journal of dermatology.

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

A. Tay, X. F. C. C. Wong, M. Tang, 2017, bioRxiv.

FXR-Mediated Cortical Cholesterol Accumulation Contributes to the Pathogenesis of Type A Hepatic Encephalopathy

A. Petrescu, Matthew McMillin, S. DeMorrow, 2018, Cellular and molecular gastroenterology and hepatology.

Keratins and disease at a glance

E. Lane, R. Haines, Rebecca L. Haines, 2012, Journal of Cell Science.

Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study

F. Lai, G. Mariscalco, N. Shannon, 2022, Journal of the American Heart Association.