S. Shackleton

发表

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.

R. Trembath, C. Vigouroux, P. Valensi, 2000, Diabetes.

RAC1 induces nuclear alterations through the LINC complex to enhance melanoma invasiveness

P. Crespo, X. Bustelo, B. Casar, 2020, Molecular biology of the cell.

Lamin A-linked progerias: is farnesylation the be all and end all?

S. Shackleton, D. Smallwood, 2010, Biochemical Society transactions.

Mammalian SUN Protein Interaction Networks at the Inner Nuclear Membrane and Their Role in Laminopathy Disease Processes*

Juliet A. Ellis, C. Shanahan, D. Mazzeo, 2009, The Journal of Biological Chemistry.

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

A. K. Agarwal, R. Trembath, P. Clayton, 2005, Journal of Medical Genetics.

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization

G. Gundersen, H. Worman, G. Lattanzi, 2014, PLoS genetics.

Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.

A. Harris, J. Hull, S. Shackleton, 1993, Human molecular genetics.

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus

Mervyn G. Thomas, I. Gottlob, B. Goult, 2013, Human molecular genetics.

The Nuclear Envelope

Philippe Collas, Eric C. Schirmer, E. C. Schirmer, 2016, Methods in Molecular Biology.

Essential role of the Cdk2 activator RingoA in meiotic telomere tethering to the nuclear envelope

A. Nebreda, Yoshinori Watanabe, J. Suja, 2016, Nature Communications.

SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton

R. Trembath, A. Fry, C. Shanahan, 2006, Molecular and Cellular Biology.

Role of Two Dileucine-like Motifs in Insulin Receptor Anchoring to Microvilli*

M. Foti, J. Carpentier, I. Hamer, 2002, The Journal of Biological Chemistry.

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

R. Trembath, S. Shackleton, D. Lloyd, 2002, Human molecular genetics.

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

S. Gregory, S. O’Rahilly, R. Trembath, 2000, Nature Genetics.

Mitotic phosphorylation of SUN1 loosens its connection with the nuclear lamina while the LINC complex remains intact

A. Fry, A. Bottrill, S. Prosser, 2014, Nucleus.

MicroRNA expression profiling in patients with lamin A/C‐associated muscular dystrophy

Timothy W Gant, Gisèle Bonne, T. Gant, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

The stop mutation R553X in the CFTR gene results in exon skipping.

A. Harris, J. Hull, S. Shackleton, 1994, Genomics.

[5]Mutation detection in the cystic fibrosis transmembrane conductance regulator gene

A. Harris, J. Hull, S. Shackleton, 1996 .

Identification of rare and novel mutations in the CFTR genes of CF patients in Southern England

A. Seller, A. Harris, J. Hull, 1994, Human mutation.

Hutchinson–Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature

J I Harper, D. Smallwood, J. Mazereeuw-Hautier, 2007, The British journal of dermatology.

Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis

Glenn E. Morris, Ziyuan Lin, Huaqin Sun, 2017, Human molecular genetics.

Recent advances in pericentriolar material organization: ordered layers and scaffolding gels

A. Fry, S. Shackleton, Josephina Sampson, 2017, F1000Research.

The Role of FRMD7 in Idiopathic Infantile Nystagmus

Mervyn G. Thomas, I. Gottlob, C. Talbot, 2011, Journal of ophthalmology.

Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells

Yin Loon Lee, F. Nédélec, K. Mamchaoui, 2017, Current Biology.

GS22 *THE PROVISION OF A DEDICATED ACUTE GENERAL SURGICAL UNIT IMPROVES THE MANAGEMENT OF PATIENTS WITH ACUTE GALL BLADDER DISEASE

C. O'Neill, V. Wills, S. Shackleton, 2009 .

Nuclear envelope disease and chromatin organization.

Juliet A. Ellis, J. A. Ellis, S. Shackleton, 2011, Biochemical Society transactions.

Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.

A. Harris, J. Hull, S. Shackleton, 1994, Human Molecular Genetics.

Nesprin-1 (cid:11) -Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells

Yin Loon Lee, K. Mamchaoui, B. Burke, 2020 .

Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.

A. Harris, S. Shackleton, F. Beards, 1992, Human molecular genetics.

A 2‐amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene

A. Harris, S. Shackleton, 1998, Human mutation.