Chromosomal fragile site FRA16D and DNA instability in cancer.

Marie Mangelsdorf, Karin Ried, Erica Woollatt, +8

PubMed

ChromatinGenome InstabilitySpecific Chromosomal BreakageGenetic DisorderNatural Sciences +12

Microfibril-associated Glycoprotein-1 (MAGP-1) Binds to the Pepsin-resistant Domain of the α3(VI) Chain of Type VI Collagen

Merran Finnis, Mark A. Gibson

Journal of Biological Chemistry

Microfibril-associated Glycoprotein-2 (MAGP-2) Is Specifically Associated with Fibrillin-containing Microfibrils but Exhibits More Restricted Patterns of Tissue Localization and Developmental Expression Than Its Structural Relative MAGP-1

Mark A. Gibson, Merran Finnis, Jaliya Kumaratilake, +1

Journal of Histochemistry & Cytochemistry

Common chromosomal fragile site FRA16D mutation in cancer cells

Merran Finnis, Sonia Dayan, Lynne Hobson, +7

Human Molecular Genetics

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Theologia Sarafidou, Christina Kahl, Isabel Martínez‐Garay, +17

Genomics

ChromatinGenome InstabilityNovel GeneGenetic DisorderGenetics +9

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

Olivia L. D. McKenzie, Ilaria Ponte, Marie Mangelsdorf, +6

Neuroscience

Aristaless-related Homeobox GeneGenetic DisorderGeneticsWest SyndromeGene Expression +9

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

Tod Fullston, Louise Brueton, Tracey Willis, +5

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +6

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Monica L Stepp, A Lauren Cason, Merran Finnis, +8

BMC Medical Genetics

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

Tod Fullston, Merran Finnis, Anna Hackett, +7

Clinical Genetics

Developmental expression of dermatan sulfate proteoglycans in the elastic bovine nuchal ligament

Betty Reinboth, Merran Finnis, Mark A. Gibson, +2

Matrix Biology

Tissue EngineeringMechanobiologyDermatan Sulfate ProteoglycansMusculoskeletal ResearchDevelopmental Biology +10