John Bateman

Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis

Kathryn M Yammine, Sophia Mirda Abularach, Lisa Sampurno, John F Bateman, Shireen R Lamande, Matthew D Shoulders

Journal article  |  2023  |  STEM CELL RESEARCH

The human iPSC line MCRIi019-A-6 was generated using CRISPR/Cas9-mediated gene editing to introduce a heterozygous COL2A1 exon 33 ..

The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 ( /p.G610C)) mice

Martha Blank, Narelle E McGregor, Lynn Rowley, Louise HW Kung, Blessing Crimeen-Irwin, Ingrid J Poulton, Emma C Walker, Jonathan H Gooi, Shireen R Lamande, Natalie A Sims, John F Bateman

Journal article  |  2022  |  JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

The inherited brittle bone disease osteogenesis imperfecta (OI) is commonly caused by COL1A1 and COL1A2 mutations that disrupt the..

Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology

John F Bateman, Matthew D Shoulders, Shireen R Lamande

Journal article  |  2022  |  CONNECTIVE TISSUE RESEARCH

Mutations in collagen genes cause a broad range of connective tissue pathologies. Structural mutations that impact procollagen ass..

Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing

Jinia Lilianty, John F Bateman, Shireen R Lamande

Journal article  |  2021  |  STEM CELL RESEARCH

The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce..

Circadian time series proteomics reveals daily dynamics in cartilage physiology

M Dudek, C Angelucci, D Pathiranage, P Wang, V Mallikarjun, C Lawless, J Swift, KE Kadler, RP Boot-Handford, JA Hoyland, SR Lamande, JF Bateman, Q-J Meng

Journal article  |  2021  |  OSTEOARTHRITIS AND CARTILAGE

OBJECTIVE: Cartilage in joints such as the hip and knee experiences repeated phases of heavy loading and low load recovery during ..

Generation of a miR-26b stem-loop knockout human iPSC line, MCRIi019-A-1, using CRISPR/Cas9 editing

Louise HW Kung, Lisa Sampurno, Christopher B Little, Shireen R Lamande, John F Bateman

Journal article  |  2021  |  STEM CELL RESEARCH

miR-26b has been implicated in a wide range of human diseases, including cancer, diabetes, heart disease, Alzheimer's disease and ..

Identification of the skeletal progenitor cells forming osteophytes in osteoarthritis

Anke J Roelofs, Karolina Kania, Alexandra J Rafipay, Meike Sambale, Stephanie T Kuwahara, Fraser L Collins, Joanna Smeeton, Maxwell A Serowoky, Lynn Rowley, Hui Wang, Rene Gronewold, Chrysa Kapeni, Simon Mendez-Ferrer, Christopher B Little, John F Bateman, Thomas Pap, Francesca Mariani, Joanna Sherwood, J Gage Crump, Cosimo De Bari

Journal article  |  2020  |  ANNALS OF THE RHEUMATIC DISEASES

OBJECTIVES: Osteophytes are highly prevalent in osteoarthritis (OA) and are associated with pain and functional disability. These ..

CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A

Louise HW Kung, Lisa Sampurno, Kathryn M Yammine, Alison Graham, Penny McDonald, John F Bateman, Matthew D Shoulders, Shireen R Lamande

Journal article  |  2020  |  STEM CELL RESEARCH

To develop an in vitro disease model of a human chondrodysplasia, we used CRISPR/Cas9 gene editing to generate a heterozygous COL2..

CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L)

Yudha Nur Patria, Tayla Stenta, Jinia Lilianty, Lynn Rowley, Edouard G Stanley, Andrew G Elefanty, John F Bateman, Shireen R Lamande

Journal article  |  2020  |  STEM CELL RESEARCH

To produce in vitro models of human chondrodysplasias caused by dominant missense mutations in TRPV4, we used CRISPR/Cas9 gene edi..

Genetic Disorders of the Extracellular Matrix

Shireen R Lamande, John F Bateman

Journal article  |  2020  |  ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY

Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throug..