Shireen Lamande

Modulating the Mechanical Activation of TRPV4 at the Cell-Substrate Interface

Setareh Sianati, Lioba Schroeter, Jessica Richardson, Andy Tay, Shireen R Lamande, Kate Poole

Journal article  |  2021  |  Frontiers in Bioengineering and Biotechnology

Ion channels activated by mechanical inputs are important force sensing molecules in a wide array of mammalian cells and tissues. ..

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 Lamandé

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..

Collagen VI alpha 2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNF alpha signaling

Hai T Pham, Vardit Kram, Qurratul-Ain Dar, Taishi Komori, Youngmi Ji, Payam Mohassel, Jachinta Rooney, Li Li, Tina M Kilts, Carsten Bonnemann, Shireen Lamande, Marian F Young

Journal article  |  2020  |  Scientific Reports

Type VI collagen is well known for its role in muscular disorders, however its function in bone is still not well understood. To e..

Genetic Disorders of the Extracellular Matrix

Shireen R Lamande, John F Bateman

Journal article  |  2020  |  Anatomical Record

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

Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing

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

Journal article  |  2020  |  Stem Cell Research

To produce an in vitro model of the human chondrodysplasia, spondyloepiphyseal dysplasia congenita, we used CRISPR/Cas9 gene editi..

Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response

Chantal A Coles, Lavinia Gordon, Liam C Hunt, Tracie Webster, Adam T Piers, Christopher Kintakas, Keryn Woodman, Su L Touslon, Gayle M Smythe, Jason D White, Shireen R Lamande

Journal article  |  2020  |  Human Molecular Genetics

Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disorder caused by mutations in the DMD gene that leads to the absenc..

Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing

Yudha Nur Patria, Jinia Lilianty, Andrew G Elefanty, Edouard G Stanley, Tanya Labonne, John F Bateman, Shireen R Lamande

Journal article  |  2020  |  Stem Cell Research

To develop an iPSC SOX9 reporter line for monitoring differentiation into SOX9 expressing cells such as chondrocytes, cranial neur..

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

Anina Bauer, John F Bateman, Shireen R Lamande, Eric Hanssen, Shannon GM Kirejczyk, Mark Yee, Ali Ramiche, Vidyha Jagannathan, Monika Welle, Tosso Leeb, Fiona L Bateman

Journal article  |  2019  |  Genes

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable disorders affecting connective tissues. The mutations cau..

A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy

V Bolduc, A Foley, H Solomon Degefa, A Sarathy, S Donkervoort, Y Hu, H Zhou, B Cummings, M Lek, O Regev, C Jimenez-Mallebrera, V Allamand, A Ferlini, S Wilton, E Hanssen, S Lamande, D MacArthur, R Wagener, F Muntoni, C Bonnemann

Conference Proceedings  |  2019  |  Neuromuscular Disorders