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Lamandé, SR.
Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.
1348:
311 -323
2021
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Nur Patria, Y, Stenta, T, Lilianty, J, Rowley, L, Stanley, EG, Elefanty, AG, Bateman, JF, Lamandé, SR.
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).
Stem Cell Research
48:
101942
2020
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Kung, LHW, Sampurno, L, Yammine, KM, Graham, A, McDonald, P, Bateman, JF, Shoulders, MD, Lamandé, SR.
CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A.
Stem Cell Research
48:
101962
2020
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Pham, HT, Kram, V, Dar, Q-A, Komori, T, Ji, Y, Mohassel, P, Rooney, J, Li, L, Kilts, TM, Bonnemann, C, et al.
Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling..
Sci Rep
10(1)
:
13749
2020
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Lamandé, SR, Bateman, JF.
Genetic Disorders of the Extracellular Matrix.
The Anatomical Record
303(6)
:
1527 -1542
2020
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