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List of works by Shireen R Lamandé

A Disintegrin and Metalloproteinase with Thrombospondin Motifs-5 (ADAMTS-5) Forms Catalytically Active Oligomers

scientific article published on 14 December 2015

A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.

scientific article published on 5 April 2016

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

scientific article published on 21 March 2019

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain

scientific article

Activating internal ribosome entry to treat Duchenne muscular dystrophy

scientific article published on 01 September 2014

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

scientific article

Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

scientific article

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

scientific article published on 06 September 2020

Circadian time series proteomics reveals daily dynamics in cartilage physiology

scientific article published on 19 February 2021

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.

scientific article published on 22 December 2017

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy

scientific article

Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia

scientific article

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

scientific article published on 9 May 2016

Effect of rapamycin on bone mass and strength in the α2(I)-G610C mouse model of osteogenesis imperfecta.

scientific article

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

scientific article published on 01 February 2020

Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications

scientific article published on 11 June 2019

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

scientific article

GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

scientific article published on September 2016

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

scientific article published on 19 December 2019

Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing

scientific article published on 23 April 2019

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

scientific article published on 10 December 2020

Genetic Disorders of the Extracellular Matrix

scientific article published on 15 February 2019

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

scientific article published on 21 September 2019

Intracellular trafficking and degradation of unassociated proalpha2 chains of collagen type I.

scientific article published in June 2004

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

scientific article published on 2 October 2011

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms

scientific article

Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture

scientific article

Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones

scientific article

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

scientific article

Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.

scientific article

Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy.

scientific article published in March 2015

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

scientific article

The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells

scientific article

The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis

scientific journal article

The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line

scientific article published on 04 May 2019

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