Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, +21

The American Journal of Human Genetics

Ehlers-danlos SyndromeMendelian DisorderAutoimmune DiseaseDisease MechanismGenetic Disorder +6

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Joachim Schessl, Yaqun Zou, Meagan J. McGrath, +18

Journal of Clinical Investigation

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Dessislava Markova, Yaqun Zou, Franziska Ringpfeil, +5

The American Journal of Human Genetics

Genetic DiversityCutis LaxaComparative GenomicsGeneticsEvolutionary Biology +8

Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

Yaqun Zou, Rui-Zhu Zhang, Patrizia Sabatelli, +2

Journal of Neuropathology & Experimental Neurology

FibrosisDevelopmental BiologyCollagen Vi SynthesisCollagen ViCollagen Vi Mutation +12

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Yaqun Zou, Daniela Zwolanek, Yayoi Izu, +16

Human Molecular Genetics

EngineeringGeneticsPathologyCytoskeletonDisease Gene Identification +19

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy

Belinda S. Cowling, Meagan J. McGrath, Mai-Anh Nguyen, +9

The Journal of Cell Biology

Muscle FunctionCalcineurin InhibitionMolecular RegulationPathologySkeletal Muscle Mass +19

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Debbie Hicks, Golara Torabi Farsani, S.H. Laval, +11

Human Molecular Genetics

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Joachim Schessl, Ana Lía Taratuto, Caroline A. Sewry, +20

Brain

Mitochondrial MyopathyMechanobiologyProgressive WeaknessAutoimmune DiseaseDisease Mechanism +13

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes

Janbernd Kirschner, Yaqun Zou, Gudrun Schreiber, +6

American Journal of Medical Genetics Part A

Position of Glycine Substitutions in the Triple Helix of<i>COL6A1</i>,<i>COL6A2</i>, and<i>COL6A3</i>is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Russell J. Butterfield, A. Reghan Foley, Jahannaz Dastgir, +10

Human Mutation