Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio, +18

Nature Genetics

Genome InstabilitySkeletal MuscleGeneticsMolecular BiologyDegenerative Disease +5

Characterization of a novel cell line established from a patient with Herceptin-resistant breast cancer

Minna Tanner, Anita I. Kapanen, Teemu T. Junttila, +5

Molecular Cancer Therapeutics

Tumor BiologyBreast OncologyNovel Cell LineClinical ResistanceHerceptin-resistant Breast Cancer +11

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman, +20

The American Journal of Human Genetics

MechanobiologyFilamin C CauseN-terminal Actin-binding DomainDistal MyopathyMolecular Biology +5

PME-1 Protects Extracellular Signal-Regulated Kinase Pathway Activity from Protein Phosphatase 2A–Mediated Inactivation in Human Malignant Glioma

Pietri Puustinen, Melissa R. Junttila, Sari Vanhatupa, +10

Cancer Research

Extracellular Signal-regulated KinaseCancer BiologyGliomaHuman Malignant GliomaTumor Biology +17

Atypical phenotypes in titinopathies explained by second titin mutations

Anni Evilä, Anna Vihola, J. Sarparanta, +17

Annals of Neurology

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

Olayinka Raheem, Shodimu-Emmanuel Olufemi, Linda L. Bachinski, +7

American Journal Of Pathology

Mendelian DisorderGenetic DisorderMedicineGeneticsMolecular Biology +3

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Anna Vihola, Linda L. Bachinski, Mario Sirito, +14

Acta Neuropathologica

Myotonic Dystrophies Dm1Aberrant ExpressionMolecular BiologyPathologyMedicine +2

Perinuclear leucine-rich repeats and immunoglobulin-like domain proteins (LRIG1-3) as prognostic indicators in astrocytic tumors

Dongsheng Guo, Jonas Nilsson, Hannu Haapasalo, +4

Acta Neuropathologica

Tumor BiologyNeuro-oncologyPerinuclear Leucine-rich RepeatsGliomaMedicine +8

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Johanna Palmio, Satu Sandell, Tiina Suominen, +6

Neuromuscular Disorders

Mendelian DisorderGenetic DisorderGeneticsPathologyVcp Gene Mutation +5

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

Homa Tajsharghi, David Hilton‐Jones, Olayinka Raheem, +3

Brain

Muscle TissueMuscle FunctionMuscle BiopsyGeneticsPathology +24