Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya, +14

Developmental Cell

Mendelian DisorderNeuronal Migration DisorderGenetic DisorderMedicineGenetics +6

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

Hiroki Kano, Irene Godoy, Christine Courtney, +4

Genes & Development

GeneticsMolecular GeneticsEpigeneticsEmbryologyLong Non-coding Rna +18

L1 retrotransposition can occur early in human embryonic development

José A. J. M. van den Hurk, Iwan C. Meij, Maria del Carmen Seleme, +10

Human Molecular Genetics

Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease

Hiroki Kano, Kazuhiro Kobayashi, Ralf Herrmann, +11

Biochemical and Biophysical Research Communications

Ocular DiseaseOphthalmologyMedicineDegenerative DiseaseNeurology +4

Alternative splicing regulates the transcriptional activity of <i>Drosophila</i> heat shock transcription factor in response to heat/cold stress

Nobuhiro Fujikake, Yoshitaka Nagai, H. Akiko Popiel, +3

FEBS Letters

Molecular pathogenesis of Spondylocheirodysplastic Ehlers‐Danlos syndrome caused by mutant ZIP13 proteins

Bum‐Ho Bin, Shintaro Hojyo, Toshiaki Hosaka, +22

EMBO Molecular Medicine

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Ralph S. Lachman, Barbara K. Burton, L. Clarke, +10

Skeletal Radiology

Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype

Hiroki Kano, Hiroki Kurahashi, Tatsushi Toda

Proceedings of the National Academy of Sciences

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Yoji Ogura, Shoji Yabuki, Aritoshi Iida, +10

PLoS ONE

GeneticsPathologyDisease Gene IdentificationSpinal DisorderClinical Genetics +14

Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

Hiroki Kano, Kenji Kurosawa, Emiko Horii, +4

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyChromosomal Rearrangement +3