A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis

Yoji Ogura, Ikuyo Kou, Shigenori Miura, +32

The American Journal of Human Genetics

Functional SnpBnc2 Is AssociatedGenetic EpidemiologyPathologySpine Deformity +4

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Jiaqi Liu, Nan Wu, Nan Yang, +60

Genetics in Medicine

Compound InheritanceSpinal Cord InjuryCongenital ScoliosisSpine DeformityThoracic Spine +5

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in<i>TBX6</i>Causes Congenital Scoliosis

Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, +13

Human Mutation

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis

Yoji Ogura, Ikuyo Kou, Yohei Takahashi, +35

Human Molecular Genetics

GeneticsGenetic EpidemiologyPathologySpine DeformityDisease Gene Identification +27

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

Ikuyo Kou, Kota Watanabe, Yohei Takahashi, +58

Scientific Reports

Screening of known disease genes in congenital scoliosis

Kazuki Takeda, Ikuyo Kou, Shuji Mizumoto, +13

Molecular Genetics & Genomic Medicine

Identification of novel LFNG mutations in spondylocostal dysostosis

Nao Otomo, Shuji Mizumoto, Hsing-Fang Lu, +10

Journal of Human Genetics

Novel Lfng MutationsMedicineGeneticsPathologyMolecular Genetics +4

Risk factors for early-onset radiographical adjacent segment disease in patients with spondylolytic spondylolisthesis after single-level posterior lumbar interbody fusion

Kazuki Takeda, Eijiro Okada, Yoshio Shinozaki, +12

The Spine Journal

RheumatologyLumbosacral RadiculopathySpondylolytic SpondylolisthesisLumbar SpineDegenerative Spine +8

Bi-allelic loss of function variants of <i>TBX6</i> causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

Nao Otomo, Kazuki Takeda, Shunsuke Kawai, +26

Journal of Medical Genetics

Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst

Yoji Ogura, Noriko Miyake, Ikuyo Kou, +15

PLoS ONE

Developmental AnomalySpinal Cord InjurySpinal DisorderNeurological DisorderNeuroanatomy +13