1. A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.

    Journal of Neurology, Neurosurgery & Psychiatry 87(8):851 (2016) PMID 26746183

    To classify the patterns of functional decline in patients with sporadic amyotrophic lateral sclerosis (ALS) and explore the genetic backgrounds that modified these patterns. We included 465 patients with sporadic ALS in the analysis and clustered the longitudinal functional scores in the regist...
  2. Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

    Journal of Medical Genetics 53(8):568 (2016) PMID 27055475

    Osteosclerotic metaphyseal dysplasia (OSMD) is a unique form of osteopetrosis characterised by severe osteosclerosis localised to the bone ends. The mode of inheritance is autosomal recessive. Its genetic basis is not known. To identify the disease gene for OSMD. By whole exome sequencing in a b...
  3. Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.

    American Journal of Medical Genetics Part A 170(8):2212 (2016) PMID 27264419

  4. Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.

    The American Journal of Human Genetics 99(1):202 (2016) PMID 27374772

    Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common spinal disorder that results from ectopic ossification of the posterior longitudinal ligament and causes intractable myelopathy and radiculopathy. In a previous genome-wide association study (GWAS), we found six ...
  5. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

    The American Journal of Human Genetics 98(6):1243 (2016) PMID 27236923 PMCID PMC4908150

    Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second ...
  6. [Genome-wide association study for adolescent idiopathic scoliosis].

    Clinical calcium 26(4):553 (2016) PMID 27013625

    Adolescent idiopathic scoliosis(AIS)is a polygenic disease. Genome-wide association studies(GWASs)have been performed for a lot of polygenic diseases. For AIS, we conducted GWAS and identified the first AIS locus near LBX1. After the discovery, we have extended our study by increasing the number...
  7. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

    Journal of Medical Genetics 53(3):152 (2016) PMID 26543203 PMCID PMC4789813

    SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodev...
  8. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    American Journal of Medical Genetics Part A 170A(2):460 (2016) PMID 26463668

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been repo...
  9. A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity.

    Human Genome Variation 3:16007 (2016) PMID 27274858 PMCID PMC4871930

    The purpose of this study was to describe a family with spondyloepiphyseal dysplasia caused by a novel type II collagen gene (COL2A1) mutation and the family's phenotypic diversity. Clinical and radiographic examinations of skeletal dysplasia were conducted on seven affected family members acros...
  10. Genomic study of adolescent idiopathic scoliosis in Japan.

    Scoliosis and Spinal Disorders 11:5 (2016) PMID 27299157 PMCID PMC4900236

    Adolescent idiopathic scoliosis (AIS) is a common disease. It is a multi-factorial (polygenic) disease controlled by genetic and environmental factors. Studies searching for genetic factors of AIS using linkage and association analyses have been conducted and several susceptibility genes have be...
  11. Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.

    PLoS Genetics 12(1):e1005802 (2016) PMID 26820155 PMCID PMC4731154

    Previously, we identified an adolescent idiopathic scoliosis susceptibility locus near human ladybird homeobox 1 (LBX1) and FLJ41350 by a genome-wide association study. Here, we characterized the associated non-coding variant and investigated the function of these genes. A chromosome conformatio...
  12. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

    PLoS ONE 11(3):e0150555 (2016) PMID 26974433 PMCID PMC4790905

    Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations...
  13. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

    Scientific reports 6:27684 (2016) PMID 27291587 PMCID PMC4904372

    We report identification and genetic characterization of a rare skeletal disorder that remained unidentified for decades in a village of Jammu and Kashmir, India. The population residing in this region is highly consanguineous and a lack of understanding of the disorder has hindered clinical man...
  14. A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.

    The American Journal of Human Genetics 97(2):337 (2015) PMID 26211971 PMCID PMC4573260

    Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity. We previously conducted a genome-wide association study (GWAS) and detected two loci associated with AIS. To identify additional loci, we extended our GWAS by increasing the number of cohorts (2,109 affected subjects and ...
  15. [Analysis of Musculoskeletal Systems and Their Diseases. Genomic medicine of bone and joint diseases : present and future].

    Clinical calcium 25(8):1125 (2015) PMID 26224668

    Susceptibility genes for various kinds of common diseases have been identified by the genome-wide association study (GWAS) and the outcome is changing the clinical medicine significantly. Musculoskeletal disease is no exception. In this paper, I review the current status and prospect of GWAS in ...
  16. A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

    Journal of Clinical Endocrinology & Metabolism 100(4):1221 (2015) PMID 25664603

    Ciliopathies are a group of rare conditions that present through a wide range of manifestations. Given the relative common occurrence of defects of the GH/IGF-I axis in children with short stature and growth retardation, the association between ciliopathies and these defects needs further attent...
  17. Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

    Human Mutation 36(2):191 (2015) PMID 25402547

    Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis wi...
  18. A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

    European Journal of Medical Genetics 58(2):105 (2015) PMID 25486376

    Desbuquois dysplasia (DBQD) is a rare skeletal dysplasia characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay. DBQD is clinically heterogeneous. Distinct radiographic hand abnormalities such as the presence of extra-ossification distal to the seco...
  19. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

    Human Molecular Genetics 24(2):299 (2015) PMID 25187577

    Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes. In the ...
  20. Influence of intra-articular administration of trichostatin a on autologous osteochondral transplantation in a rabbit model.

    BioMed Research International 2015:470934 (2015) PMID 25866784 PMCID PMC4381848

    Autologous osteochondral transplantation (AOT) is a method for articular cartilage repair. However, several disadvantages of this method have been reported, such as transplanted cartilage degeneration and the lack of a connection between the grafted and adjacent cartilage tissues. To evaluate th...