池川志郎
이케가와 시로 1957-
池川, 志郎
VIAF ID: 116685096 (Personal)
Permalink: http://viaf.org/viaf/116685096
Preferred Forms
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100 1 _ ‡a 池川, 志郎
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100 0 _ ‡a 池川志郎
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100 1 _ ‡a 이케가와 시로 ‡d 1957-
4xx's: Alternate Name Forms (11)
Works
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Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable? |
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Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones |
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Characterizing rare and low-frequency height-associated variants in the Japanese population |
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Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development |
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Cystatin 10, a novel chondrocyte-specific protein, may promote the last steps of the chondrocyte differentiation pathway |
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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling |
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Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity |
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Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice |
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Efficient detection of copy-number variations using exome data: batch- and sex-based analyses |
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Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q |
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Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development |
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A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation |
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A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease |
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A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population |
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Genomic study of adolescent idiopathic scoliosis in Japan |
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GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits |
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Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. |
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Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells |
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Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2) |
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Isolation, characterization and mapping of the mouse and human RB1CC1 genes |
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Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex |
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Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases |
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Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210 |
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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome |
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Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. |
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Mechanisms for asporin function and regulation in articular cartilage |
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Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture |
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Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 |
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A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis |
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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders |
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Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia |
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Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome |
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De novo SOX11 mutations cause Coffin-Siris syndrome |
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Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine |
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Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human |
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PLAP-1/asporin, a novel negative regulator of periodontal ligament mineralization |
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Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation |
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Recapitulating the human segmentation clock with pluripotent stem cells |
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Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity |
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Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis |
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Replication of caucasian loci associated with osteoporosis-related traits in East Asians |
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Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese |
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The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type |
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Shwachman-Diamond syndrome is associated with low-turnover osteoporosis |
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Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation |
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SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice |
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SMOC1 is essential for ocular and limb development in humans and mice |
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SOX9-dependent and -independent transcriptional regulation of human cartilage link protein |
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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins |
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TRPV4-associated skeletal dysplasias |
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TRPV4-pathy, a novel channelopathy affecting diverse systems |
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Truncating mutations of RB1CC1 in human breast cancer |
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The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways |
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骨系統疾患の遺伝子解析 |
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