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