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Endocrine Journal, ISSN 0918-8959, 2017, Volume 64, Issue 3, pp. 283 - 289
X-linked hypophosphatemia (XLH) is a group of rare disorders caused by defective proximal tubular reabsorption of phosphate. Mutations in the PHEX gene are... 
Hypertension | Hypophosphatemic rickets | X-linked hypophosphatemia | PHEX | Hyperparathyroidism | RICKETS | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | KRN23 | Familial Hypophosphatemic Rickets - diet therapy | Prevalence | Humans | Nephrocalcinosis - epidemiology | Child, Preschool | Hospitals, Pediatric | Male | Phosphates - therapeutic use | Nephrocalcinosis - etiology | Hypertension - etiology | Young Adult | Familial Hypophosphatemic Rickets - genetics | Hyperparathyroidism, Secondary - epidemiology | Tokyo - epidemiology | Nephrocalcinosis - prevention & control | PHEX Phosphate Regulating Neutral Endopeptidase - genetics | Hypertension - prevention & control | Adult | Female | Retrospective Studies | Hypertension - epidemiology | Child | Hyperparathyroidism, Secondary - prevention & control | Familial Hypophosphatemic Rickets - physiopathology | Medical Records | Bone Density Conservation Agents - therapeutic use | Hydroxycholecalciferols - therapeutic use | Adolescent | Age of Onset | Mutation | Hyperparathyroidism, Secondary - etiology | Dietary Supplements | Phenotypes | Renal function | Epidermal growth factor receptors | Medical records | Reabsorption | Patients | Genotype & phenotype | Dental disorders | Missense mutation | Correlation analysis | Calcinosis | Point mutation | Hypophosphatemia | Kidney diseases | Age | Genotypes
Journal Article
BMC Plant Biology, ISSN 1471-2229, 06/2012, Volume 12, Issue 1, pp. 80 - 80
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2016, Volume 113, Issue 47, pp. 13432 - 13437
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 11717 - 13
GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often... 
BONE-DENSITY | HOMOTRIMER | GENE | MULTIDISCIPLINARY SCIENCES | TRIPLE-HELIX | I COLLAGEN | MICE | CHAINS | SP1 BINDING-SITE | RECEPTOR-3 | MOLECULES | Collagen (type I) | Transcription | Splicing | Spine | Transversion | Gene expression | Fractures | Ethyl nitrosourea | Exon skipping | Osteogenesis imperfecta | Mutation | Osteogenesis | Splice junctions
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 01/2019, Volume 20, Issue 2, p. 430
Small interfering RNAs (siRNAs) have been attracting significant attention owing to their gene silencing properties, which can be utilized to treat intractable... 
Liposome | SiRNA delivery | Transfection | Thermoresponsive polymer | DOUBLE-STRANDED-RNA | thermoresponsive polymer | BIOCHEMISTRY & MOLECULAR BIOLOGY | transfection | MICELLES | CHROMATOGRAPHY | INTRACELLULAR UPTAKE | CHEMISTRY, MULTIDISCIPLINARY | liposome | MOLECULAR DESIGN | NANOPARTICLES | MESSENGER-RNA | siRNA delivery | SEPARATION | HYDROPHOBIC GROUPS | SURFACES
Journal Article
Medicine, ISSN 0025-7974, 08/2019, Volume 98, Issue 32, p. e16770
Byline: Koichi Sakaguchi, Division of Endocrine and Breast Surgery, Kyoto Prefectural University of Medicine, Kawaramachi-hirokoji, Kamigyo-ku, Kyoto; Hisako... 
Journal Article
Nature Medicine, ISSN 1078-8956, 04/2006, Volume 12, Issue 4, pp. 466 - 472
Journal Article