T. Kubota

发表

PTH/cAMP/PKA signaling facilitates canonical Wnt signaling via inactivation of glycogen synthase kinase‐3β in osteoblastic Saos‐2 cells

K. Ozono, Akira Suzuki, T. Kubota, 2008, Journal of cellular biochemistry.

Regulation of Ligand and Shear Stress-induced Insulin-like Growth Factor 1 (IGF1) Signaling by the Integrin Pathway*

C. Tahimic, J. Vilardaga, T. Kubota, 2016, The Journal of Biological Chemistry.

Wnt Signaling in Bone

K. Ozono, T. Kubota, T. Michigami, 2010, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis

Matthias B. Wahl, U. Heinzmann, R. Grosschedl, 2004, Development.

Incidence rate of vitamin D deficiency and FGF23 levels in 12- to 13-year-old adolescents in Japan

K. Ozono, T. Kubota, S. Yoshihara, 2020, Journal of Bone and Mineral Metabolism.

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

H. Yoshikawa, K. Ozono, K. Ebina, 2019, Osteoporosis International.

Wnt signaling in bone metabolism

K. Ozono, T. Kubota, T. Michigami, 2009, Journal of Bone and Mineral Metabolism.

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

R. Eastell, J. S. San Martin, S. Ralston, 2019, Calcified Tissue International.

Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23

K. Ozono, Y. Takeuchi, S. Kitanaka, 2021, Journal of Bone and Mineral Metabolism.

Insulin-like growth factor-1 receptor in mature osteoblasts is required for periosteal bone formation induced by reloading.

T. Kubota, D. Bikle, N. Saless, 2013, Acta astronautica.

Gender‐Specific Differences in the Skeletal Response to Continuous PTH in Mice Lacking the IGF1 Receptor in Mature Osteoblasts

T. Kubota, D. Bikle, Yongmei Wang, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Skeletal unloading–induced insulin‐like growth factor 1 (IGF‐1) Nonresponsiveness is not shared by platelet‐derived growth factor: The selective role of integrins in IGF‐1 signaling

T. Kubota, D. Bikle, S. Nishida, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension

R. Eastell, S. Ralston, M. Brandi, 2021, RMD Open.

Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts

M. Wataya-Kaneda, I. Katayama, T. Kubota, 2018, The Journal of dermatology.

Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta

K. Ozono, T. Kubota, N. Namba, 2011, Journal of Bone and Mineral Metabolism.

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.

H. Tsukahara, K. Ihara, K. Ozono, 2018, Endocrine journal.

Serum Fibroblast Growth Factor 23 Is a Useful Marker to Distinguish Vitamin D-Deficient Rickets from Hypophosphatemic Rickets

K. Ozono, T. Kubota, N. Namba, 2014, Hormone Research in Paediatrics.

A Spectrum of Clinical Presentations in Seven Japanese Patients with Vitamin D Deficiency

K. Ozono, T. Kubota, N. Namba, 2006, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study

R. Eastell, S. Ralston, M. Brandi, 2022, Calcified Tissue International.

Clinical Practice Guidelines for Hypophosphatasia*

K. Ozono, T. Kubota, T. Michigami, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Single‐Arm, International Trial

J. S. San Martin, F. Rauch, T. Kubota, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Advance Publication by J-STAGE Clinical Pediatric Endocrinology

K. Ozono, N. Haga, T. Kubota, 2021 .

Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial

K. Ozono, T. Kubota, Y. Seino, 2022, Journal of the Endocrine Society.

Serum calcitriol levels in a patient with X-linked hypophosphatemia complicated by autosomal dominant polycystic kidney disease

K. Ozono, T. Kubota, T. Michigami, 2017, CEN Case Reports.

Phenotypes of a family with XLH with a novel PHEX mutation

K. Ozono, T. Kubota, Akiko Yamamoto, 2020, Human Genome Variation.

Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report

K. Ozono, T. Kubota, K. Bessho, 2021, World journal of clinical pediatrics.

Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets.

K. Ozono, T. Kubota, T. Michigami, 2021, Endocrine journal.

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

H. Yoshikawa, K. Ozono, T. Kubota, 2012, PloS one.

CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B

K. Ozono, T. Kubota, Kanako Tachikawa, 2018, Human molecular genetics.

Beneficial Effect of Oral Bisphosphonate Treatment on Bone Loss Induced by Chronic Administration of Furosemide without Alteration of Its Administration and Urinary Calcium Loss

S. Kurotobi, S. Kogaki, K. Ozono, 2006, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

IGF‐I Signaling in Osterix‐Expressing Cells Regulates Secondary Ossification Center Formation, Growth Plate Maturation, and Metaphyseal Formation During Postnatal Bone Development

T. Kubota, D. Bikle, Yongmei Wang, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

K. Ozono, Kenichi Yamamoto, T. Kubota, 2019, Endocrine journal.

Phosphate promotes osteogenic differentiation through non-canonical Wnt signaling pathway in human mesenchymal stem cells.

K. Ozono, Kenichi Yamamoto, T. Kubota, 2022, Bone.

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

K. Ozono, Kenichi Yamamoto, T. Kubota, 2022, Bone reports.

Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports

T. Cho, K. Ozono, T. Kubota, 2016, American journal of medical genetics. Part A.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report

K. Ozono, Kenichi Yamamoto, T. Kubota, 2019, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

F. Glorieux, K. Ozono, Y. Imanishi, 2014, Bone.

Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta

K. Ozono, N. Haga, T. Kubota, 2019, Journal of Bone and Mineral Metabolism.

Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia

K. Ozono, N. Haga, T. Kubota, 2019, Calcified Tissue International.

Clinical Practice Guidelines for Achondroplasia*

K. Ozono, T. Kubota, T. Michigami, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature

H. Jüppner, K. Ozono, T. Kubota, 2014, European Journal of Pediatrics.

Early exfoliation of permanent tooth in patient with hypophosphatasia

K. Ozono, T. Kubota, K. Nakano, 2017 .

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.

T. Morio, K. Ozono, T. Kubota, 2020, Endocrine journal.

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients

K. Ozono, T. Kubota, Kanako Tachikawa, 2019, Calcified Tissue International.

Serum NT‐proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia

K. Ozono, T. Kubota, N. Namba, 2016, Clinical endocrinology.

An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene

K. Ozono, T. Kubota, T. Michigami, 2013, International Journal of Pediatric Endocrinology.

Pediatric aspects of skeletal dysplasia.

K. Ozono, T. Kubota, T. Michigami, 2012, Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism.

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy

Y. Okada, K. Ozono, T. Kaname, 2019, American journal of medical genetics. Part A.

Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D

K. Ozono, T. Kaname, K. Yanagi, 2018, American journal of medical genetics. Part A.

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan

S. Sugihara, T. Kubota, Hironori Kobayashi, 2018, Hormone Research in Paediatrics.

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

M. Kogo, T. Yamashiro, T. Miyashita, 2019, Human Genome Variation.

Successful induction of sclerostin in human-derived fibroblasts by 4 transcription factors and its regulation by parathyroid hormone, hypoxia, and prostaglandin E2.

Wei Wang, Yasuji Kitabatake, D. Okuzaki, 2016, Bone.

Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

E. Morii, S. Kogaki, K. Ozono, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy

H. Yoshikawa, T. Kaito, T. Makino, 2018, Journal of bone and mineral metabolism.

A Case with Marshall-Smith Syndrome without Life-threatening Complications

H. Arai, K. Ozono, T. Kubota, 2005 .

Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene.

K. Ozono, T. Kubota, T. Shimotsuji, 2001, Endocrine journal.

Development of hyperthyroidism in a patient with idiopathic nephrotic syndrome

T. Kubota, H. Kondou, A. Sawada, 2002, Pediatric Nephrology.

Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.

Katsuhiro Kobayashi, T. Akiyama, K. Ozono, 2018, Molecular genetics and metabolism.

Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome

K. Nakanishi, S. Ito, Hidefumi Nakamura, 2021, Journal of the American Society of Nephrology : JASN.

A Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report

M. Kogo, K. Ozono, T. Kubota, 2009, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study

H. Cheong, K. Ozono, S. Fukumoto, 2020, BMJ Open.

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

T. Ogata, K. Ozono, S. Okada, 2017, Clinical endocrinology.

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

T. Taketani, K. Ozono, T. Kubota, 2019, PloS one.

Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro.

M. Kogo, K. Ozono, T. Kubota, 2019, Molecular genetics and metabolism.

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

K. Ozono, T. Kubota, Hiroko Sato, 2019, Journal of Medical Case Reports.

4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts

K. Mizuno, K. Ozono, Y. Taga, 2020, The Journal of biological chemistry.

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan

S. Okada, S. Sugihara, T. Kubota, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Oral manifestations of Japanese patients with osteogenesis imperfecta

K. Ozono, T. Kubota, K. Nakano, 2017 .

Lrp6 Hypomorphic Mutation Affects Bone Mass Through Bone Resorption in Mice and Impairs Interaction With Mesd

K. Ozono, Akira Suzuki, T. Kubota, 2008, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

R. Eastell, J. S. San Martin, S. Ralston, 2019, Calcified Tissue International.

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

K. Ozono, H. Mabe, Kenichi Yamamoto, 2021, Bone.

K. Ozono, N. Haga, T. Kubota, 2021, Progress in rehabilitation medicine.

An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice

Yoshikazu Nakamura, T. Zikmund, D. Krakow, 2021, Science Translational Medicine.

Self-Administration of Burosumab in Children and Adults with X-Linked Hypophosphataemia in Two Open-Label, Single-Arm Clinical Studies

K. Ozono, Y. Takeuchi, Y. Imanishi, 2023, Advances in Therapy.

Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study

K. Ozono, N. Haga, T. Kubota, 2021, Clinical Pediatric Endocrinology.

Assessment of Obesity in Children with Achondroplasia and Hypochondroplasia

K. Ozono, T. Kubota, Y. Ohata, 2018 .

Prevalence of pseudohypoparathyroidism and nonsurgical hypoparathyroidism in Japan in 2017: A nationwide survey.

K. Ozono, S. Fukumoto, Yosikazu Nakamura, 2022, Journal of Epidemiology.

Endocrinological and phenotype evaluation in a patient with acrodysostosis

K. Ozono, T. Kubota, N. Namba, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4

K. Ozono, Kenichi Yamamoto, T. Kubota, 2023, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A Male Patient with Humoral Hypercalcemia of Malignancy (HHM) with Leukocytosis Caused by Cutaneous Squamous Cell Carcinoma Resulting from Recessive Dystrophic Epidermolysis Bullosa

Y. Etani, S. Kogaki, K. Ozono, 2011, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess

K. Ihara, K. Ozono, T. Kubota, 2020, CEN Case Reports.

Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports

T. Cho, K. Ozono, T. Kubota, 2016, American journal of medical genetics. Part A.

IGF‐I Signaling in Osterix‐Expressing Cells Regulates Secondary Ossification Center Formation, Growth Plate Maturation, and Metaphyseal Formation During Postnatal Bone Development

T. Kubota, D. Bikle, Yongmei Wang, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.