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

The Journal of biological chemistry, 2021-01, Vol.296, p.100027-100027, Article 100027

2021

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Pathogenic Variants of the PHEX Gene

Endocrines, 2022-08, Vol.3 (3), p.498-511

2022

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Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Endocrine Journal, 2023, pp.EJ22-0477

2023

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Clinical Practice Guidelines for Hypophosphatasia

Clinical Pediatric Endocrinology, 2020, Vol.29(1), pp.9-24

2020

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Clinical Practice Guidelines for Achondroplasia

Clinical Pediatric Endocrinology, 2020, Vol.29(1), pp.25-42

2020

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Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study

PloS one, 2023-08, Vol.18 (8), p.e0290812-e0290812

2023

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

Endocrine Journal, 2021, Vol.68(7), pp.807-815

2021

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

Endocrine Journal, 2020, Vol.67(12), pp.1227-1232

2020

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

Endocrine Journal, 2019, Vol.66(1), pp.19-29

2019

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

PloS one, 2012-08, Vol.7 (8), p.e42180

2012

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

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.158-165

2019

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Increased S1P expression in osteoclasts enhances bone formation in an animal model of Paget's disease

Journal of cellular biochemistry, 2021-04, Vol.122 (3-4), p.335-348

2021

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Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels

Internal Medicine, 2020/03/15, Vol.59(6), pp.811-815

2020

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

Clinical Pediatric Endocrinology, 2023, pp.2022-0076

2023

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A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant

Clinical Pediatric Endocrinology, 2023, Vol.32(3), pp.161-167

2023

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Current concepts in perinatal mineral metabolism

Clinical Pediatric Endocrinology, 2016, Vol.25(1), pp.9-17

2016

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Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice

PloS one, 2014-04, Vol.9 (4), p.e93840-e93840

2014

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Elevated Fibroblast Growth Factor 23 Exerts Its Effects on Placenta and Regulates Vitamin D Metabolism in Pregnancy of Hyp Mice

Journal of bone and mineral research, 2014-07, Vol.29 (7), p.1627-1638

2014

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Both FGF23 and extracellular phosphate activate Raf/MEK/ERK pathway via FGF receptors in HEK293 cells

Journal of cellular biochemistry, 2010-12, Vol.111 (5), p.1210-1221

2010

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A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

Bone Reports, 2023-06, Vol.18, p.101673, Article 101673

2023

Volltextzugriff (PDF)

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta

Clinical Pediatric Endocrinology, 2022, Vol.31(3), pp.205-208

2022

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

Clinical Pediatric Endocrinology, 2019, Vol.28(1), pp.1-7

2019

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IGF2 Mutations

The journal of clinical endocrinology and metabolism, 2020-01, Vol.105 (1), p.116-125

2020

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Interleukin-1-induced acute bone resorption facilitates the secretion of fibroblast growth factor 23 into the circulation

Journal of bone and mineral metabolism, 2015-05, Vol.33 (3), p.342-354

2015

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

Bone (New York, N.Y.), 2016-04, Vol.85, p.91-98

2016

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

Pathogenic Variants of the PHEX Gene

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Clinical Practice Guidelines for Hypophosphatasia

Clinical Practice Guidelines for Achondroplasia

Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study

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

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

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

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

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

Increased S1P expression in osteoclasts enhances bone formation in an animal model of Paget's disease

Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels

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

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant

Current concepts in perinatal mineral metabolism

Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice

Elevated Fibroblast Growth Factor 23 Exerts Its Effects on Placenta and Regulates Vitamin D Metabolism in Pregnancy of Hyp Mice

Both FGF23 and extracellular phosphate activate Raf/MEK/ERK pathway via FGF receptors in HEK293 cells

A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta

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

IGF2 Mutations

Interleukin-1-induced acute bone resorption facilitates the secretion of fibroblast growth factor 23 into the circulation

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

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