☆ 3.8 Article

Perspective on Dentoalveolar Manifestations Resulting From PHOSPHO1 Loss-of-Function: A Form of Pseudohypophosphatasia?

FRONTIERS IN DENTAL MEDICINE (2022)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Endocrinology & Metabolism

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

Eric T. Rush et al.

Summary: X-linked hypophosphatemia (XLH) is a dominant genetic disorder caused by pathogenic variants in the PHEX gene, leading to symptoms such as rickets, osteomalacia, short stature, and musculoskeletal issues. A free genetic sequencing test was found to help confirm clinical diagnosis of XLH, and the study identified numerous novel variants in XLH genetics research.

JOURNAL OF BONE AND MINERAL RESEARCH (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Etienne Mornet et al.

Summary: The study analyzed a cohort of 424 HPP patients of European origin, classifying ALPL pathogenic variants based on their dominant negative effects and severity. Homozygosity was found to exacerbate severity, with moderate alleles being rare. Pathogenic variants with no dominant negative effect were associated with milder symptoms, suggesting a new clinical entity.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

添加到收藏夹

Article Endocrinology & Metabolism

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

Nico Maximilian Jandl et al.

Summary: Hypophosphatasia (HPP) is a rare congenital metabolic disorder caused by decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). The study analyzed 72 patients with rare ALPL variants, finding a potential association between rare ALPL variants and bone and tooth complications that could aid in the diagnosis of adult HPP.

CALCIFIED TISSUE INTERNATIONAL (2021)

添加到收藏夹

Article Endocrinology & Metabolism

Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations

K. Kramer et al.

Summary: ALPL gene mutation causes hypophosphatasia (HPP), affecting dental mineralized tissues. Research shows HPP impacts all dental tissues, with the patient exhibiting significant root structure preservation in teeth.

BONE (2021)

添加到收藏夹

Article Genetics & Heredity

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

Tobias Schmidt et al.

Summary: This study estimates the prevalence of low AP activity and elevated PLP levels in a population in northern Germany, suggesting that 0.52% of subjects show laboratory signs of HPP. The data support the notion that the prevalence of moderate forms of HPP may be higher than expected.

ORPHANET JOURNAL OF RARE DISEASES (2021)

添加到收藏夹

Article Endocrinology & Metabolism

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasae mia; Data from an endocrinological outpatient clinic in Denmark

Nicola Hepp et al.

Summary: This study investigated the prevalence of ALPL variants and clinical features among adults with persistent hypophosphatasaemia, finding that ALPL pathogenic variants are common in this population with musculoskeletal pain being a frequent clinical presentation. Genetic testing is crucial for diagnosing mild HPP due to fluctuating biochemical findings. Antiresorptive treatment is a common cause of hypophosphatasaemia in these patients, with unclear effects on adults with ALPL variants and osteoporosis needing further studies.

BONE REPORTS (2021)

添加到收藏夹

Article Pediatrics

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

Michael P. Whyte et al.

JOURNAL OF PEDIATRICS (2019)

添加到收藏夹

Article Multidisciplinary Sciences

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene

Cristina Garcia-Fontana et al.

SCIENTIFIC REPORTS (2019)

添加到收藏夹

Review Chemistry, Medicinal

Profile of asfotase alfa in the treatment of hypophosphatasia: design, development, and place in therapy

Sasigarn A. Bowden et al.

DRUG DESIGN DEVELOPMENT AND THERAPY (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Genetic engineering a large animal model of human hypophosphatasia in sheep

Diarra K. Williams et al.

SCIENTIFIC REPORTS (2018)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia

B. L. Foster et al.

JOURNAL OF DENTAL RESEARCH (2017)

添加到收藏夹

Article Anatomy & Morphology

A distinctive patchy osteomalacia characterises Phospho1-deficient mice

Alan Boyde et al.

JOURNAL OF ANATOMY (2017)

添加到收藏夹

Article Physiology

Intravesicular Phosphatase PHOSPHO1 Function in Enamel Mineralization and Prism Formation

Mirali Pandya et al.

FRONTIERS IN PHYSIOLOGY (2017)

添加到收藏夹

Article Endocrinology & Metabolism

Overlapping functions of bone sialoprotein and pyrophosphate regulators in directing cementogenesis

M. Ao et al.

BONE (2017)

添加到收藏夹

Review Endocrinology & Metabolism

Alkaline Phosphatase and Hypophosphatasia

Jose Luis Millan et al.

CALCIFIED TISSUE INTERNATIONAL (2016)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Role of PHOSPHO1 in Periodontal Development and Function

L. E. Zweifler et al.

JOURNAL OF DENTAL RESEARCH (2016)

添加到收藏夹

Review Endocrinology & Metabolism

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment

Michael P. Whyte

NATURE REVIEWS ENDOCRINOLOGY (2016)

添加到收藏夹

Article Endocrinology & Metabolism

Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase

Kellen C. S. Gasque et al.

BONE (2015)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia

B. L. Foster et al.

JOURNAL OF DENTAL RESEARCH (2015)

添加到收藏夹

Article Endocrinology & Metabolism

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

Agnes Taillandier et al.

MOLECULAR GENETICS AND METABOLISM (2015)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Counter-regulatory phosphatases TNAP and NPP1 temporally regulate tooth root cementogenesis

Laura E. Zweifler et al.

INTERNATIONAL JOURNAL OF ORAL SCIENCE (2015)

添加到收藏夹

Review Endocrinology & Metabolism

The Rachitic Tooth

Brian L. Foster et al.

ENDOCRINE REVIEWS (2014)

添加到收藏夹

Review Dentistry, Oral Surgery & Medicine

Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

B. L. Foster et al.

JOURNAL OF DENTAL RESEARCH (2014)

添加到收藏夹

Article Endocrinology & Metabolism

The Role of Phosphatases in the Initiation of Skeletal Mineralization

Jose Luis Millan

CALCIFIED TISSUE INTERNATIONAL (2013)

添加到收藏夹

Article Endocrinology & Metabolism

Tooth Root Dentin Mineralization Defects in a Mouse Model of Hypophosphatasia

B. L. Foster et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2013)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Compounded PHOSPHO1/ALPL Deficiencies Reduce Dentin Mineralization

M. D. McKee et al.

JOURNAL OF DENTAL RESEARCH (2013)

添加到收藏夹

Article Endocrinology & Metabolism

Enzyme replacement prevents enamel defects in hypophosphatasia mice

Manisha C. Yadav et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2012)

添加到收藏夹

Article Medicine, General & Internal

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

添加到收藏夹

Article Multidisciplinary Sciences

A Model for the Ultrastructure of Bone Based on Electron Microscopy of Ion-Milled Sections

Elizabeth A. McNally et al.

PLOS ONE (2012)

添加到收藏夹

Article Endocrinology & Metabolism

Loss of Skeletal Mineralization by the Simultaneous Ablation of PHOSPHO1 and Alkaline Phosphatase Function: A Unified Model of the Mechanisms of Initiation of Skeletal Calcification

Manisha C. Yadav et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2011)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia

M. D. McKee et al.

JOURNAL OF DENTAL RESEARCH (2011)

添加到收藏夹

Article Endocrinology & Metabolism

Kinetic Analysis of Substrate Utilization by Native and TNAP-, NPP1-, or PHOSPHO1-Deficient Matrix Vesicles

Pietro Ciancaglini et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2010)

添加到收藏夹

Article Genetics & Heredity

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert et al.

BMC MEDICAL GENETICS (2009)

添加到收藏夹

Article Genetics & Heredity

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Amelie Reibel et al.

ORPHANET JOURNAL OF RARE DISEASES (2009)

添加到收藏夹

Article Endocrinology & Metabolism

Enzyme replacement therapy for murine hypophosphatasia

Jose Luis Millan et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2008)

添加到收藏夹

Article Endocrinology & Metabolism

Elevated skeletal osteopontin levels contribute to the hypophosphatasia phenotype in Akp2-/- mice

Dympna Harmey et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2006)

添加到收藏夹

Article Biochemistry & Molecular Biology

Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2

SJ Roberts et al.

BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2005)

添加到收藏夹

Article Cell Biology

Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone

M Murshed et al.

GENES & DEVELOPMENT (2005)

添加到收藏夹

Article Pathology

Concerted regulation of inorganic pyrophosphate and osteopontin by Akp2, Enpp1, and Ank -: An integrated model of the pathogenesis of mineralization disorders

D Harmey et al.

AMERICAN JOURNAL OF PATHOLOGY (2004)

添加到收藏夹

Article Pathology

Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice

HC Anderson et al.

AMERICAN JOURNAL OF PATHOLOGY (2004)

添加到收藏夹

Article Biochemistry & Molecular Biology

Human PHOSPH01 exhibits high specific phosphoethanolamine and phosphocholine phosphatase activities

SJ Roberts et al.

BIOCHEMICAL JOURNAL (2004)

添加到收藏夹

Article Dentistry, Oral Surgery & Medicine

Characterization of a family with dominant hypophosphatasia

JCC Hu et al.

EUROPEAN JOURNAL OF ORAL SCIENCES (2000)

添加到收藏夹

Article Endocrinology & Metabolism

Differential involvement of matrix vesicles during the initial and appositional mineralization processes in bone, dentin, and cementum

Y Takano et al.

BONE (2000)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.