Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK - Wikidata - wikimedia - TriplyDB

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

http://www.wikidata.org/entity/Q24533484

about

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH Mutations in ANKH cause chondrocalcinosis The role of structural genes in the pathogenesis of osteoarthritic disorders Phosphate/pyrophosphate and MV-related proteins in mineralisation: discoveries from mouse models Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management Bisphosphonates: from bench to bedside Genetics and mechanisms of crystal deposition in calcium pyrophosphate deposition disease Hypoxia-inducible factor regulation of ANK expression in nucleus pulposus cells: possible implications in controlling dystrophic mineralization in the intervertebral disc Progressive ankylosis (Ank) protein is expressed by neurons and Ank immunohistochemical reactivity is increased by limbic seizures Role of the progressive ankylosis gene (ank) in cartilage mineralization.Dental Anomalies Associated with Craniometaphyseal Dysplasia.Craniometaphyseal Dysplasia: A review and novel oral manifestation Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)Molecular-pathogenetic classification of genetic disorders of the skeleton.Physiologic and pathologic functions of the NPP nucleotide pyrophosphatase/phosphodiesterase family focusing on NPP1 in calcification A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia The Use of Patient-Specific Induced Pluripotent Stem Cells (iPSCs) to Identify Osteoclast Defects in Rare Genetic Bone Disorders Progressive ankylosis protein (ANK) in osteoblasts and osteoclasts controls bone formation and bone remodeling.Biochemical and genetic analysis of ANK in arthritis and bone disease The progressive ankylosis protein regulates cementum apposition and extracellular matrix composition.Phosphate: known and potential roles during development and regeneration of teeth and supporting structures.Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome.Activation of nuclear factor-kappa B accelerates vascular calcification by inhibiting ankylosis protein homolog expression Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia Regenerating the periodontium: is there a magic formula?Inorganic pyrophosphate generation by transforming growth factor-beta-1 is mainly dependent on ANK induction by Ras/Raf-1/extracellular signal-regulated kinase pathways in chondrocytes.Dental abnormalities in a mouse model for craniometaphyseal dysplasia.Matrix stiffness promotes cartilage endplate chondrocyte calcification in disc degeneration via miR-20a targeting ANKH expression.Calcium signalling and calcium transport in bone disease.FGF2 stimulation of the pyrophosphate-generating enzyme, PC-1, in pre-osteoblast cells is mediated by RUNX2.Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis.Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia.Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.Can acetazolamide be used to treat diseases involving increased bone mineral density?Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Inflammation: a culprit for vascular calcification in atherosclerosis and diabetes.Potential role of PC-1 expression and pyrophosphate elaboration in the molecular etiology of the FGFR-associated craniosynostosis syndromes.FGF2 alters expression of the pyrophosphate/phosphate regulating proteins, PC-1, ANK and TNAP, in the calvarial osteoblastic cell line, MC3T3E1(C4).

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P2860

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

http://www.wikidata.org/entity/Q24533484

description

2001 nî lūn-bûn

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2001 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2001 թվականի հունիսին հրատարակված գիտական հոդված

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2001年の論文

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2001年学术文章

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Autosomal dominant craniometap ...... the transmembrane protein ANK

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Autosomal dominant craniometap ...... the transmembrane protein ANK

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Autosomal dominant craniometap ...... the transmembrane protein ANK

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Autosomal dominant craniometap ...... the transmembrane protein ANK

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Autosomal dominant craniometap ...... the transmembrane protein ANK

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American Journal of Human Genetics

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Autosomal dominant craniometap ...... the transmembrane protein ANK

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A Sommer

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B R Olsen

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C M Raposo do Amaral

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C Santanna

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D K Grange

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E Reichenberger

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H Hamersma

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J B Mulliken

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J Gardner

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P2860

Role of the mouse ank gene in control of tissue calcification and arthritis

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

The gene for cherubism maps to chromosome 4p16.

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Progressive ankylosis, a new skeletal mutation in the mouse

Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects.

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.

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10.1086/320612

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6

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68

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11326338

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transmembrane protein

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