| scholarly article | Q13442814 |
| P2093 | author name string | Eli Sprecher | |
| P2860 | cites work | Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse | Q21263192 |
| A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis | Q24302045 | ||
| Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation | Q24321247 | ||
| Mutation of the mouse klotho gene leads to a syndrome resembling ageing | Q24328782 | ||
| FGF23-mediated regulation of systemic phosphate homeostasis: is Klotho an essential player? | Q24653541 | ||
| Phosphate regulation of vascular smooth muscle cell calcification | Q28139908 | ||
| Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production | Q28213962 | ||
| Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis | Q28260847 | ||
| Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene | Q28260860 | ||
| Klotho converts canonical FGF receptor into a specific receptor for FGF23 | Q28272505 | ||
| The Klotho gene family and the endocrine fibroblast growth factors | Q28288742 | ||
| Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis | Q28292466 | ||
| How fibroblast growth factor 23 works | Q28301673 | ||
| Genetic evidence of serum phosphate-independent functions of FGF-23 on bone | Q28473286 | ||
| Circulating FGF-23 is regulated by 1alpha,25-dihydroxyvitamin D3 and phosphorus in vivo | Q28572995 | ||
| Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism | Q29620323 | ||
| A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. | Q30368115 | ||
| Calcinosis in rheumatic diseases | Q33216664 | ||
| The emerging role of phosphate in vascular calcification | Q33595584 | ||
| Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome | Q33660188 | ||
| Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis | Q33932297 | ||
| All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases | Q34183333 | ||
| Genetic defects in the human glycome | Q34534962 | ||
| Phosphatonins: a new class of phosphate-regulating proteins | Q34726820 | ||
| Tumoral calcinosis, diaphysitis, and hyperphosphatemia | Q71339318 | ||
| Chemical, microscopic, and ultrastructural characterization of the mineral deposits in tumoral calcinosis | Q71823121 | ||
| Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations | Q71859351 | ||
| Keratinocyte growth factor stimulation of gelatinase (matrix metalloproteinase-9) and plasminogen activator in histiotypic epithelial cell culture | Q72283633 | ||
| Head and neck manifestations of tumoral calcinosis | Q72320301 | ||
| Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis | Q72848779 | ||
| The syndrome of hyperostosis and hyperphosphatemia | Q72915480 | ||
| Evidence for an altered balance between matrix metalloproteinase-9 and its inhibitors in calcific aortic stenosis | Q73917114 | ||
| Cutaneous deposition diseases. Part II | Q77429585 | ||
| Two novel GALNT3 mutations in familial tumoral calcinosis | Q81245859 | ||
| A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis | Q81353302 | ||
| Doxycycline inhibits TGF-beta1-induced MMP-9 via Smad and MAPK pathways in human corneal epithelial cells | Q81435000 | ||
| Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis | Q81757273 | ||
| Matrix metalloproteinase inhibition attenuates aortic calcification | Q83323452 | ||
| Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. | Q40408400 | ||
| An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. | Q40482177 | ||
| Fibroblast growth factor 7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors | Q40488393 | ||
| FGF23 is processed by proprotein convertases but not by PHEX. | Q40532892 | ||
| Src/ERK but not phospholipase D is involved in keratinocyte growth factor-stimulated secretion of matrix metalloprotease-9 and urokinase-type plasminogen activator in SNU-16 human stomach cancer cell | Q40686589 | ||
| Proposal for a pathogenesis-based classification of tumoral calcinosis | Q41095263 | ||
| Diaphysitis in tumoral calcinosis syndrome | Q41273470 | ||
| Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. | Q41440783 | ||
| Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. | Q42254986 | ||
| Cardiovascular morbidity and mortality in community-dwelling elderly individuals with calcification of the fibrous skeleton of the base of the heart and aortosclerosis (The Cardiovascular Health Study). | Q43455882 | ||
| Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice | Q44142771 | ||
| Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders | Q45187805 | ||
| Serum phosphate levels and mortality risk among people with chronic kidney disease | Q45198981 | ||
| A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive | Q45345389 | ||
| A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification | Q45345392 | ||
| Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer | Q46135805 | ||
| Relationship between serum phosphate and cardiovascular risk factors in a large cohort of adult outpatients | Q46139637 | ||
| Relationship between circulating FGF23 and total body atherosclerosis in the community | Q46519355 | ||
| A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis | Q46609225 | ||
| Relation between serum phosphate level and cardiovascular event rate in people with coronary disease | Q46772376 | ||
| Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. | Q46790606 | ||
| Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak. | Q46849862 | ||
| A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. | Q47893477 | ||
| Tumoral Calcinosis--an Unrecognized Disease | Q49166778 | ||
| Hyperostosis and hyperphosphataemia syndrome: a diagnostic dilemma. | Q50762171 | ||
| Mineralized tissue cells are a principal source of FGF23. | Q51992228 | ||
| Cortical hyperostosis with hyperphosphatemia: A new syndrome? | Q52331453 | ||
| The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis. | Q52572405 | ||
| Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. | Q53964449 | ||
| DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. | Q54943458 | ||
| Fibroblast Growth Factor 23 (FGF23) Predicts Progression of Chronic Kidney Disease: The Mild to Moderate Kidney Disease (MMKD) Study | Q59575076 | ||
| NovelGALNT3Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations | Q61849366 | ||
| Tumoural lipocalcinosis: a clinicopathological study of 20 cases | Q67741465 | ||
| Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis | Q69803681 | ||
| Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity | Q70112057 | ||
| Dental lesions in tumoral calcinosis | Q70223088 | ||
| Cortical hyperostosis with hyperphosphatemia | Q70592632 | ||
| Ocular tumoral calcinosis. A clinicopathologic study | Q70999778 | ||
| Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein | Q35203230 | ||
| Treatment of cutaneous calcinosis in limited systemic sclerosis with minocycline | Q35552480 | ||
| Coronary calcification score: the coronary-risk impact factor | Q35672310 | ||
| Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. | Q35728669 | ||
| A case of familial tumoral calcinosis in a neonate and review of the literature. | Q35876095 | ||
| A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis | Q35925637 | ||
| Keratinocyte growth factor: effects on keratinocytes and mechanisms of action | Q36023268 | ||
| The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23. | Q36391486 | ||
| Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review | Q36404714 | ||
| Mendelian disorders deserve more attention | Q36420704 | ||
| Calcium, calcium regulatory hormones, and calcimimetics: impact on cardiovascular mortality | Q36432071 | ||
| Regulation of phosphate homeostasis by the phosphatonins and other novel mediators | Q36739668 | ||
| Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease | Q36832542 | ||
| The emerging role of the fibroblast growth factor-23-klotho axis in renal regulation of phosphate homeostasis | Q36860289 | ||
| Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis | Q36956055 | ||
| Endocrine functions of bone in mineral metabolism regulation. | Q36982323 | ||
| FGFR3 and FGFR4 do not mediate renal effects of FGF23. | Q36985772 | ||
| Novel regulators of phosphate homeostasis and bone metabolism | Q36988379 | ||
| alpha-Klotho: a regulator that integrates calcium homeostasis | Q37045462 | ||
| Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation | Q37118591 | ||
| Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression | Q37210780 | ||
| A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features | Q37216979 | ||
| PHEX, FGF23, DMP1 and beyond | Q37228146 | ||
| Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis | Q37327002 | ||
| The Klotho gene family as a regulator of endocrine fibroblast growth factors | Q37343638 | ||
| The interplay of matrix metalloproteinases, morphogens and growth factors is necessary for branching of mammary epithelial cells. | Q37448181 | ||
| GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity | Q38353574 | ||
| Tumoral calcinosis associated with early onset periodontitis | Q38758095 | ||
| Tumoral calcinosis in Uganda | Q38895524 | ||
| Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred | Q39482366 | ||
| Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism | Q39703653 | ||
| Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review | Q39710729 | ||
| Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome | Q39862297 | ||
| Familial tumoral calcinosis: a forty-year follow-up on one family | Q39998095 | ||
| 1alpha,25-Dihydroxyvitamin D3 upregulates FGF23 gene expression in bone: the final link in a renal-gastrointestinal-skeletal axis that controls phosphate transport | Q40397501 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Tumoral calcinosis | Q7852683 |
| P304 | page(s) | 652-660 | |
| P577 | publication date | 2009-10-29 | |
| P1433 | published in | Journal of Investigative Dermatology | Q3186921 |
| P1476 | title | Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification | |
| P478 | volume | 130 |
| Q43563612 | A boggy swelling of the scalp |
| Q38718110 | An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function. |
| Q43071504 | Bilateral dystrophic calcinosis circumscripta in a cynomolgus macaque (Macaca fascicularis). |
| Q28596315 | Calcium orthophosphates (CaPO4): occurrence and properties |
| Q27027606 | Calcium orthophosphates: occurrence, properties, biomineralization, pathological calcification and biomimetic applications |
| Q50746458 | Correlation of polypeptide N-acetylgalactosamine transferases-3 and -6 to different stages of endometriosis. |
| Q35911423 | Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene |
| Q52651548 | Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation. |
| Q52743002 | Dietary phosphate modifies lifespan in Drosophila. |
| Q26865249 | Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification |
| Q37022085 | Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice |
| Q90066417 | Effects of parathyroidectomy on tumoral calcinosis in uremic patients with secondary hyperparathyroidism |
| Q48061459 | Familial tumoral calcinosis |
| Q38453471 | Familial tumoral calcinosis in two Chinese patients: a case series |
| Q38353654 | Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis |
| Q34631633 | Genetic determinants of phosphate response in Drosophila |
| Q38060079 | Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum |
| Q35533372 | Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. |
| Q57216982 | Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms |
| Q37401244 | Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis |
| Q36986492 | Mineralization/anti-mineralization networks in the skin and vascular connective tissues |
| Q36054790 | Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis |
| Q37623356 | Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum |
| Q41859993 | PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS. |
| Q58591880 | Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development |
| Q36174964 | Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ). |
| Q34168361 | Roles of major facilitator superfamily transporters in phosphate response in Drosophila |
| Q34555360 | Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing |
| Q26852624 | Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism |
| Q35851604 | Striking pathology gold: a singular experience with daily reverberations: sinonasal hemangiopericytoma (glomangiopericytoma) and oncogenic osteomalacia |
| Q35215295 | The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development |
| Q36189282 | The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene |
| Q33987647 | The role of mucin-type O-glycans in eukaryotic development |
| Q36946026 | Tumoral Calcinosis as an Initial Complaint of Juvenile-Onset Amyopathic Dermatomyositis |
| Q35155738 | Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis |
| Q46556036 | Tumoral calcinosis: sonographic sedimentation sign |
| Q35850965 | Vitamin D safety and requirements |
| Q36750182 | Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum |
| Q30427003 | Zebrafish: a model system to study heritable skin diseases |
Search more.