Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Calciphylaxie

Calciphylaxie ist eine in der Urämie auftretende schwere progrediente Verkalkung der kleinen Gefäße. Die Erkrankung hat ihre Ursache in endogenen und exogenen Faktoren. Zu den endogenen Faktoren zählen einige genetische Varianten. Der wichtigste exogene Faktor scheinen Vitamin K-Antagonisten zu sein.

Gliederung

Vaskuläre Kalzifikation
Calciphylaxie
FGF23
NT5E
VDR
Generalisierte arterielle Verkalkung bei Kleinkindern
Multiple Kalzifikation der Gelenke und Arterien

Referenzen:

1.

Shah S et al. (2006) The molecular basis of vitamin D receptor and beta-catenin crossregulation.

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2.

Froicu M et. al. (2006) Vitamin D receptor is required to control gastrointestinal immunity in IL-10 knockout mice.

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3.

Liu PT et al. (2006) Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response.

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4.

Rothe H et al. (2017) Ecto-5' -Nucleotidase CD73 (NT5E), vitamin D receptor and FGF23 gene polymorphisms may play a role in the development of calcific uremic arteriolopathy in dialysis patients - Data from the German Calciphylaxis Registry.

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5.

Misumi Y et al. (1990) Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form.

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6.

Boyle JM et al. (1988) Assignment of ecto-5'-nucleotidase to human chromosome 6.

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7.

Adrian K et al. (2000) Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells.

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8.

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9.

Castrop H et al. (2004) Impairment of tubuloglomerular feedback regulation of GFR in ecto-5'-nucleotidase/CD73-deficient mice.

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10.

St Hilaire C et al. (2011) NT5E mutations and arterial calcifications.

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11.

Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.

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12.

Kato K et al. (2006) Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.

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13.

Uitterlinden AG et al. (2004) Genetics and biology of vitamin D receptor polymorphisms.

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14.

None (1954) Heredo-familial vascular and articular calcification.

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15.

Morrison NA et al. (1992) Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin.

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16.

Saijo T et al. (1991) A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.

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17.

Szpirer J et al. (1991) The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7.

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18.

Kelly PJ et al. (1991) Genetic factors in bone turnover.

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19.

Malloy PJ et al. (1990) The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.

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20.

Sone T et al. (1990) A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3.

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21.

Ritchie HH et al. (1989) An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.

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22.

Takeda E et al. (1989) Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy.

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23.

Faraco JH et al. (1989) ApaI dimorphism at the human vitamin D receptor gene locus.

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24.

Baker AR et al. (1988) Cloning and expression of full-length cDNA encoding human vitamin D receptor.

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25.

Hughes MR et al. (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.

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26.

Fraher LJ et al. (1986) Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia.

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27.

Pocock NA et al. (1987) Genetic determinants of bone mass in adults. A twin study.

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28.

Hustmyer FG et al. (1994) Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus.

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29.

Pedeutour F et al. (1994) Mapping of the 12q12-q22 region with respect to tumor translocation breakpoints.

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30.

Morrison NA et al. (1994) Prediction of bone density from vitamin D receptor alleles.

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31.

Kristjansson K et al. (1993) Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.

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32.

Lim SK et al. (1995) Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans.

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33.

Lin NU et al. (1996) A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.

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34.

Houston LA et al. (1996) Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: studies in a UK population.

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35.

Garnero P et al. (1996) Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: the OFELY Study.

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36.

Van Maldergem L et al. (1996) Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.

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37.

Whitfield GK et al. (1996) Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.

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38.

Malloy PJ et al. (1997) Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

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39.

Carling T et al. (1997) Vitamin D receptor alleles b, a, and T: risk factors for sporadic primary hyperparathyroidism (HPT) but not HPT of uremia or MEN 1.

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40.

Carling T et al. (1997) Vitamin D receptor polymorphisms correlate to parathyroid cell function in primary hyperparathyroidism.

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41.

Sainz J et al. (1997) Vitamin D-receptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent.

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42.

None (1997) Vitamin D-receptor genotypes and bone density.

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43.

Miyamoto K et al. (1997) Structural organization of the human vitamin D receptor chromosomal gene and its promoter.

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44.

Uitterlinden AG et al. (1997) Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee.

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45.

Yoshizawa T et al. (1997) Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.

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46.

Suarez F et al. (1997) Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life.

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47.

Mechica JB et al. (1997) A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets.

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48.

Zhu W et al. (1998) Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.

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49.

Gennari L et al. (1998) Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density.

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50.

Carling T et al. (1998) Vitamin D receptor (VDR) and parathyroid hormone messenger ribonucleic acid levels correspond to polymorphic VDR alleles in human parathyroid tumors.

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51.

Park BS et al. (1999) Vitamin D receptor polymorphism is associated with psoriasis.

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52.

Tao C et al. (1998) Vitamin D receptor alleles predict growth and bone density in girls.

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53.

Correa P et al. (1999) The vitamin D receptor (VDR) start codon polymorphism in primary hyperparathyroidism and parathyroid VDR messenger ribonucleic acid levels.

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54.

Ferrari S et al. (1999) Bone mineral mass and calcium and phosphate metabolism in young men: relationships with vitamin D receptor allelic polymorphisms.

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55.

Ensrud KE et al. (1999) Vitamin D receptor gene polymorphisms and the risk of fractures in older women. For the Study of Osteoporotic Fractures Research Group.

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56.

Jurutka PW et al. (2000) The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB.

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57.

Lorentzon M et al. (2000) Vitamin D receptor gene polymorphism is associated with birth height, growth to adolescence, and adult stature in healthy caucasian men: a cross-sectional and longitudinal study.

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58.

Ban Y et al. (2000) Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population.

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59.

Uitterlinden AG et al. (2001) Interaction between the vitamin D receptor gene and collagen type Ialpha1 gene in susceptibility for fracture.

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60.

Miller J et al. (2001) Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.

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61.

Makishima M et al. (2002) Vitamin D receptor as an intestinal bile acid sensor.

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62.

Donohue MM et al. (2002) Rickets in VDR null mice is secondary to decreased apoptosis of hypertrophic chondrocytes.

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63.

Chen H et al. (2003) Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance.

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64.

Kitagawa H et al. (2003) The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome.

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65.

Zhang C et al. (2003) Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing.

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66.

Motohashi Y et al. (2003) Vitamin D receptor gene polymorphism affects onset pattern of type 1 diabetes.

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67.

Colin EM et al. (2003) Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk.

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68.

Selvaraj P et al. (2004) Vitamin D receptor gene variants of BsmI, ApaI, TaqI, and FokI polymorphisms in spinal tuberculosis.

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69.

Nejentsev S et al. (2004) Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene.

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70.

Wittke A et al. (2004) Vitamin D receptor-deficient mice fail to develop experimental allergic asthma.

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71.

Pálmer HG et al. (2004) The transcription factor SNAIL represses vitamin D receptor expression and responsiveness in human colon cancer.

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72.

Bornman L et al. (2004) Vitamin D receptor polymorphisms and susceptibility to tuberculosis in West Africa: a case-control and family study.

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73.

Xiong DH et al. (2005) Vitamin D receptor gene polymorphisms are linked to and associated with adult height.

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74.

Healy KD et al. (2005) Parathyroid hormone decreases renal vitamin D receptor expression in vivo.

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75.

Garnero P et al. (2005) Vitamin D receptor gene polymorphisms are associated with the risk of fractures in postmenopausal women, independently of bone mineral density.

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76.

Sabbagh Y et al. (2005) Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes.

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77.

Peña C et al. (2005) E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations.

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78.

d'Alésio A et al. (2005) Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein-DNA complex formation and are associated with height and vitamin D status in adolescent girls.

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79.

Fang Y et al. (2005) Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.

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80.

Uitterlinden AG et al. (2006) The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis.

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81.

Chen H et al. (2006) Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein.

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82.

Masuyama R et al. (2006) Vitamin D receptor in chondrocytes promotes osteoclastogenesis and regulates FGF23 production in osteoblasts.

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83.

Turunen MM et al. (2007) Selective use of multiple vitamin D response elements underlies the 1 alpha,25-dihydroxyvitamin D3-mediated negative regulation of the human CYP27B1 gene.

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84.

Arita K et al. (2008) A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

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85.

Yu S et al. (2008) The vitamin D receptor is required for iNKT cell development.

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86.

Chun RF et al. (2008) Back to the future: a new look at 'old' vitamin D.

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87.

Quigley DA et al. (2009) Genetic architecture of mouse skin inflammation and tumour susceptibility.

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88.

Rowe PS et al. (1992) Three DNA markers for hypophosphataemic rickets.

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89.

Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.

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90.

Yamashita T et al. (2000) Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain.

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91.

None (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

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92.

White KE et al. (2001) The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting.

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93.

Shimada T et al. (2001) Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia.

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94.

None (2001) FGF23, hypophosphatemia, and rickets: has phosphatonin been found?

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95.

Bowe AE et al. (2001) FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate.

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96.

Shimada T et al. (2002) Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo.

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97.

Yamazaki Y et al. (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia.

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98.

Jonsson KB et al. (2003) Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.

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99.

Shimada T et al. (2004) Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism.

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100.

Benet-Pagès A et al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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101.

Araya K et al. (2005) A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.

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102.

Chefetz I et al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

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103.

Chen G et al. (2018) α-Klotho is a non-enzymatic molecular scaffold for FGF23 hormone signalling.

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104.

Wikipedia Artikel

Wikipedia DE (Calciphylaxie) external link
Update: 14. August 2020
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