2012
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred
Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred. Bone 2012, 50: 1100-1106. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.Peer-Reviewed Original ResearchConceptsVitamin D levelsIdiopathic hypercalciuriaKindred APTH levelsD levelsLong-term follow-upBilateral medullary nephrocalcinosisMild bone abnormalitiesSuppressed PTH levelsMutation c.Hereditary hypophosphatemic ricketsRenal phosphate-wastingRickets/osteomalaciaAssess treatment efficacyCompound heterozygous mutationsHHRH patientsKindred BKindred CSLC34A3 mutationsOral phosphateHeterozygous c.Medullary nephrocalcinosisHeterozygous mutationsNaPi-IIcHypercalciuria
2002
Cyclic-adenosine 3′,5′-monophosphate-stimulated c-fos gene transcription involves distinct calcium pathways in single β-cells
Schöfl C, Waring M, Bergwitz C, Arseniev L, von zur Mühlen A, Brabant G. Cyclic-adenosine 3′,5′-monophosphate-stimulated c-fos gene transcription involves distinct calcium pathways in single β-cells. Molecular And Cellular Endocrinology 2002, 186: 121-131. PMID: 11850128, DOI: 10.1016/s0303-7207(01)00609-8.Peer-Reviewed Original ResearchConceptsSerum response elementCa(2+)-influxC-fos gene transcriptionC-fos promoterCAMP response elementC-fosBeta-cellsModes of Ca(2+) entryGene transcriptionCa(2+) entryCa(2+C-fos mRNA expressionCa(2+) signalingForskolin-induced riseCa(2+)-free mediumForskolin-induced increaseCytosolic free calciumActivation of c-fos transcriptionCa(2+)-dependent pathwaysSingle B cellsCa(2+)-mediated mechanismsBeta-cell activityC-fos promoter activityC-fos transcriptionEffect of cAMP