PubRank

Harald Jüppner

Author PubWeight™ 156.13‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis. N Engl J Med 2008 9.19
2 Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003 8.87
3 Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease. J Am Soc Nephrol 2005 5.76
4 DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006 4.49
5 Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology 2004 3.89
6 Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers. Kidney Int 2003 3.75
7 Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women. J Bone Miner Res 2006 3.66
8 Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 2004 3.23
9 Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med 2010 2.55
10 Calcitriol and doxercalciferol are equivalent in controlling bone turnover, suppressing parathyroid hormone, and increasing fibroblast growth factor-23 in secondary hyperparathyroidism. Kidney Int 2010 2.31
11 Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res 2011 2.30
12 Pilot study of dietary phosphorus restriction and phosphorus binders to target fibroblast growth factor 23 in patients with chronic kidney disease. Nephrol Dial Transplant 2010 2.23
13 A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 2002 2.19
14 Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. J Clin Endocrinol Metab 2009 2.12
15 Ollier disease. Orphanet J Rare Dis 2006 2.11
16 A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. Am J Physiol Renal Physiol 2008 1.81
17 Parathyroid hormone and parathyroid hormone-related peptide, and their receptors. Biochem Biophys Res Commun 2005 1.78
18 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 2003 1.77
19 First- and second-generation immunometric PTH assays during treatment of hyperparathyroidism with cinacalcet HCl. Kidney Int 2005 1.74
20 Critical role of parathyroid hormone (PTH) receptor-1 phosphorylation in regulating acute responses to PTH. Proc Natl Acad Sci U S A 2013 1.68
21 Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 2004 1.68
22 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest 2005 1.68
23 Relationship between plasma fibroblast growth factor-23 concentration and bone mineralization in children with renal failure on peritoneal dialysis. J Clin Endocrinol Metab 2008 1.67
24 Mineral abnormalities and long-term graft function in pediatric renal transplant recipients: a role for FGF-23? Nephrol Dial Transplant 2011 1.57
25 Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCR. EMBO J 2006 1.56
26 GNAS locus and pseudohypoparathyroidism. Horm Res 2005 1.56
27 Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A 2004 1.46
28 Germline mutations affecting Gα11 in hypoparathyroidism. N Engl J Med 2013 1.43
29 A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 2005 1.43
30 Plasma FGF23 levels increase rapidly after acute kidney injury. Kidney Int 2013 1.42
31 Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2007 1.41
32 Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol 2002 1.40
33 Mechanisms of ligand binding to the parathyroid hormone (PTH)/PTH-related protein receptor: selectivity of a modified PTH(1-15) radioligand for GalphaS-coupled receptor conformations. Mol Endocrinol 2005 1.36
34 Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. J Clin Endocrinol Metab 2009 1.28
35 Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab 2010 1.28
36 Early skeletal and biochemical alterations in pediatric chronic kidney disease. Clin J Am Soc Nephrol 2011 1.25
37 Clinical case seminar: Fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia. J Clin Endocrinol Metab 2003 1.22
38 PHEX, FGF23, DMP1 and beyond. Curr Opin Nephrol Hypertens 2008 1.22
39 Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. J Am Soc Nephrol 2005 1.16
40 Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype. J Bone Miner Res 2005 1.12
41 Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 2008 1.11
42 The calcemic response to continuous parathyroid hormone (PTH)(1-34) infusion in end-stage kidney disease varies according to bone turnover: a potential role for PTH(7-84). J Clin Endocrinol Metab 2010 1.08
43 Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol (Oxf) 2007 1.07
44 Disordered FGF23 and mineral metabolism in children with CKD. Clin J Am Soc Nephrol 2013 1.05
45 Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. J Clin Endocrinol Metab 2013 1.05
46 Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone 2010 1.04
47 Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. J Clin Endocrinol Metab 2004 1.03
48 Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation. J Clin Endocrinol Metab 2003 1.03
49 Daily variability in mineral metabolites in CKD and effects of dietary calcium and calcitriol. Clin J Am Soc Nephrol 2012 1.02
50 Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc Natl Acad Sci U S A 2010 1.02
51 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet 2012 1.00
52 Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas. Endocrinology 2006 1.00
53 Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab 2008 1.00
54 Sevelamer controls parathyroid hormone-induced bone disease as efficiently as calcium carbonate without increasing serum calcium levels during therapy with active vitamin D sterols. J Am Soc Nephrol 2005 1.00
55 Effects of teriparatide retreatment in osteoporotic men and women. J Clin Endocrinol Metab 2009 0.99
56 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. J Clin Endocrinol Metab 2013 0.99
57 Similar predictive value of bone turnover using first- and second-generation immunometric PTH assays in pediatric patients treated with peritoneal dialysis. Kidney Int 2003 0.98
58 Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metab Disord 2008 0.97
59 Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet 2013 0.96
60 Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogs. J Biol Chem 2010 0.95
61 Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone 2009 0.95
62 Identification and characterization of two parathyroid hormone-like molecules in zebrafish. Endocrinology 2003 0.95
63 Identification and characterization of the murine and human gene encoding the tuberoinfundibular peptide of 39 residues. Endocrinology 2002 0.94
64 A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab 2004 0.94
65 Phosphate sensing. Adv Chronic Kidney Dis 2011 0.93
66 Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction. Hum Mutat 2011 0.92
67 Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism. J Bone Miner Res 2011 0.92
68 Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? J Bone Miner Res 2011 0.92
69 FGF23 and syndromes of abnormal renal phosphate handling. Adv Exp Med Biol 2012 0.92
70 New lessons from old assays: parathyroid hormone (PTH), its receptors, and the potential biological relevance of PTH fragments. Nephrol Dial Transplant 2002 0.91
71 The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome. J Bone Miner Metab 2005 0.91
72 Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. J Bone Miner Res 2010 0.90
73 Immunohistochemical detection of FGF-23 protein in tumors that cause oncogenic osteomalacia. Eur J Endocrinol 2003 0.89
74 Parathyroid hormone (PTH), PTH-derived peptides, and new PTH assays in renal osteodystrophy. Kidney Int 2003 0.89
75 Regulation of calcium homeostasis and bone metabolism in the fetus and neonate. Curr Opin Endocrinol Diabetes Obes 2010 0.89
76 Response of different PTH assays to therapy with sevelamer or CaCO3 and active vitamin D sterols. Pediatr Nephrol 2009 0.89
77 De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. J Clin Endocrinol Metab 2012 0.88
78 Phosphate homeostasis in CKD: report of a scientific symposium sponsored by the National Kidney Foundation. Am J Kidney Dis 2013 0.88
79 Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. Eur J Endocrinol 2010 0.88
80 Disorders of phosphate homeostasis and tissue mineralisation. Endocr Dev 2009 0.88
81 Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy. PLoS One 2011 0.87
82 Activation of a non-cAMP/PKA signaling pathway downstream of the PTH/PTHrP receptor is essential for a sustained hypophosphatemic response to PTH infusion in male mice. Endocrinology 2013 0.87
83 Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Proc Natl Acad Sci U S A 2012 0.87
84 TIP39/parathyroid hormone type 2 receptor signaling is a potent inhibitor of chondrocyte proliferation and differentiation. Am J Physiol Endocrinol Metab 2009 0.85
85 Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis. Eur J Med Genet 2012 0.84
86 Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics 2005 0.84
87 Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. Clin Endocrinol (Oxf) 2012 0.83
88 Lack of FGF23 response to acute changes in serum calcium and PTH in humans. J Clin Endocrinol Metab 2014 0.82
89 Identification and characterization of the zebrafish and fugu genes encoding tuberoinfundibular peptide 39. Endocrinology 2004 0.81
90 Insights from genetic disorders of phosphate homeostasis. Semin Nephrol 2013 0.81
91 Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the Galphas protein in human coronary artery smooth muscle cells. Arch Biochem Biophys 2006 0.81
92 Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. Endocrinology 2007 0.81
93 TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). J Bone Miner Res 2015 0.80
94 New PTH assays and renal osteodystrophy. Pediatr Nephrol 2004 0.80
95 The osteocyte in CKD: new concepts regarding the role of FGF23 in mineral metabolism and systemic complications. Bone 2012 0.80
96 FGF23 and mineral metabolism in the early post-renal transplantation period. Pediatr Nephrol 2013 0.79
97 Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. Eur J Endocrinol 2010 0.79
98 D2 dopamine receptor-induced sensitization of adenylyl cyclase type 1 is G alpha(s) independent. Neuropharmacology 2005 0.79
99 Expression of fgf23 and αklotho in developing embryonic tissues and adult kidney of the zebrafish, Danio rerio. Nephrol Dial Transplant 2012 0.78
100 Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature. Eur J Pediatr 2014 0.78
101 Synthesis and characterization of novel biotinylated carboxyl-terminal parathyroid hormone peptides that specifically crosslink to the CPTH-receptor. Peptides 2006 0.78
102 Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth. J Clin Endocrinol Metab 2015 0.78
103 Parathyroid hormone without parathyroid glands. Endocrinology 2005 0.77
104 Hypoparathyroidism and central diabetes insipidus: in search of the link. Eur J Pediatr 2014 0.77
105 Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. J Endocrinol 2011 0.77
106 Rapid detection of intact FGF-23 in tumor tissue from patients with oncogenic osteomalacia. Clin Chem 2008 0.77
107 The genetic basis of progressive osseous heteroplasia. N Engl J Med 2002 0.76
108 Special aspects of renal osteodystrophy in children. Semin Nephrol 2004 0.76
109 Hypoplastic Metatarsals--Beyond Cosmesis. N Engl J Med 2015 0.75
110 Nonclassic features of pseudohypoparathyroidism type 1A. Curr Opin Endocrinol Diabetes Obes 2016 0.75
111 Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood. Bone 2012 0.75
112 Dietary phosphate: the challenges of exploring its role in FGF23 regulation. Kidney Int 2013 0.75
113 Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab 2012 0.75
114 Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus. Mol Cell Probes 2004 0.75