Jüppner H - Search Results

1

Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.

Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky IB, Tebben P, Jüppner H. Milioto A, et al. Among authors: juppner h. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1610-e1619. doi: 10.1210/clinem/dgab830. J Clin Endocrinol Metab. 2022. PMID: 34791361 Free PMC article.

2

Diminished linear growth during intermittent calcitriol therapy in children undergoing CCPD.

Kuizon BD, Goodman WG, Jüppner H, Boechat I, Nelson P, Gales B, Salusky IB. Kuizon BD, et al. Among authors: juppner h. Kidney Int. 1998 Jan;53(1):205-11. doi: 10.1046/j.1523-1755.1998.00724.x. Kidney Int. 1998. PMID: 9453020 Free article.

3

Calcium-sensing by parathyroid glands in secondary hyperparathyroidism.

Goodman WG, Veldhuis JD, Belin TR, Van Herle AJ, Juppner H, Salusky IB. Goodman WG, et al. Among authors: juppner h. J Clin Endocrinol Metab. 1998 Aug;83(8):2765-72. doi: 10.1210/jcem.83.8.4999. J Clin Endocrinol Metab. 1998. PMID: 9709944

4

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. Jüppner H, et al. Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803. doi: 10.1073/pnas.95.20.11798. Proc Natl Acad Sci U S A. 1998. PMID: 9751745 Free PMC article.

5

A novel immunoradiometric assay detects full-length human PTH but not amino-terminally truncated fragments: implications for PTH measurements in renal failure.

John MR, Goodman WG, Gao P, Cantor TL, Salusky IB, Jüppner H. John MR, et al. Among authors: juppner h. J Clin Endocrinol Metab. 1999 Nov;84(11):4287-90. doi: 10.1210/jcem.84.11.6236. J Clin Endocrinol Metab. 1999. PMID: 10566687

6

Impaired growth, delayed ossification, and reduced osteoclastic activity in the growth plate of calcium-supplemented rats with renal failure.

Sanchez CP, Kuizon BD, Abdella PA, Jüppner H, Salusky IB, Goodman WG. Sanchez CP, et al. Among authors: juppner h. Endocrinology. 2000 Apr;141(4):1536-44. doi: 10.1210/endo.141.4.7436. Endocrinology. 2000. PMID: 10746661

7

Pseudohypoparathyroidism. New insights into an old disease.

Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Endocrinol Metab Clin North Am. 2000 Sep;29(3):569-89. doi: 10.1016/s0889-8529(05)70151-1. Endocrinol Metab Clin North Am. 2000. PMID: 11033761 Review.

8

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Bastepe M, Lane AH, Jüppner H. Bastepe M, et al. Among authors: juppner h. Am J Hum Genet. 2001 May;68(5):1283-9. doi: 10.1086/320117. Epub 2001 Apr 9. Am J Hum Genet. 2001. PMID: 11294659 Free PMC article.

9

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.

Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. Bastepe M, et al. Among authors: juppner h. Hum Mol Genet. 2001 Jun 1;10(12):1231-41. doi: 10.1093/hmg/10.12.1231. Hum Mol Genet. 2001. PMID: 11406605

10

New lessons from old assays: parathyroid hormone (PTH), its receptors, and the potential biological relevance of PTH fragments.

Goodman WG, Salusky IB, Jüppner H. Goodman WG, et al. Among authors: juppner h. Nephrol Dial Transplant. 2002 Oct;17(10):1731-6. doi: 10.1093/ndt/17.10.1731. Nephrol Dial Transplant. 2002. PMID: 12270977 Review. No abstract available.

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