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Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

Autor: S. Vadher, S. M. Farrow, J. L. H. O'riordan, F. J. Cockerill, A. R. Rut, Martin Hewison, N S Hawa, J. W. Pike

Publikováno v: Clinical Endocrinology. 45:85-92

Summary OBJECTIVE Hereditary vitamin D resistant rickets (HVDRR) is an autosomal recessive disorder resulting in target organ resistance to the actions of 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). In many cases, this disorder has been shown to be due t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ca89fdb1a7927cf4821528770224eb9
https://doi.org/10.1111/j.1365-2265.1996.tb02064.x

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Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets

Autor: Nasim Yousaf, N S Hawa, Martin Hewison, S. M. Farrow, J. L. H. O'riordan, Fiona J. Cockerill

Publikováno v: The Journal of clinical endocrinology and metabolism. 82(9)

Hereditary vitamin D resistant rickets has been associated with a number of mutations within the DNA and ligand binding domains of vitamin D receptors (VDR). The aim of our study was to identify and characterize the causative mutations in three kindr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a29b9b95d20bfa897fdcc9d73c0ab426
https://pubmed.ncbi.nlm.nih.gov/9284761

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Functional analysis of vitamin D response elements in the parathyroid hormone gene and a comparison with the osteocalcin gene

Autor: J. L. H. O'riordan, N S Hawa, S. M. Farrow

Publikováno v: Biochemical and biophysical research communications. 228(2)

We have previously localised two putative vitamin D response elements (VDRE) in the bovine parathyroid hormone (PTH) gene to within -485 to -452 and -451 to -348 base pairs (bp). To confirm the functional significance of these elements, a series of r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e041beddc4736035f3b8ef9a4b8d518
https://pubmed.ncbi.nlm.nih.gov/8920918

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Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

Autor: N S, Hawa, F J, Cockerill, S, Vadher, M, Hewison, A R, Rut, J W, Pike, J L, O'Riordan, S M, Farrow

Publikováno v: Clinical endocrinology. 45(1)

Hereditary vitamin D resistant rickets (HVDRR) is an autosomal recessive disorder resulting in target organ resistance to the actions of 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). In many cases, this disorder has been shown to be due to mutations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5746ae9ae42439821fc0141e865abb0b
https://pubmed.ncbi.nlm.nih.gov/8796143

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Translational regulation of parathyroid hormone gene expression and RNA: protein interactions

Autor: S. M. Farrow, N S Hawa, Shilpa Vadher, J. L. H. O'riordan

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 11(6)

The aim of this study was to investigate the mechanism by which translation of parathyroid hormone (PTH) mRNA is regulated with regard to the subcellular distribution of PTH mRNA and RNA:protein interactions. Sucrose density ultracentrifugation of RN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8a08fb1eb313c8ea527a82fb9283f6
https://pubmed.ncbi.nlm.nih.gov/8725171

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Vitamin D Receptor (VDR) Interactions with Vitamin D3 Response Elements (VDRE) in the Parathyroid Hormone (PTH) and Osteocalcin Genes are Different

Autor: S. Vadher, S. M. Farrow, J. L. H. O'riordan, N. S. Hawa

Publikováno v: Vitamin D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::709e7eda3e9004be9d7d32891b042773
https://doi.org/10.1515/9783110882513-106

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Binding of 1,25-dihydroxyvitamin D3 receptors to the 5'-flanking region of the bovine parathyroid hormone gene

Autor: N S Hawa, J. L. H. O'riordan, S M Farrow

Publikováno v: The Journal of endocrinology. 142(1)

To further define the binding site for receptors for 1,25(OH)2D3 (VDR) in the bovine PTH gene and to study the interactions of transcription factors with VDR, Southwestern and gel shift assays were used. Data from the former indicated binding of VDR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfd4df6e01f7cbcf49a19e41ce84db3
https://pubmed.ncbi.nlm.nih.gov/7964284

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Post-transcriptional regulation of bovine parathyroid hormone synthesis

Autor: S M Farrow, N S Hawa, J. L. H. O'riordan

Publikováno v: Journal of molecular endocrinology. 10(1)

Incubation of bovine parathyroid cells for 48 h in 0·4 mmol calcium/l had no significant effect on steady-state preproparathyroid hormone (preproPTH) mRNA levels when compared with cells incubated in 1·0 mmol calcium/l, but low calcium concentratio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::154d8119c38990912d800c0930674fc4
https://pubmed.ncbi.nlm.nih.gov/8452638

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