Hormone resistance at the clinical level

Science Signaling

Volumn 3, Issue 143, 2010, Pages

  Hochberg, Ze'ev ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; CALCIUM; PARATHYROID HORMONE; VASOPRESSIN; VASOPRESSIN RECEPTOR; CALCITRIOL RECEPTOR; HORMONE; PARATHYROID HORMONE RECEPTOR 1; STEROID 5ALPHA REDUCTASE; VITAMIN D;

ALBRIGHT SYNDROME; CLINICAL FEATURE; CONFERENCE PAPER; DRUG MEGADOSE; GENE MUTATION; HORMONE RESISTANCE; HORMONE SYNTHESIS; HUMAN; MALE PSEUDOHERMAPHRODITISM; PHENOTYPE; PRIORITY JOURNAL; RICKETS; SIGNAL TRANSDUCTION; ADOLESCENT; ALOPECIA; ARTICLE; CHILD; CLASSIFICATION; ENDOCRINE DISEASE; ENZYMOLOGY; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; SEX DIFFERENTIATION DISORDER;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; 46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ALOPECIA; AQUAPORIN 2; CALCIUM; CHILD; CHILD, PRESCHOOL; ENDOCRINE SYSTEM DISEASES; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; HORMONES; HUMANS; MALE; MUTATION; PHENOTYPE; RECEPTOR, PARATHYROID HORMONE, TYPE 1; RECEPTORS, CALCITRIOL; RICKETS; VITAMIN D;

EID: 77958037209     PISSN: 19450877     EISSN: 19379145     Source Type: Journal    
DOI: 10.1126/scisignal.3143pt1     Document Type: Conference Paper

References (16)

1. Z. Hochberg, A. Benderli, J. Levy, P. Vardi, Y. Weisman, T. Chen, D. Feldman, 1,25-Dihydroxyvitamin D resistance, rickets, and alopecia. Am. J. Med.77, 805-811 (1984).
2. D. Feldman, T. Chen, C. Cone, M. Hirst, S. Shani, A. Benderli, Z. Hochberg, Vitamin D resistant rickets with alopecia: Cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3. J. Clin. Endocrinol. Metab.55, 1020-1022 (1982).
3. P. J. Malloy, Z. Hochberg, D. Tiosano, J. W. Pike, M. R. Hughes, D. Feldman, The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J. Clin. Invest. 86, 2071-2079 (1990).
4. H. H. Ritchie, M. R. Hughes, E. T. Thompson, P. J. Malloy, Z. Hochberg, D. Feldman, J.W. Pike, B.W. O'Malley, An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. Proc. Natl. Acad. Sci. U.S.A. 86, 9783-9787 (1989).
5. Z. Hochberg, D. Tiosano, L. Even, Calcium therapy for calcitriol-resistant rickets. J. Pediatr. 121, 803-808 (1992).
6. Y. Weisman, I. Bab, D. Gazit, Z. Spirer, M. Jaffe, Z. Hochberg, Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am. J. Med. 83, 984-990 (1987).
7. P. J. Malloy, Z. Hochberg, J. W. Pike, D. Feldman, Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J. Clin. Endocrinol. Metab.68, 263-269 (1989).
8. M. R. Hughes, P. J. Malloy, D. G. Kieback, R. A. Kesterson, J.W. Pike, D. Feldman, B.W. O'Malley, Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science242, 1702-1705 (1988).
9. R. Bergman, R. Schein-Goldshmid, Z. Hochberg, O. Ben-Izhak, E. Sprecher, The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: A comparative clinical, histologic, and immunohistochemical study. Arch. Dermatol.141, 343-351 (2005).
10. A. Zlotogorski, Z. Hochberg, P. Mirmirani, A. Metzker, D. Ben-Amitai, A. Martinez-Mir, A. A. Panteleyev, A. M. Christiano, Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch. Dermatol.139, 1591-1596 (2003).
11. R. A. Richman, E. M. Post, D. D. Notman, Z. Hochberg, A. M. Moses, Simplifying the diagnosis of diabetes insipidus in children. Am. J. Dis. Child. 135, 839-841 (1981).
12. B. Brenner, U. Seligsohn, Z. Hochberg, Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus. J. Clin. Endocrinol. Metab.67, 191-193 (1988).
13. S. Nielsen, B. L. Smith, E. I. Christensen, P. Agre, Distribution of the aquaporin CHIP in secretory and resorptive epithelia and capillary endothelia. Proc. Natl. Acad. Sci. U.S.A. 90, 7275-7279 (1993).
14. Z. Hochberg, A. Van Lieburg, L. Even, B. Brenner, N. Lanir, B. A. Van Oost, N. V. Knoers, Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation. J. Clin. Endocrinol. Metab.82, 686-689 (1997).
15. Z. Hochberg, R. Chayen, N. Reiss, Z. Falik, A. Makler, M. Munichor, A. Farkas, H. Goldfarb, N. Ohana, O. Hiort, Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. J. Clin. Endocrinol. Metab.81, 2821-2827 (1996).
16. F. Albright, P. Smith, W. Parson, Pseudohypoparathyroidism - An example of "Seabright-Bantam syndrome." Endocrinology 30, 922-932 (1942).