Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

Lancet

Volumn 360, Issue 9334, 2002, Pages 692-694

  Watanabe, Sumiyo ^a   Fukumoto, Seiji ^a,b   Chang, Hangil ^b   Takeuchi, Yasuhiro ^a   Hasegawa, Yukihiro ^c   Okazaki, Ryo ^d   Chikatsu, Noriko ^e   Fujita, Toshiro ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^d TEIKYO UNIVERSITY   (Japan)

^e Hitachi   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; COLECALCIFEROL; PARATHYROID HORMONE; POTASSIUM CHANNEL; TRICHLORMETHIAZIDE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EXON; EXTRACELLULAR CALCIUM; FEMALE; GENE MUTATION; HUMAN; HYPOCALCEMIA; MALE; PARATHYROID HORMONE RELEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0037206034     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)09842-2     Document Type: Article

References (5)

1. Birkenhager R., Otto E., Schurmann M.J., et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 29:2001;310-314.
2. Brown E.M., MacLeod R.J. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev. 81:2001;239-297.
3. Pearce S.H., Williamson C., Kifor O., et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. 335:1996;1115-1122.
4. Okazaki R., Chikatsu N., Nakatsu M., et al. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 84:1999;363-366.
5. 2+ receptor. FEBS Lett. 448:1999;180-184.