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Literature DB >> 14660740

Dominant-negative diabetes insipidus and other endocrinopathies.

Abstract

Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2003 PMID： 14660740 PMCID： PMC281655 DOI： 10.1172/JCI20441

Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808

8 in total

1. Synthesis, transport, and release of posterior pituitary hormones.

Authors: M J Brownstein; J T Russell; H Gainer
Journal: Science Date: 1980-01-25 Impact factor: 47.728

2. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

Authors: J D Cogan; J A Phillips; S S Schenkman; R D Milner; N Sakati
Journal: J Clin Endocrinol Metab Date: 1994-11 Impact factor: 5.958

3. Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting.

Authors: M Nijenhuis; R Zalm; J P Burbach
Journal: J Biol Chem Date: 1999-07-23 Impact factor: 5.157

4. Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

Authors: Lindsay McGuinness; Charalambos Magoulas; Abdul K Sesay; Kathleen Mathers; Danielle Carmignac; Jean-Baptiste Manneville; Helen Christian; John A Phillips; Iain C A F Robinson
Journal: Endocrinology Date: 2003-02 Impact factor: 4.736

5. A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.

Authors: Theron A Russell; Masafumi Ito; Mika Ito; Richard N Yu; Fred A Martinson; Jeffrey Weiss; J Larry Jameson
Journal: J Clin Invest Date: 2003-12 Impact factor: 14.808

6. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.

Authors: Robin C C Ryther; Lindsay M McGuinness; John A Phillips; Chanda T Moseley; Charalambos B Magoulas; Iain C A F Robinson; James G Patton
Journal: Hum Genet Date: 2003-04-29 Impact factor: 4.132

7. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.

Authors: H Nagasaki; M Ito; H Yuasa; H Saito; M Fukase; K Hamada; E Ishikawa; H Katakami; Y Oiso
Journal: J Clin Endocrinol Metab Date: 1995-04 Impact factor: 5.958

8. The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated.

Authors: H Schmale; R Ivell; M Breindl; D Darmer; D Richter
Journal: EMBO J Date: 1984-12-20 Impact factor: 11.598

8 in total

4 in total

Dominant-negative diabetes insipidus and other endocrinopathies.

1. Synthesis, transport, and release of posterior pituitary hormones.

2. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

3. Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting.

4. Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

5. A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.

6. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.

7. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.

8. The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated.

Review 1. Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.

Review 2. ER-associated degradation in health and disease - from substrate to organism.

3. ER-associated degradation is required for vasopressin prohormone processing and systemic water homeostasis.

4. Diabetic vasculopathy: macro and microvascular injury.