Literature DB >> 9613366

Advances in endocrinology.

P E Clayton1, V Tillmann.   

Abstract

Molecular genetics will continue to help us to make precise diagnoses. At present, the expertise to achieve this for a specific disease is often exclusive to one unit with a research interest. It will be important to establish a coordinated approach at a supraregional level to provide molecular diagnosis for rare disorders as a fast reliable clinical service. In addition understanding the molecular mechanisms of disease is likely to direct a search for new treatments. For instance, calcium channel blockers have been used in nesidoblastosis to reduce the hypersecretion of insulin, as a result of the recognition of the role that calcium has in the function of the beta-cell ATP sensitive K+ channel. Although the potential benefits of hGH are now being clearly defined in a range of growth disorders, the treatment is invasive and expensive. It is likely that future endocrine therapeutic developments could include slow release growth hormone preparations, orally active growth hormone mimetics, or even hormone production from an ectopic viral cDNA vector. The next "advances in endocrinology" will also reveal whether leptin will have a therapeutic role in appetite control or even the modulation of pubertal development.

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Year:  1998        PMID: 9613366      PMCID: PMC1717512          DOI: 10.1136/adc.78.3.278

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  113 in total

1.  Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.

Authors:  E K Pivnick; S Wachtel; D Woods; J L Simpson; C E Bishop
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone.

Authors:  J Weiss; L Axelrod; R W Whitcomb; P E Harris; W F Crowley; J L Jameson
Journal:  N Engl J Med       Date:  1992-01-16       Impact factor: 91.245

3.  Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome.

Authors:  R G Rosenfeld; J Frane; K M Attie; J A Brasel; S Burstein; J F Cara; S Chernausek; R W Gotlin; J Kuntze; B M Lippe
Journal:  J Pediatr       Date:  1992-07       Impact factor: 4.406

4.  A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

Authors:  M Ito; Y Mori; Y Oiso; H Saito
Journal:  J Clin Invest       Date:  1991-02       Impact factor: 14.808

5.  Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Authors:  L S Weinstein; A Shenker; P V Gejman; M J Merino; E Friedman; A M Spiegel
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

6.  A familial mutation in the testis-determining gene SRY shared by both sexes.

Authors:  R J Jäger; V R Harley; R A Pfeiffer; P N Goodfellow; G Scherer
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

7.  Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

Authors:  R W Pfäffle; G E DiMattia; J S Parks; M R Brown; J M Wit; M Jansen; H Van der Nat; J L Van den Brande; M G Rosenfeld; H A Ingraham
Journal:  Science       Date:  1992-08-21       Impact factor: 47.728

8.  A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

Authors:  S Radovick; M Nations; Y Du; L A Berg; B D Weintraub; F E Wondisford
Journal:  Science       Date:  1992-08-21       Impact factor: 47.728

9.  Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

Authors:  J R Hawkins; A Taylor; P N Goodfellow; C J Migeon; K D Smith; G D Berkovitz
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

10.  A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

Authors:  U Bahnsen; P Oosting; D F Swaab; P Nahke; D Richter; H Schmale
Journal:  EMBO J       Date:  1992-01       Impact factor: 11.598

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