Literature DB >> 8529707

Molecular biology and its application in paediatric endocrinology.

P E Mullis1, J K Wagner.   

Abstract

Recent advances in molecular biology and genetics have paved the way to a greater understanding of molecular mechanisms of human disease and, in particular, endocrine disorders. For example, new information concerning the structure and function of different receptors and intracellular signalling has allowed precise definition of the molecular defects involved in various disorders such as McCune-Albright syndrome, growth hormone insensitivity syndromes. Although these conditions might be rare, their susceptibility to analysis was due largely to availability and progress of the molecular biological methods. The aim of this review article is to introduce the language of molecular biology by means of a selected group of endocrine disorders.

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Year:  1995        PMID: 8529707     DOI: 10.1007/bf02191503

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  29 in total

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Journal:  Cold Spring Harb Symp Quant Biol       Date:  1953

Review 2.  Recent advances in the polymerase chain reaction.

Authors:  H A Erlich; D Gelfand; J J Sninsky
Journal:  Science       Date:  1991-06-21       Impact factor: 47.728

Review 3.  Human gene therapy.

Authors:  W F Anderson
Journal:  Science       Date:  1992-05-08       Impact factor: 47.728

4.  Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).

Authors:  C R Newton; A Graham; L E Heptinstall; S J Powell; C Summers; N Kalsheker; J C Smith; A F Markham
Journal:  Nucleic Acids Res       Date:  1989-04-11       Impact factor: 16.971

5.  Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.

Authors:  E J Holtzman; H W Harris; L F Kolakowski; L M Guay-Woodford; B Botelho; D A Ausiello
Journal:  N Engl J Med       Date:  1993-05-27       Impact factor: 91.245

6.  The human gene encoding insulin-like growth factor I is located on chromosome 12.

Authors:  J W Höppener; P de Pagter-Holthuizen; A H Geurts van Kessel; M Jansen; S D Kittur; S E Antonarakis; C J Lips; J S Sussenbach
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.

Authors:  M Odawara; T Kadowaki; R Yamamoto; Y Shibasaki; K Tobe; D Accili; C Bevins; Y Mikami; N Matsuura; Y Akanuma
Journal:  Science       Date:  1989-07-07       Impact factor: 47.728

8.  Transcription of the dystrophin gene in human muscle and non-muscle tissue.

Authors:  J Chelly; J C Kaplan; P Maire; S Gautron; A Kahn
Journal:  Nature       Date:  1988-06-30       Impact factor: 49.962

9.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

10.  The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

Authors:  R Legouis; J P Hardelin; J Levilliers; J M Claverie; S Compain; V Wunderle; P Millasseau; D Le Paslier; D Cohen; D Caterina
Journal:  Cell       Date:  1991-10-18       Impact factor: 41.582

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