Literature DB >> 8664969

Luteinizing hormone receptor mutations and sex differentiation.

A P Themmen1, H G Brunner.   

Abstract

Mutations in the luteinizing hormone (LH) receptor gene have been found in patients with abnormalities in their sexual differentiation. In this paper we review results obtained in the studies of these LH receptor mutations. Activating and inactivating mutations are discussed with respect to the mechanism of action of LH/human chorionic gonadotrophin but also in light of their impact of the present knowledge of the physiology of sex differentiation and gonadal function.

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Year:  1996        PMID： 8664969     DOI： 10.1530/eje.0.1340533

Source DB:  PubMed          Journal:  Eur J Endocrinol        ISSN： 0804-4643            Impact factor:   6.664


  10 in total

Review 1.  Regulation of G protein-coupled receptor export trafficking.

Authors:  Chunmin Dong; Catalin M Filipeanu; Matthew T Duvernay; Guangyu Wu
Journal:  Biochim Biophys Acta       Date:  2006-09-23

2.  Rab26 modulates the cell surface transport of α2-adrenergic receptors from the Golgi.

Authors:  Chunman Li; Yi Fan; Tien-Hung Lan; Nevin A Lambert; Guangyu Wu
Journal:  J Biol Chem       Date:  2012-10-26       Impact factor: 5.157

3.  Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.

Authors:  J Müller; B Gondos; S Kosugi; T Mori; A Shenker
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

4.  Alpha2B-adrenergic receptor interaction with tubulin controls its transport from the endoplasmic reticulum to the cell surface.

Authors:  Matthew T Duvernay; Hong Wang; Chunmin Dong; Jesse J Guidry; Dan L Sackett; Guangyu Wu
Journal:  J Biol Chem       Date:  2011-02-28       Impact factor: 5.157

5.  Regulation of anterograde transport of alpha2-adrenergic receptors by the N termini at multiple intracellular compartments.

Authors:  Chunmin Dong; Guangyu Wu
Journal:  J Biol Chem       Date:  2006-10-12       Impact factor: 5.157

Review 6.  Phenotypic diversity in siblings with partial androgen insensitivity syndrome.

Authors:  B A Evans; I A Hughes; C L Bevan; M N Patterson; J W Gregory
Journal:  Arch Dis Child       Date:  1997-06       Impact factor: 3.791

Review 7.  Mutations of LH and FSH receptors.

Authors:  P Beck-Peccoz; R Romoli; L Persani
Journal:  J Endocrinol Invest       Date:  2000-10       Impact factor: 4.256

8.  A single conserved leucine residue on the first intracellular loop regulates ER export of G protein-coupled receptors.

Authors:  Matthew T Duvernay; Chunmin Dong; Xiaoping Zhang; Mélanie Robitaille; Terence E Hébert; Guangyu Wu
Journal:  Traffic       Date:  2009-02-11       Impact factor: 6.215

9.  A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.

Authors:  I Beau; P Touraine; G Meduri; A Gougeon; A Desroches; C Matuchansky; E Milgrom; F Kuttenn; M Misrahi
Journal:  J Clin Invest       Date:  1998-10-01       Impact factor: 14.808

10.  Human C1orf27 protein interacts with α2A-adrenergic receptor and regulates its anterograde transport.

Authors:  Xin Xu; Guangyu Wu
Journal:  J Biol Chem       Date:  2022-05-10       Impact factor: 5.486
  10 in total

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