Literature DB >> 16034174

Mutations in human gonadotropin and gonadotropin-receptor genes.

I T Huhtaniemi1, A P N Themmen.   

Abstract

This short review provides an update on the new information that has become available in the recent years about mutations and polymorphisms in the genes for gonadotropins and their receptors. Combining the types and locations of the mutations, their phenotypic effects, and the recently emerged information about the crystal structure of these molecules is providing us with increasingly detailed picture about the structure-function relationships of gonadotropin action.

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Year:  2005        PMID: 16034174     DOI: 10.1385/ENDO:26:3:207

Source DB:  PubMed          Journal:  Endocrine        ISSN: 1355-008X            Impact factor:   3.633


  96 in total

Review 1.  Structural biology of human follitropin and its receptor.

Authors:  J A Dias; P Van Roey
Journal:  Arch Med Res       Date:  2001 Nov-Dec       Impact factor: 2.235

2.  Purification and structural analysis of a soluble human chorionogonadotropin hormone-receptor complex.

Authors:  J J Remy; C Nespoulous; J Grosclaude; D Grébert; L Couture; E Pajot; R Salesse
Journal:  J Biol Chem       Date:  2000-10-03       Impact factor: 5.157

3.  Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone.

Authors:  M Phillip; J E Arbelle; Y Segev; R Parvari
Journal:  N Engl J Med       Date:  1998-06-11       Impact factor: 91.245

4.  Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene.

Authors:  A Richter-Unruh; J W M Martens; M Verhoef-Post; H T Wessels; W A Kors; G H G Sinnecker; A Boehmer; S L S Drop; S P A Toledo; H G Brunner; A P N Themmen
Journal:  Clin Endocrinol (Oxf)       Date:  2002-01       Impact factor: 3.478

5.  Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome.

Authors:  G S Conway; E Conway; C Walker; W Hoppner; J Gromoll; M Simoni
Journal:  Clin Endocrinol (Oxf)       Date:  1999-07       Impact factor: 3.478

6.  Study of the family of a patient with male-limited precocious puberty (MPP) due to T1193C transition in exon 11 of LH receptor gene.

Authors:  M Ignacak; J Starzyk; H Dziatkowiak; W H Trzeciak
Journal:  J Endocrinol Invest       Date:  2002-03       Impact factor: 4.256

7.  FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia.

Authors:  Lawrence C Layman; Adriana L A Porto; Jun Xie; Luiz Augusto Casulari Roxo da Motta; Lucilia Domingues Casulari da Motta; Weishui Weiser; Patrick M Sluss
Journal:  J Clin Endocrinol Metab       Date:  2002-08       Impact factor: 5.958

8.  Chorionic gonadotrophin beta subunit mRNA but not luteinising hormone beta subunit mRNA is expressed in the pituitary of the common marmoset (Callithrix jacchus).

Authors:  T Müller; M Simoni; E Pekel; C M Luetjens; R Chandolia; F Amato; R J Norman; J Gromoll
Journal:  J Mol Endocrinol       Date:  2004-02       Impact factor: 5.098

9.  Genetic and functional analyses of polymorphisms in the human FSH receptor gene.

Authors:  Satoko Sudo; Masataka Kudo; Shin-ichiro Wada; Osamu Sato; Aaron J W Hsueh; Seiichiro Fujimoto
Journal:  Mol Hum Reprod       Date:  2002-10       Impact factor: 4.025

10.  Crystal structure of porcine ribonuclease inhibitor, a protein with leucine-rich repeats.

Authors:  B Kobe; J Deisenhofer
Journal:  Nature       Date:  1993 Dec 23-30       Impact factor: 49.962

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  40 in total

1.  The extracts of Pacific oyster (Crassostrea gigas) alleviate ovarian functional disorders of female rats with exposure to bisphenol a through decreasing FSHR expression in ovarian tissues.

Authors:  Jue Zhou; Fan Qu; Yue Jin; Dong-Xia Yang
Journal:  Afr J Tradit Complement Altern Med       Date:  2014-08-23

Review 2.  Targeting gonadotropin receptor genes: reproductive biology, aging, and related health implications.

Authors:  Natalia Danilovich; M Ram Sairam
Journal:  Endocrine       Date:  2005-04       Impact factor: 3.633

Review 3.  Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.

Authors:  Alfredo Ulloa-Aguirre; Teresa Zariñán; James A Dias; P Michael Conn
Journal:  Mol Cell Endocrinol       Date:  2013-06-24       Impact factor: 4.102

4.  "Been hit twice": a novel bi-allelic heterozygous mutation in LHCGR.

Authors:  T Rajendra Kumar
Journal:  J Assist Reprod Genet       Date:  2014-07       Impact factor: 3.412

5.  Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist.

Authors:  Claire L Newton; Adele M Whay; Craig A McArdle; Meilin Zhang; Chris J van Koppen; Ruud van de Lagemaat; Deborah L Segaloff; Robert P Millar
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-11       Impact factor: 11.205

Review 6.  Constitutively active luteinizing hormone receptors: consequences of in vivo expression.

Authors:  Thomas P Meehan; Prema Narayan
Journal:  Mol Cell Endocrinol       Date:  2006-10-12       Impact factor: 4.102

Review 7.  Fshb Knockout Mouse Model, Two Decades Later and Into the Future.

Authors:  T Rajendra Kumar
Journal:  Endocrinology       Date:  2018-05-01       Impact factor: 4.736

Review 8.  Trafficking of G-protein-coupled receptors to the plasma membrane: insights for pharmacoperone drugs.

Authors:  P Michael Conn; Alfredo Ulloa-Aguirre
Journal:  Trends Endocrinol Metab       Date:  2009-12-11       Impact factor: 12.015

Review 9.  Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.

Authors:  Liina Nagirnaja; Kristiina Rull; Liis Uusküla; Pille Hallast; Marina Grigorova; Maris Laan
Journal:  Mol Cell Endocrinol       Date:  2010-05-19       Impact factor: 4.102

10.  Trafficking of the follitropin receptor.

Authors:  Alfredo Ulloa-Aguirre; James A Dias; George Bousfield; Ilpo Huhtaniemi; Eric Reiter
Journal:  Methods Enzymol       Date:  2013       Impact factor: 1.600

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