Literature DB >> 24974358

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

T Rajendra Kumar1.   

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Year:  2014        PMID： 24974358      PMCID： PMC4096889          DOI： 10.1007/s10815-014-0284-2

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


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  39 in total

Review 1.  Regulation of luteinizing hormone/human chorionic gonadotropin receptor expression: a perspective.

Authors:  K M J Menon; Utpal M Munshi; Christine L Clouser; Anil K Nair
Journal:  Biol Reprod       Date:  2003-12-10       Impact factor: 4.285

2.  Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form.

Authors:  Sabrina Basciani; Mikiko Watanabe; Stefania Mariani; Marina Passeri; Agnese Persichetti; Daniela Fiore; Anna Scotto d'Abusco; Massimiliano Caprio; Andrea Lenzi; Andrea Fabbri; Lucio Gnessi
Journal:  J Clin Endocrinol Metab       Date:  2012-06-21       Impact factor: 5.958

Review 3.  New genes controlling human reproduction and how you find them.

Authors:  William F Crowley; Nelly Pitteloud; Stephanie Seminara
Journal:  Trans Am Clin Climatol Assoc       Date:  2008

Review 4.  Activating and inactivating mutations in LH receptors.

Authors:  A P Themmen; J W Martens; H G Brunner
Journal:  Mol Cell Endocrinol       Date:  1998-10-25       Impact factor: 4.102

Review 5.  Chaperoning G protein-coupled receptors: from cell biology to therapeutics.

Authors:  Ya-Xiong Tao; P Michael Conn
Journal:  Endocr Rev       Date:  2014-03-24       Impact factor: 19.871

Review 6.  Luteinizing hormone-releasing hormone receptor targeted agents for prostate cancer.

Authors:  Stephen V Liu; Shanshan Liu; Jacek Pinski
Journal:  Expert Opin Investig Drugs       Date:  2011-03-31       Impact factor: 6.206

7.  Effect of luteinizing hormone on the steroidogenic pathway in prostate cancer.

Authors:  Jacek Pinski; Shigang Xiong; Qingcai Wang; Frank Stanczyk; Debra Hawes; Stephen V Liu
Journal:  Prostate       Date:  2010-11-17       Impact factor: 4.104

8.  Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

Authors:  Nelly Pitteloud; Richard Quinton; Simon Pearce; Taneli Raivio; James Acierno; Andrew Dwyer; Lacey Plummer; Virginia Hughes; Stephanie Seminara; Yu-Zhu Cheng; Wei-Ping Li; Gavin Maccoll; Anna V Eliseenkova; Shaun K Olsen; Omar A Ibrahimi; Frances J Hayes; Paul Boepple; Janet E Hall; Pierre Bouloux; Moosa Mohammadi; William Crowley
Journal:  J Clin Invest       Date:  2007-01-18       Impact factor: 14.808

9.  Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure.

Authors:  M David Stewart; Jian Ming Deng; C Allison Stewart; Rachael D Mullen; Ying Wang; Suhujey Lopez; M Katalina Serna; Cheng-Chiu Huang; Jo Ann Janovick; Andrew J Pask; Robert J Schwartz; P Michael Conn; Richard R Behringer
Journal:  Mol Endocrinol       Date:  2012-08-23

Review 10.  Transitioning pharmacoperones to therapeutic use: in vivo proof-of-principle and design of high throughput screens.

Authors:  P Michael Conn; David C Smithson; Peter S Hodder; M David Stewart; Richard R Behringer; Emery Smith; Alfredo Ulloa-Aguirre; Jo Ann Janovick
Journal:  Pharmacol Res       Date:  2013-12-25       Impact factor: 7.658
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  2 in total

1.  Extragonadal FSH receptor: is it real?

Authors:  T Rajendra Kumar
Journal:  Biol Reprod       Date:  2014-08-20       Impact factor: 4.285

2.  Sex chromosome evolution among amniotes: is the origin of sex chromosomes non-random?

Authors:  Lukáš Kratochvíl; Tony Gamble; Michail Rovatsos
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2021-07-26       Impact factor: 6.671
  2 in total

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