Literature DB >> 21782888

Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network.

Ravikumar Balasubramanian1, William F Crowley.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21782888      PMCID： PMC3226734          DOI： 10.1016/j.mce.2011.07.012

Source DB:  PubMed          Journal:  Mol Cell Endocrinol        ISSN： 0303-7207            Impact factor:   4.102


× No keyword cloud information.
  67 in total

1.  [Olfacto-genital dysplasia (agenesis of the olfactory lobes with absence of gonadal development at puberty].

Authors:  G GAUTHIER
Journal:  Acta Neuroveg (Wien)       Date:  1960

2.  Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.

Authors:  Beatriz R Versiani; Ericka Trarbach; Marcel Koenigkam-Santos; Antonio Carlos Dos Santos; Lucila L K Elias; Ayrton C Moreira; Ana Claudia Latronico; Margaret de Castro
Journal:  Clin Endocrinol (Oxf)       Date:  2007-02       Impact factor: 3.478

3.  KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

Authors:  Balasubramanian Bhagavath; Ning Xu; Metin Ozata; Robert L Rosenfield; David P Bick; Richard J Sherins; Lawrence C Layman
Journal:  Mol Hum Reprod       Date:  2007-01-09       Impact factor: 4.025

4.  Sex differences in serum luteinizing hormone and testosterone in the human neonate during the first few hours after birth.

Authors:  P Corbier; L Dehennin; M Castanier; A Mebazaa; D A Edwards; J Roffi
Journal:  J Clin Endocrinol Metab       Date:  1990-11       Impact factor: 5.958

5.  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

6.  Fluctuations in the number of germ cells during the late foetal and early postnatal periods in boys.

Authors:  J Müller; N E Skakkebaek
Journal:  Acta Endocrinol (Copenh)       Date:  1984-02

7.  Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.

Authors:  Sylvie Salenave; Philippe Chanson; Hélène Bry; Michel Pugeat; Sylvie Cabrol; Jean Claude Carel; Arnaud Murat; Pierre Lecomte; Sylvie Brailly; Jean-Pierre Hardelin; Catherine Dodé; Jacques Young
Journal:  J Clin Endocrinol Metab       Date:  2007-12-26       Impact factor: 5.958

8.  Simulation of the normal menstrual cycle in Kallman's syndrome by pulsatile administration of luteinizing hormone-releasing hormone (LHRH).

Authors:  W F Crowley; J W McArthur
Journal:  J Clin Endocrinol Metab       Date:  1980-07       Impact factor: 5.958

9.  Patterns of pulsatile luteinizing hormone and follicle-stimulating hormone secretion in prepubertal (midchildhood) boys and girls and patients with idiopathic hypogonadotropic hypogonadism (Kallmann's syndrome): a study using an ultrasensitive time-resolved immunofluorometric assay.

Authors:  F C Wu; G E Butler; C J Kelnar; H F Stirling; I Huhtaniemi
Journal:  J Clin Endocrinol Metab       Date:  1991-06       Impact factor: 5.958

10.  Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications.

Authors:  Stephanie B Seminara; Meloni J Dipietro; Suresh Ramaswamy; William F Crowley; Tony M Plant
Journal:  Endocrinology       Date:  2006-02-09       Impact factor: 4.736
View more
  27 in total

1.  Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Authors:  Andrew A Dwyer; Niraj R Chavan; Hilana Lewkowitz-Shpuntoff; Lacey Plummer; Frances J Hayes; Stephanie B Seminara; William F Crowley; Nelly Pitteloud; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2019-08-01       Impact factor: 5.958

2.  Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.

Authors:  Michael H Guo; Lacey Plummer; Yee-Ming Chan; Joel N Hirschhorn; Margaret F Lippincott
Journal:  Am J Hum Genet       Date:  2018-09-27       Impact factor: 11.025

3.  Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Authors:  David H Margolin; Maria Kousi; Yee-Ming Chan; Elaine T Lim; Jeremy D Schmahmann; Marios Hadjivassiliou; Janet E Hall; Ibrahim Adam; Andrew Dwyer; Lacey Plummer; Stephanie V Aldrin; Julia O'Rourke; Andrew Kirby; Kasper Lage; Aubrey Milunsky; Jeff M Milunsky; Jennifer Chan; E Tessa Hedley-Whyte; Mark J Daly; Nicholas Katsanis; Stephanie B Seminara
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

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.  MicroRNA-7a2 suppression causes hypogonadotropism and uncovers signaling pathways in gonadotropes.

Authors:  William F Crowley; Ravi Balasubramanian
Journal:  J Clin Invest       Date:  2017-02-20       Impact factor: 14.808

Review 6.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2015-09-22       Impact factor: 19.871

7.  Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.

Authors:  Kimberly H Cox; Luciana M B Oliveira; Lacey Plummer; Braden Corbin; Thomas Gardella; Ravikumar Balasubramanian; William F Crowley
Journal:  Hum Mol Genet       Date:  2018-01-15       Impact factor: 6.150

Review 8.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2016-02       Impact factor: 19.871

9.  A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Authors:  Sheena Chew; Ravikumar Balasubramanian; Wai-Man Chan; Peter B Kang; Caroline Andrews; Bryn D Webb; Sarah E MacKinnon; Darren T Oystreck; Jessica Rankin; Thomas O Crawford; Michael Geraghty; Scott L Pomeroy; William F Crowley; Ethylin Wang Jabs; David G Hunter; Patricia E Grant; Elizabeth C Engle
Journal:  Brain       Date:  2013-01-31       Impact factor: 13.501

10.  Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

Authors:  Brent S Abel; Natalie D Shaw; Jenifer M Brown; Judith M Adams; Teresa Alati; Kathryn A Martin; Nelly Pitteloud; Stephanie B Seminara; Lacey Plummer; Duarte Pignatelli; William F Crowley; Corrine K Welt; Janet E Hall
Journal:  J Clin Endocrinol Metab       Date:  2013-01-22       Impact factor: 5.958
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.