Literature DB >> 35125688

New Horizons: Molecular Basis and Novel Therapeutics in Congenital Adrenal Hyperplasia.

Rajendra Prasad1, Sonia Deswal1.   

Abstract

Entities:  

Year:  2022        PMID： 35125688      PMCID： PMC8799801          DOI： 10.1007/s12291-021-01020-w

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


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  9 in total

Review 1.  Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.

Authors:  A Wedell
Journal:  Acta Paediatr       Date:  1998-02       Impact factor: 2.299

2.  The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.

Authors:  Ragini Khajuria; Rama Walia; Anil Bhansali; Rajendra Prasad
Journal:  Clin Chim Acta       Date:  2016-11-25       Impact factor: 3.786

3.  Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency.

Authors:  Adina F Turcu; Joanna L Spencer-Segal; Robert H Farber; Rosa Luo; Dimitri E Grigoriadis; Carole A Ramm; David Madrigal; Tim Muth; Christopher F O'Brien; Richard J Auchus
Journal:  J Clin Endocrinol Metab       Date:  2016-01-11       Impact factor: 5.958

4.  A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.

Authors:  Yuki Kawashima; Takeshi Usui; Masanobu Fujimoto; Naoki Miyahara; Rei Nishimura; Keiichi Hanaki; Susumu Kanzaki
Journal:  Endocr J       Date:  2014-10-15       Impact factor: 2.349

5.  Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.

Authors:  Ragini Khajuria; Rama Walia; Anil Bhansali; Rajendra Prasad
Journal:  Biochimie       Date:  2018-04-22       Impact factor: 4.079

6.  Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.

Authors:  Richard J Auchus; Elizabeth O Buschur; Alice Y Chang; Gary D Hammer; Carole Ramm; David Madrigal; George Wang; Martha Gonzalez; Xu Steven Xu; Johan W Smit; James Jiao; Margaret K Yu
Journal:  J Clin Endocrinol Metab       Date:  2014-04-29       Impact factor: 5.958

Review 7.  Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  Maguelone G Forest
Journal:  Hum Reprod Update       Date:  2004 Nov-Dec       Impact factor: 15.610

8.  The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.

Authors:  Deniz Kirac; Ahmet Ilter Guney; Teoman Akcay; Tulay Guran; Korkut Ulucan; Serap Turan; Deniz Ergec; Gulsah Koc; Fatih Eren; Elif Cigdem Kaspar; Abdullah Bereket
Journal:  Ann Hum Genet       Date:  2014-09-17       Impact factor: 1.670

9.  Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

Authors:  Gerard Ruiz-Babot; Mariya Balyura; Irene Hadjidemetriou; Sharon J Ajodha; David R Taylor; Lea Ghataore; Norman F Taylor; Undine Schubert; Christian G Ziegler; Helen L Storr; Maralyn R Druce; Evelien F Gevers; William M Drake; Umasuthan Srirangalingam; Gerard S Conway; Peter J King; Louise A Metherell; Stefan R Bornstein; Leonardo Guasti
Journal:  Cell Rep       Date:  2018-01-30       Impact factor: 9.423
  9 in total

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