Literature DB >> 32576700

Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency.

Christa E Flück1,2, Shaheena Parween1,2, Maria Natalia Rojas Velazquez1,2, Amit V Pandey3,2.   

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Year:  2020        PMID： 32576700      PMCID： PMC7334497          DOI： 10.1073/pnas.2003154117

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  10 in total

1.  Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Authors:  Ningwu Huang; Vishal Agrawal; Kathleen M Giacomini; Walter L Miller
Journal:  Proc Natl Acad Sci U S A       Date:  2008-01-29       Impact factor: 11.205

2.  Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Authors:  Ningwu Huang; Amit V Pandey; Vishal Agrawal; William Reardon; Pablo D Lapunzina; David Mowat; Ethylin Wang Jabs; Guy Van Vliet; Joseph Sack; Christa E Flück; Walter L Miller
Journal:  Am J Hum Genet       Date:  2005-03-25       Impact factor: 11.025

3.  Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Authors:  Christa E Flück; Monika Meyer-Böni; Amit V Pandey; Petra Kempná; Walter L Miller; Eugen J Schoenle; Anna Biason-Lauber
Journal:  Am J Hum Genet       Date:  2011-07-28       Impact factor: 11.025

4.  Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.

Authors:  Shaheena Parween; Mónica Fernández-Cancio; Sara Benito-Sanz; Núria Camats; Maria Natalia Rojas Velazquez; Juan-Pedro López-Siguero; Sameer S Udhane; Norio Kagawa; Christa E Flück; Laura Audí; Amit V Pandey
Journal:  J Clin Endocrinol Metab       Date:  2020-04-01       Impact factor: 5.958

5.  Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Authors:  Christa E Flück; Toshihro Tajima; Amit V Pandey; Wiebke Arlt; Kouji Okuhara; Charles F Verge; Ethylin Wang Jabs; Berenice B Mendonça; Kenji Fujieda; Walter L Miller
Journal:  Nat Genet       Date:  2004-02-01       Impact factor: 38.330

6.  Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

Authors:  Y Ito; C R Fisher; F A Conte; M M Grumbach; E R Simpson
Journal:  Proc Natl Acad Sci U S A       Date:  1993-12-15       Impact factor: 11.205

7.  Alternative (backdoor) androgen production and masculinization in the human fetus.

Authors:  Peter J O'Shaughnessy; Jean Philippe Antignac; Bruno Le Bizec; Marie-Line Morvan; Konstantin Svechnikov; Olle Söder; Iuliia Savchuk; Ana Monteiro; Ugo Soffientini; Zoe C Johnston; Michelle Bellingham; Denise Hough; Natasha Walker; Panagiotis Filis; Paul A Fowler
Journal:  PLoS Biol       Date:  2019-02-14       Impact factor: 8.029

8.  Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

Authors:  Valiyaparambil Pavithran Praveen; Asmahane Ladjouze; Kay-Sara Sauter; Annie Pulickal; Efstathios Katharopoulos; Mafalda Trippel; Aurel Perren; Amit V Pandey; Christa E Flück
Journal:  J Endocr Soc       Date:  2020-03-10

Review 9.  NADPH P450 oxidoreductase: structure, function, and pathology of diseases.

Authors:  Amit V Pandey; Christa E Flück
Journal:  Pharmacol Ther       Date:  2013-01-24       Impact factor: 12.310

10.  Alternative pathway androgen biosynthesis and human fetal female virilization.

Authors:  Nicole Reisch; Angela E Taylor; Edson F Nogueira; Daniel J Asby; Vivek Dhir; Andrew Berry; Nils Krone; Richard J Auchus; Cedric H L Shackleton; Neil A Hanley; Wiebke Arlt
Journal:  Proc Natl Acad Sci U S A       Date:  2019-10-14       Impact factor: 11.205
  10 in total
  4 in total

Review 1.  Development and function of the fetal adrenal.

Authors:  Emanuele Pignatti; Therina du Toit; Christa E Flück
Journal:  Rev Endocr Metab Disord       Date:  2022-10-18       Impact factor: 9.306

Review 2.  Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

Authors:  Hedi L Claahsen-van der Grinten; Phyllis W Speiser; S Faisal Ahmed; Wiebke Arlt; Richard J Auchus; Henrik Falhammar; Christa E Flück; Leonardo Guasti; Angela Huebner; Barbara B M Kortmann; Nils Krone; Deborah P Merke; Walter L Miller; Anna Nordenström; Nicole Reisch; David E Sandberg; Nike M M L Stikkelbroeck; Philippe Touraine; Agustini Utari; Stefan A Wudy; Perrin C White
Journal:  Endocr Rev       Date:  2022-01-12       Impact factor: 19.871

Review 3.  Disorders of Sex Development of Adrenal Origin.

Authors:  Gabriela P Finkielstain; Ana Vieites; Ignacio Bergadá; Rodolfo A Rey
Journal:  Front Endocrinol (Lausanne)       Date:  2021-12-20       Impact factor: 5.555

4.  Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels.

Authors:  Maria Natalia Rojas Velazquez; Mathias Noebauer; Amit V Pandey
Journal:  Int J Mol Sci       Date:  2022-09-04       Impact factor: 6.208
  4 in total

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