Literature DB >> 16470797

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.

Masanori Adachi1, Yumi Asakura, Mari Matsuo, Toshiyuki Yamamoto, Keiichi Hanaki, Wiebke Arlt.   

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Year:  2006        PMID： 16470797     DOI： 10.1002/ajmg.a.31112

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  Regulation of gap junction function and Connexin 43 expression by cytochrome P450 oxidoreductase (CYPOR).

Authors:  Srikanth R Polusani; Rekha Kar; Manuel A Riquelme; Bettie Sue Masters; Satya P Panda
Journal:  Biochem Biophys Res Commun       Date:  2011-06-25       Impact factor: 3.575

2.  Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.

Authors:  Karen M McCammon; Satya P Panda; Chuanwu Xia; Jung-Ja P Kim; Daniela Moutinho; Michel Kranendonk; Richard J Auchus; Eileen M Lafer; Debashis Ghosh; Pavel Martasek; Rekha Kar; Bettie Sue Masters; Linda J Roman
Journal:  J Biol Chem       Date:  2016-08-05       Impact factor: 5.157

3.  Adaptive hepatic and intestinal alterations in mice after deletion of NADPH-cytochrome P450 Oxidoreductase (Cpr) in hepatocytes.

Authors:  Xingguo Cheng; Jun Gu; Curtis D Klaassen
Journal:  Drug Metab Dispos       Date:  2014-08-21       Impact factor: 3.922

4.  Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase.

Authors:  Vishal Agrawal; Ji Ha Choi; Kathleen M Giacomini; Walter L Miller
Journal:  Pharmacogenet Genomics       Date:  2010-10       Impact factor: 2.089

5.  A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Authors:  Jung Min Ko; Chong-Kun Cheon; Gu-Hwan Kim; Han-Wook Yoo
Journal:  Eur J Pediatr       Date:  2008-10-14       Impact factor: 3.183

6.  Nomenclature for alleles of the cytochrome P450 oxidoreductase gene.

Authors:  Sarah C Sim; Walter L Miller; Xiao-Bo Zhong; Wiebke Arlt; Tsutomu Ogata; Xinxin Ding; C Roland Wolf; Christa E Flück; Amit V Pandey; Colin J Henderson; Todd D Porter; Ann K Daly; Daniel W Nebert; Magnus Ingelman-Sundberg
Journal:  Pharmacogenet Genomics       Date:  2009-07       Impact factor: 2.089

Review 7.  P450 oxidoreductase deficiency and Antley-Bixler syndrome.

Authors:  Wiebke Arlt
Journal:  Rev Endocr Metab Disord       Date:  2007-12       Impact factor: 6.514

8.  Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Authors:  Jan Idkowiak; Stephen O'Riordan; Nicole Reisch; Ewa M Malunowicz; Felicity Collins; Michiel N Kerstens; Birgit Köhler; Luitgard Margarete Graul-Neumann; Maria Szarras-Czapnik; Mehul Dattani; Martin Silink; Cedric H L Shackleton; Dominique Maiter; Nils Krone; Wiebke Arlt
Journal:  J Clin Endocrinol Metab       Date:  2010-12-29       Impact factor: 5.958

9.  A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.

Authors:  Jongwon Oh; Ju Sun Song; Jong Eun Park; Shin Yi Jang; Chang Seok Ki; Duk Kyung Kim
Journal:  Ann Lab Med       Date:  2017-11       Impact factor: 3.464

Review 10.  Genetics of congenital adrenal hyperplasia.

Authors:  Nils Krone; Wiebke Arlt
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2009-04       Impact factor: 4.690
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