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Links from Nucleotide

Items: 20

1.
Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies.
C E Aston, S L Sherman, N E Morton, P W Speiser, M I New
Am J Hum Genet. 1988 Sep; 43(3): 304–310.
PMCID:
PMC1715389
SummaryPage BrowsePDF–1.0M
2.
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
Y Higashi, H Yoshioka, M Yamane, O Gotoh, Y Fujii-Kuriyama
Proc Natl Acad Sci U S A. 1986 May; 83(9): 2841–2845. doi: 10.1073/pnas.83.9.2841
PMCID:
PMC323402
SummaryPage BrowsePDF–1.2M
3.
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
F Harada, A Kimura, T Iwanaga, K Shimozawa, J Yata, T Sasazuki
Proc Natl Acad Sci U S A. 1987 Nov; 84(22): 8091–8094. doi: 10.1073/pnas.84.22.8091
PMCID:
PMC299484
SummaryPage BrowsePDF–834K
4.
Bioactivity of Curcumin on the Cytochrome P450 Enzymes of the Steroidogenic Pathway
Patricia Rodríguez Castaño, Shaheena Parween, Amit V Pandey
Int J Mol Sci. 2019 Sep; 20(18): 4606. Published online 2019 Sep 17. doi: 10.3390/ijms20184606
PMCID:
PMC6770025
AbstractArticlePDF–3.2M
5.
46,XX DSD Due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features
Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo
Int J Mol Sci. 2019 Sep; 20(18): 4605. Published online 2019 Sep 17. doi: 10.3390/ijms20184605
PMCID:
PMC6769793
AbstractArticlePDF–1.9M
6.
Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency
Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao
Mol Genet Genomic Med. 2019 Jun; 7(6): e671. Published online 2019 Apr 9. doi: 10.1002/mgg3.671
PMCID:
PMC6565591
AbstractArticlePDF–1.6M
7.
DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data
Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee, Inho Park
BMC Bioinformatics. 2018; 19: 381. Published online 2018 Oct 16. doi: 10.1186/s12859-018-2409-6
PMCID:
PMC6192323
AbstractArticlePDF–1.7M
8.
Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review
Dongdong Wang, Jiahui Wang, Tong Tong, Qing Yang
J Ovarian Res. 2018; 11: 82. Published online 2018 Sep 17. doi: 10.1186/s13048-018-0450-8
PMCID:
PMC6139905
AbstractArticlePDF–842K
9.
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling
Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi
BMC Med Genet. 2018; 19: 115. Published online 2018 Jul 11. doi: 10.1186/s12881-018-0629-2
PMCID:
PMC6042323
AbstractArticlePDF–1.2M
10.
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review
Yang Bai, Jinhui Li, Xiaoli Wang
J Ovarian Res. 2017; 10: 16. Published online 2017 Mar 14. doi: 10.1186/s13048-017-0312-9
PMCID:
PMC5348910
AbstractArticlePDF–1.2M
11.
Genetics and genomic medicine in the Philippines
Carmencita D. Padilla, Eva Maria Cutiongco‐de la Paz
Mol Genet Genomic Med. 2016 Sep; 4(5): 494–503. Published online 2016 Sep 15. doi: 10.1002/mgg3.247
PMCID:
PMC5023934
ArticlePDF–507K
12.
sHDL Nanoparticles: A Novel Therapeutic Strategy for Adrenocortical Carcinomas
Chitra Subramanian, Rui Kuai, Qing Zhu, Peter White, James Moon, Anna Schwendeman, Mark S. Cohen
Surgery. Author manuscript; available in PMC 2017 Jan 1.
Published in final edited form as: Surgery. 2016 Jan; 159(1): 284–295. Published online 2015 Nov 12. doi: 10.1016/j.surg.2015.08.023
PMCID:
PMC4709032
AbstractArticlePDF–548K
13.
The role of melanogenesis in regulation of melanoma behavior: Melanogenesis leads to stimulation of HIF-1α expression and HIF-dependent attendant pathways
A Slominski, T-K Kim, A, A Brozyna, Z Janjetovic, DLP Brooks, LP Schwab, C Skobowiat, W Jozwicki, TN Seagroves
Arch Biochem Biophys. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: Arch Biochem Biophys. 2014 Dec 1; 563: 79–93. Published online 2014 Jul 2. doi: 10.1016/j.abb.2014.06.030
PMCID:
PMC4221528
AbstractArticlePDF–2.6M
14.
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo, Paola Grammatico
Endocr Connect. 2014 Dec 1; 3(4): 180–192. Published online 2014 Oct 13. doi: 10.1530/EC-14-0085
PMCID:
PMC4195882
AbstractArticlePDF–249K
15.
POTENTIAL EPIGENETIC DYSREGULATION OF GENES ASSOCIATED WITH MODY AND TYPE 2 DIABETES IN HUMANS EXPOSED TO A DIABETIC INTRAUTERINE ENVIRONMENT: AN ANALYSIS OF GENOME-WIDE DNA METHYLATION
Melissa C del Rosario, Vicky Ossowski, William C Knowler, Clifton Bogardus, Leslie J Baier, Robert L Hanson
Metabolism. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Metabolism. 2014 May; 63(5): 654–660. Published online 2014 Jan 21. doi: 10.1016/j.metabol.2014.01.007
PMCID:
PMC3995826
AbstractArticlePDF–619K
16.
Ablation of Vimentin Results in Defective Steroidogenesis
Wen-Jun Shen, Syed Kashif Zaidi, Shailja Patel, Yuan Cortez, Masami Ueno, Rakia Azhar, Salman Azhar, Fredric B. Kraemer
Endocrinology. 2012 Jul; 153(7): 3249–3257. Published online 2012 Apr 24. doi: 10.1210/en.2012-1048
PMCID:
PMC3380307
AbstractArticle
17.
HPV16 E2 could act as down-regulator in cellular genes implicated in apoptosis, proliferation and cell differentiation
Eric Ramírez-Salazar, Federico Centeno, Karen Nieto, Armando Valencia-Hernández, Mauricio Salcedo, Efraín Garrido
Virol J. 2011; 8: 247. Published online 2011 May 20. doi: 10.1186/1743-422X-8-247
PMCID:
PMC3127837
AbstractArticlePDF–362K
18.
The origins and impact of primate segmental duplications
Tomas Marques-Bonet, Santhosh Girirajan, Evan E. Eichler
Trends Genet. Author manuscript; available in PMC 2010 Apr 1.
Published in final edited form as: Trends Genet. 2009 Oct; 25(10): 443–454. Published online 2009 Sep 30. doi: 10.1016/j.tig.2009.08.002
PMCID:
PMC2847396
AbstractArticlePDF–2.5M
19.
Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing
Michael Hiller, Klaus Huse, Karol Szafranski, Niels Jahn, Jochen Hampe, Stefan Schreiber, Rolf Backofen, Matthias Platzer
Am J Hum Genet. 2006 Feb; 78(2): 291–302. Published online 2005 Dec 22. doi: 10.1086/500151
Correction in:
Am J Hum Genet. 2006 Apr; 78(4): 733.
PMCID:
PMC1380236
AbstractArticlePDF–715K
20.
A genome-wide survey of Major Histocompatibility Complex (MHC) genes and their paralogues in zebrafish
Jennifer G Sambrook, Felipe Figueroa, Stephan Beck
BMC Genomics. 2005; 6: 152. Published online 2005 Nov 4. doi: 10.1186/1471-2164-6-152
PMCID:
PMC1309616
AbstractArticlePDF–314K

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