Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
In Vitro Evaluation of the Reductase Activities of Human AKR1C3 Allelic Variants.
Takano S et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2023
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ et al.
International Journal of Molecular Sciences, 2023
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
Characterization of the major single nucleotide polymorphic variants of aldo-keto reductase 1C3 (type 5 17β-hydroxysteroid dehydrogenase).
Detlefsen AJ et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2022
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Polymorphisms in androgen metabolism genes with serum testosterone levels and prognosis in androgen-deprivation therapy.
Shiota M et al.
Urologic Oncology, 2020
Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias.
Mares L et al.
Journal of Pediatric Urology, 2020
Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in postmenopausal patients with breast cancer.
Hertz DL et al.
The Pharmacogenomics Journal, 2017
Impact of nonsynonymous single nucleotide polymorphisms on in-vitro metabolism of exemestane by hepatic cytosolic reductases.
Platt A et al.
Pharmacogenetics and Genomics, 2016
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.
Söderhäll C et al.
European Journal of Human Genetics : Ejhg, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer.
Plourde M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2009
A novel polymorphism in the 17beta-hydroxysteroid dehydrogenase type 5 (aldo-keto reductase 1C3) gene is associated with lower serum testosterone levels in caucasian men.
Jakobsson J et al.
The Pharmacogenomics Journal, 2007