Articles with "variant alleles" as a keyword



Photo from wikipedia

Association of HSD3B1 Genotype With Response to Androgen-Deprivation Therapy for Biochemical Recurrence After Radiotherapy for Localized Prostate Cancer

Sign Up to like & get
recommendations!
Published in 2018 at "JAMA Oncology"

DOI: 10.1001/jamaoncol.2017.3164

Abstract: Importance The variant HSD3B1 (1245C) allele enhances dihydrotestosterone synthesis and predicts resistance to androgen-deprivation therapy (ADT) for biochemically recurrent prostate cancer after prostatectomy and for metastatic disease. Whether this is true after radiotherapy is unknown.… read more here.

Keywords: radiotherapy; biochemical recurrence; prostate cancer; variant alleles ... See more keywords
Photo from wikipedia

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.

Sign Up to like & get
recommendations!
Published in 2023 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.2195

Abstract: BACKGROUND Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes which generally correlate with… read more here.

Keywords: chimera; cyp21a2; cyp21a1p cyp21a2; cah ... See more keywords