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News
How NR5A1 gene variants drive 46,XY sex development disorders
1+ week, 1+ day ago (104+ words) Variants in a single “master switch” gene called NR5A1 have long been known to disrupt male sexual development, but why one child is severely affected while another with a similar mutation escapes with milder features has remained one of the most…...
Human long noncoding RNA localization is isoform-specific, obscured by
2+ week, 4+ day ago (754+ words) gene-level analysis Bioengineer.org...
Placenta Gene PHLDA2 Hits Female Fetuses Harder, Mouse Study Finds
1+ day, 7+ hour ago (607+ words) Deep inside the mammalian placenta, a quiet genetic tug-of-war shapes how much a growing fetus asks of its mother....
News: UNCOVERseq Exposes Off-Targets Missed by Established Standards
2+ week, 4+ day ago (379+ words) An new end-to-end nomination workflow improves the nomination of genomic sites that may be unintentionally edited by CRISPR-Cas, combining high analytical sensitivity with a comparatively manageable list of candidates for confirmation. Tests in cell lines and human HSPCs suggest clinical…...
Aging reshapes RNA isoforms and coding potential in the mouse ovary
1+ week, 6+ day ago (90+ words) The aging ovary has long been told as a story of loss: fewer eggs, poorer-quality eggs, and a slow fade in the hormonal machinery that sustains them. A new study adds a surprising subplot. As ovaries age, the very architecture…...
Study uncovers overlooked DNA mutation pattern linked to colorectal cancer
3+ week, 3+ day ago (618+ words) Researchers at the University of California San Diego and collaborating institutions have identified and validated a previously overlooked pattern of DNA mutations in colorectal cancer, revealing a recurring genomic feature that may reflect changes in the way tumor cells replicate…...
Genome sequencing reveals chromosomal fusion behind early XY sex chromosome
1+ week, 1+ day ago (86+ words) In a discovery that offers one of the clearest snapshots yet of sex chromosomes caught in the act of being born, researchers in China have mapped the earliest stages of X and Y chromosome evolution in the darkbarbel catfish (Tachysurus…...
Targeted Gene Sequencing Transforms Molecular Diagnosis of Hereditary
1+ day, 43+ min ago (604+ words) Hereditary hemochromatosis has long been one of medicine’s deceptively simple puzzles. Patients accumulate iron because their bodies fail to regulate absorption properly, and over years the metal quietly builds up in the liver, heart, pancreas, and joints. Yet behind this…...
Four-Gene Signature Tied to Young Age Predicts Breast Cancer Recurrence
1+ day, 1+ hour ago (69+ words) Why do young women with breast cancer so often fare worse than older patients, even when their tumors look similar under the microscope? A new study published in Cancer Reports offers a fresh molecular clue. By mining large public genomic…...
How genes and sex jointly shape cognition in Philadelphia youth cohort
1+ week, 2+ day ago (876+ words) One of the largest genetic investigations of cognition ever conducted in young people has found that while boys and girls differ modestly on a range of cognitive tests, those differences are mirrored by real differences in how strongly genes shape…...