AlphaGenome Atlas Predicts Effects of Billions of DNA Changes
AlphaGenome Atlas provides AI-generated predictions for more than 9 billion possible single-letter DNA changes across hundreds of human cell types ...
Tag: rare disease
Dual Williams and Lynch diagnoses found in 20-month-old boy: case report
A case report of a 20-month-old boy found pathogenic variants associated with both Williams syndrome and Lynch syndrome through whole-exome ...
Clinical findings in 22 Turkish boys with MECP2 variants
A multicenter study of 22 Turkish boys found varied clinical presentations among MECP2 variants, but uncertain classifications and conflicting functional ...
Granulomatous lobular mastitis involving accessory breast tissue: a case report and review of the literature
A case report and narrative review describe granulomatous lobular mastitis in accessory axillary tissue, highlighting diagnostic complexity, limited evidence and ...
Novel COL6A1 Gene Variant Linked to Rare Muscle Disorder in Child
A novel homozygous COL6A1 variant classified as uncertain has been linked to classic Ullrich congenital muscular dystrophy in a three-year-old ...
Single-Cell Atlas Reveals How a Rare ANO5 Mutation Dismantles Muscle From Within
The first single-cell RNA sequencing study of an LGMD R12 patient reveals stalled muscle regeneration, metabolic collapse, and activated immune ...
Skin Biopsy Outperforms Invasive Surgery in Global Mitochondrial Disease Study
An international study shows that functional testing on cells grown from a small skin biopsy can diagnose mitochondrial disease, often ...
Rare Genetic Syndrome in a Palestinian Infant Traced to a Never-Before-Seen GLI3 Mutation
Researchers report a previously unrecorded de novo GLI3 frameshift variant in a Palestinian infant with Pallister-Hall syndrome, offering new diagnostic ...
Rare Genetic Rickets Case Reveals Early Warning Signs Hidden in Routine Blood Tests
A 28-month follow-up of a Chinese girl with vitamin D-dependent rickets type 1A documents a previously unreported CYP27B1 genotype, dramatic ...
Faulty Connexin 43 Gene Reveals Hidden Signaling Switch Behind Rare Bone Disorder
A new study shows that GJA1 mutations in oculodentodigital dysplasia suppress Wnt/c-MYC signaling, driving a paradoxical inflammatory imbalance and excessive ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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