Woman Who Cannot Feel Skin Pain or Tickling Carries NAA10 Gene Variant
A case report describes a woman in her twenties with a pathogenic NAA10 variant who is insensitive to skin pain, ...
Tag: genetics
Long-read sequencing links intronic TG repeats to CD36 deficiency patterns
Long-read sequencing of 100 donor blood samples shows intronic (TG)n repeats in the CD36 gene are tightly linked to variant ...
Rare POLR2A Variant Linked to Developmental Regression Shows Response to Low-Dose Dopamine Therapy
A case report describes a girl with a rare POLR2A-related neurodevelopmental disorder who showed regression and improved markedly on low-dose ...
Systematic Review Maps the Genetic Landscape of Epilepsy Across Africa
A systematic review of 78 studies found 165 diagnostic genes and marked population-specific founder variants in African families with genetic ...
Women Scientists Shaped Developmental Biology From Its Very First Pages
A historical review of the journal Development, Genes and Evolution finds that 203 papers by women authors between 1894 and ...
Single-nucleus maps of human skeletal muscle expose cell-specific genetic control of metabolic traits
A population-scale single-nucleus study of 287 human skeletal muscle biopsies maps cell-type-specific eQTLs and caQTLs that colocalize with thousands of ...
Novel ALPL Splice-Site Mutation Identified as Cause of Severe Perinatal Hypophosphatasia
Whole exome sequencing of an aborted fetus from a consanguineous Iranian family identified a novel homozygous ALPL splice-site variant, c.863–2 ...
Rare Gene Variants Point to Type 17 Immunity in Trauma-Related Hypo-Inflammation
A network analysis of rare SNPs in critically ill trauma patients identified RORA as a hub gene linked to hypo-inflammation ...
New Genetic Clues and Oral Therapies Reshape Hereditary Angioedema Care
Conference abstracts presented at the 14th C1-inhibitor Deficiency and Angioedema Workshop report rare double genetic diagnoses, novel angioedema-linked variants, and ...
Novel PEX26 Variant Linked to Isolated Hearing Loss in Iranian Man
A novel homozygous PEX26 variant was identified in an Iranian man with bilateral sensorineural hearing loss and no other clinical ...
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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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