First Mosaic Case Rewrites the Genetic Story of a Rare Overgrowth Syndrome
Researchers report the first known case of Cohen–Gibson syndrome caused by a mosaic EED variant, expanding the mutational spectrum of ...
Tag: whole exome sequencing
Giant Muscle Gene Titin Emerges as a Driver of Drug-Resistant Childhood Leukemia
A study of 152 Chinese children with acute lymphoblastic leukemia links mutations in the titin gene to prednisone resistance, poor ...
Rare ERBB2 Variants Expand the Genetic Picture of a Multisystem Congenital Disorder
A Lithuanian case report describes a boy with novel compound heterozygous ERBB2 variants, only the second family ever documented with ...
Novel De Novo MTM1 Frameshift Variant Drives Severe Muscle Disease in a Young Chinese Woman
A novel de novo MTM1 frameshift variant has been identified in a Chinese woman with lifelong progressive muscle weakness, expanding ...
Hidden Metabolic Diseases Found in Unexplained Child Deaths Through Blood Spot and DNA Analysis
A retrospective Chinese cohort study combined tandem mass spectrometry of archived newborn blood spots with whole-exome sequencing to uncover previously ...
3D Bioprinted Tumor Models Built from Patient Ascites Could Guide Gastric Cancer Treatment
Researchers have created 3D bioprinted tumor models from the ascites fluid of gastric cancer patients with peritoneal metastasis, preserving tumor ...
Single Gene Mutation Reveals Why Throat Cancers Come Back After Cisplatin Success
A new study shows that mutations emerging in the ENPP1 gene during treatment drive cisplatin resistance and recurrence in hypopharyngeal ...
Dogs and Humans Share Genetic Drivers of Liver Cancer, First Multi-Omics Study Reveals
A first-of-its-kind multi-omics study shows that dogs and humans share key genetic drivers and conserved tumor microenvironment features in hepatocellular ...
Rett Syndrome Without MECP2: Single Gene Variant Rewrites the Diagnostic Story
Swedish researchers report that a de novo variant in the GABBR2 gene, which encodes a GABA-B receptor subunit, caused classic ...
Sri Lankan Genomes Reveal Hidden Culprits Behind Rare Inherited Kidney Disease
Sri Lankan researchers have combined gene expression analysis with computational protein modeling to functionally characterize genetic variants behind rare inherited ...
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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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