RASopathies and ciliopathies may share a common ciliary root cause
A new perspective proposes that defective primary cilium function could be a shared mechanistic denominator linking RASopathies and ciliopathies.
Tag: RASopathies
BabyMERIT Trial to Test Trametinib for Severe Infantile Hypertrophic Cardiomyopathy
The NIH-funded BabyMERIT trial will test trametinib in 25 infants with severe hypertrophic cardiomyopathy associated with Noonan syndrome and related ...
Mosaic RASopathies: how postzygotic mutations rewrite diagnosis and prognosis
A comprehensive genetic and clinicopathological analysis of 18 patients with mosaic RASopathies reveals that postzygotic mutations in HRAS, KRAS, BRAF, ...
Rare Genetic Syndrome Case Shows Skin Drug Dupilumab Clears Stubborn Eczema
A genetically confirmed case of Costello syndrome shows that the biologic drug dupilumab resolved severe, treatment-refractory eczema within one month, ...
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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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