Mitchell Goheen
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View article: Type I Collagen Signaling Regulates Opposing Fibrotic Pathways through α<sub>2</sub>β<sub>1</sub> Integrin
Type I Collagen Signaling Regulates Opposing Fibrotic Pathways through α<sub>2</sub>β<sub>1</sub> Integrin Open
Fibrosis is characterized by fibroblast activation, leading to matrix remodeling culminating in a stiff, type I collagen-rich fibrotic matrix. Alveolar epithelial cell (AEC) apoptosis is also a major feature of fibrogenesis, and AEC apopto…
View article: Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2?
Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2? Open
Aicardi–Goutières syndrome ( AGS ) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon‐mediated …
View article: MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome Open
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on biological processes. Furthermore, there remains an unmet demand for an efficient surv…
View article: The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease Open
View article: A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Open