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Mutations in the gene encoding surfactant protein C (SFTPC) are associated with interstitial lung disease in children and adults. To assess the natural history of disease, we knocked-in a familial, disease-associated SFTPC mutation, L188Q (L184Q in mice), into the mouse Sftpc locus. Expression of th...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2020-08-19 | MSV000085976 | MassIVE
Hereditary angioedema (HAE) is a rare and potentially life-threatening disease. The pathogenesis of HAE is not well understood. Moreover, non-invasive disease biomarkers are strongly needed for early diagnosis and clinical management of HAE.
ORGANISM(S): Homo Sapiens 
Pulmonary alveolar microlithiasis is an autosomal recessive lung disease caused by a deficiency in the pulmonary epithelial Npt2b sodium-phosphate co-transporter that results in accumulation of phosphate and formation of hydroxyapatite microliths in the alveolar space. The single cell transcriptomic...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) Mus Musculus (ncbitaxon:10090) 
2023-02-16 | MSV000091302 | GNPS
The exit from pluripotency or pluripotent-somatic transition (PST) landmarks an event of mammalian development, and is also a representative cell-fate transition model, but remains largely unresolved. Recently, we reported construction of robust JUN-induced PST completed in one cell cycle and whose ...
ORGANISM(S): Mus Musculus 
The transition from pluripotent to somatic states marks a critical event in mammalian development, but remains largely unresolved. Here we report the identification of SS18 as a regulator for pluripotent to somatic transition or PST by CRISPR-based whole genome screens. Mechanistically, SS18 forms m...
ORGANISM(S): Mus Musculus 
Pulmonary alveolar microlithiasis is an autosomal recessive lung disease caused by a deficiency in the pulmonary epithelial Npt2b sodium-phosphate co-transporter that results in accumulation of phosphate and formation of hydroxyapatite microliths in the alveolar space. The single cell transcriptomic...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) Mus Musculus (ncbitaxon:10090) 
2023-02-16 | MSV000091302 | MassIVE
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