Stephenie Droll
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View article: Oh, the Mutations You’ll Acquire! A Systematic Overview of Cutaneous Squamous Cell Carcinoma
Oh, the Mutations You’ll Acquire! A Systematic Overview of Cutaneous Squamous Cell Carcinoma Open
Nearly two million cases of cutaneous squamous cell carcinoma (cSCC) are diagnosed every year in the United States alone. cSCC is notable for both its prevalence and its propensity for invasion and metastasis. For many patients, surgery is…
View article: <i>ASXL1</i> and <i>STAG2</i> are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome
<i>ASXL1</i> and <i>STAG2</i> are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome Open
Patients with GATA2 deficiencyharbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family membe…
View article: miR-181c regulates MCL1 and cell survival in GATA2 deficient cells
miR-181c regulates MCL1 and cell survival in GATA2 deficient cells Open
GATA2 is a transcription factor critical for hematopoiesis. Germline mutations in GATA binding protein 2 (GATA2) led to haploinsufficiency, severe cytopenias of multiple cell lineages, susceptibility to infections and strong propensity to …
View article: Differential processing of high‐molecular‐weight kininogen during normal pregnancy
Differential processing of high‐molecular‐weight kininogen during normal pregnancy Open
Rationale Studies identified kininogen as a potential biomarker of preeclampsia, a major cause of adverse maternal outcomes. High‐molecular‐weight kininogen (HK) and its activated form participate in numerous pathways associated with estab…
View article: Donor-derived MDS/AML in families with germline GATA2 mutation
Donor-derived MDS/AML in families with germline GATA2 mutation Open
TO THE EDITOR:
GATA2 encodes a zinc-finger transcription factor that is required for proliferation and survival of hematopoietic stem cells.[1][1] First described in 2011, germline heterozygous mutations in GATA2 lead to haploinsufficienc…