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Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder. … A few years ago, Emily* … were told that they also had a variant of a gene called RUNX1 that was associated with a platelet disorder.  The … to others. “We realized that we had another cousin with a RUNX1 variant diagnosis in the last year, but they didn’t …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… a rare genetic disease caused by germline mutations in RUNX1 . More information can be found on the NIH RUNX1-FPD Clinical Research Study page . Dr. Liu has received … inversions and deletions. Two genes, CBFB and RUNX1 , which encode proteins (CBFb and RUNX1, respectively) …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… A RUNX1 Longitudinal Natural History Study was launched by a … and long-term clinical research of patients with germline RUNX1 mutations and their families in order to achieve better … and hopefully develop new therapies. People with germline RUNX1 mutations develop a genetic disease called familial …
File
… 1 NIH RUNX1 Natural History Study Summer 2020 page 1 Dear RUNX1 Natural History Study Participant, Welcome to the first … Thank you very much for your participation in the NIH RUNX1 Study! Sincerely, Study on the Impact of COVID on …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… or chromosomal rearrangements of the core binding factors, RUNX1 and CBFB. For studies aimed at understanding the … genes. Through the study of mutations in gata1 and runx1 , two of the major transcriptional regulators of … Liu P. 2021. Redundant mechanisms driven independently by RUNX1 and GATA2 for hematopoietic development . Blood …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… AG, Horwitz MS, Cheng L, Liu PP. Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent …
File
… Paving the Road: A RUNX1 Communication Guide for Parents …