Jennifer E. Posey

Jan 10, 2025 | cell.com | Ivan K. Chinn |Jonathan May |Anu Goenka |Kate Chandler |Jennifer E. Posey |Alexandra Afenjar | +88 more

Keywords BCL11B C2H2-type zinc finger protein recognition code genotype-phenotype correlation type 2 innate lymphoid cells Introduction Proteins containing a Cys2-His2 zinc-finger domain (C2H2-ZnF) constitute the largest class of human transcription factors.1 They act by either repressing or activating the expression of target genes through binding a specific DNA sequence by their tandem and modular C2H2-ZnFs. Each C2H2-ZnF shares a consensus sequence that folds in the presence of zinc (Zn2+)...

Jan 10, 2025 | cell.com | Ivan K. Chinn |Jonathan May |Anu Goenka |Kate Chandler |Jennifer E. Posey |Alexandra Afenjar | +88 more

Keywords BCL11B C2H2-type zinc finger protein recognition code genotype-phenotype correlation type 2 innate lymphoid cells Introduction Proteins containing a Cys2-His2 zinc-finger domain (C2H2-ZnF) constitute the largest class of human transcription factors.1 They act by either repressing or activating the expression of target genes through binding a specific DNA sequence by their tandem and modular C2H2-ZnFs. Each C2H2-ZnF shares a consensus sequence that folds in the presence of zinc (Zn2+)...

May 10, 2024 | digitalcommons.library.tmc.edu | Samantha Baxter |Jennifer E. Posey |Nicole J Lake |Nara Sobreira

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.