… Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1
variant identified in three unrelated patients. The variant, p.R514H, is located in the forkhead-…

… missense variation to human TF genes documented in the general population endow quantifiable
changes to transcriptional … the functional impact of missense variation in brain TFs and …

… with congenital cataracts is the transcription factor gene MAF (v-… The MAF family of transcription
factors is divided into two … Here we report a missense variant in v-MAF, usually referred …

… Here we present an analysis of missense variants in cancer-… The missense variants of our
dataset affect tumor suppressor … of gene transcription and master transcriptional factors, such …

… Thus, we conjecture that missense variants in … missense variants in the E2F transcription
factors family (E2F1~E2F8) and performed a case-control study to test whether these variants is …

… Here, we report the identification of a missense variant in FOXF1 which segregates … variant
reduces the transcriptional efficacy of the resulting protein in vitro. We suggest that this variant …

… We identified 3833 unique missense variants that are predicted to be damaging by both
PolyPhen-2 (9) and SIFT (10) and occur at DNA-contacting residues (Fig. 4B). These values are …

… change activity of the SOHLH1 protein as a transcription factor and one variant (c.*118C>T) …
two variants in the Serbian POI cases, both were synonymous, and no missense variant was …

… We also reported that variants in the DIM domain do not … that missense variants cannot be
located in the K2, PQA, and PQS given that these domains function critically for transcriptional …

… Changes in this transcription factor activity might be a … , variants in the SREBF-1 gene may
be responsible for insulin resistance, corroborating the relevant role of this transcription factor …