Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
E Sollis, P Deriziotis, H Saitsu, N Miyake… - Human …, 2017 - Wiley Online Library
… 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-…
variant identified in three unrelated patients. The variant, p.R514H, is located in the forkhead-…
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease
JIT Heng, L Viti, K Pugh, OJ Marshall… - Journal of …, 2022 - Wiley Online Library
… 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 …
changes to transcriptional … the functional impact of missense variation in brain TFs and …
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp …
S Javadiyan, JE Craig, S Sharma, KM Lower… - BMC medical …, 2017 - Springer
… 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 …
factors is divided into two … Here we report a missense variant in v-MAF, usually referred …
Analysis and interpretation of the impact of missense variants in cancer
… 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 …
dataset affect tumor suppressor … of gene transcription and master transcriptional factors, such …
[HTML][HTML] Identification of a low-frequency missense variant in E2F transcription factor 7 associated with colorectal cancer risk in a chinese population
AY Guo, K Zhai, JL Xu, JL Hu, L Gao - Asian Pacific Journal of …, 2017 - ncbi.nlm.nih.gov
… 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 …
factors family (E2F1~E2F8) and performed a case-control study to test whether these variants is …
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on …
KV Everett, P Ataliotis, BA Chioza, C Shaw-Smith… - Pediatric …, 2017 - nature.com
… 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 …
reduces the transcriptional efficacy of the resulting protein in vitro. We suggest that this variant …
Survey of variation in human transcription factors reveals prevalent DNA binding changes
… 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 …
PolyPhen-2 (9) and SIFT (10) and occur at DNA-contacting residues (Fig. 4B). These values are …
[HTML][HTML] Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency
S Zhao, G Li, R Dalgleish, S Vujovic, X Jiao, J Li… - Fertility and …, 2015 - Elsevier
… 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 …
two variants in the Serbian POI cases, both were synonymous, and no missense variant was …
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
CA Calvache, EC Vásquez, VI Romero… - Frontiers in …, 2022 - frontiersin.org
… 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 …
located in the K2, PQA, and PQS given that these domains function critically for transcriptional …
A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein‐1
S Vernia, D Eberlé, AH Mijares, F Foufelle… - Human …, 2006 - Wiley Online Library
… 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 …
be responsible for insulin resistance, corroborating the relevant role of this transcription factor …
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