Results 101 to 110 of about 45,307 (198)

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues

Nature Communications
Abstract Homeodomains (HDs) are the second largest class of DNA binding domains (DBDs) among eukaryotic sequence-specific transcription factors (TFs) and are the TF structural class with the largest number of disease-associated mutations in the Human Gene Mutation Database (HGMD).
Kian Hong Kock, Patrick K. Kimes, Stephen S. Gisselbrecht, Sachi Inukai, Sabrina K. Phanor, James T. Anderson, Gayatri Ramakrishnan, Colin H. Lipper, Dongyuan Song, Jesse V. Kurland, Julia M. Rogers, Raehoon Jeong, Stephen C. Blacklow, Rafael A. Irizarry, Martha L. Bulyk   +14 more
openaire   +3 more sources

Ginkgolide a enhances the resistance to pathogen infection through mitochondrial unfolded protein response

Cellular and Molecular Life Sciences
The normal function of mitochondria plays a key role in innate immunity. Normally, changes in the internal and external environment will lead to mitochondrial stress, and then the body will produce mitochondrial unfolded protein response (UPRmt) to ...
Yingwen Cui, Rujia Wang, Xie Li, Guohui Bai, Yi Xiao   +4 more
doaj   +1 more source

Structure, function, and pathology of PHF23

Frontiers in Cell and Developmental Biology
Plant Homeodomain Finger Protein 23 (PHF23) is a member of the Plant Homeodomain (PHD) finger protein family and has been extensively reported since its discovery.
Linlin Liu, Linlin Liu, Rui Zhang, Rui Liu, Yu Liu, Yanming Ren   +5 more
doaj   +1 more source

A conserved C. elegans zinc finger homeodomain protein, ZFH-2, is continuously required for the structural integrity and function of the alimentary tract and gonad. [PDF]

Development
Sussfeld A, Vidal B, Sural S, Merritt DM, Aguilar GR, Ramadan YH, Hobert O.   +6 more
europepmc   +1 more source

A Novel <i>LMX1A</i> Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7. [PDF]

Hum Mutat
Xu C, Nie Z, Wang S, Zhu Y, Liu X, Guo Y.   +5 more
europepmc   +1 more source

Patterns of Conservation and Loss of Hox Genes in Xenacoelomorph Lineage Since Divergence From Last Common Bilaterian Ancestor. [PDF]

Genome Biol Evol
Buckenmeyer A, Abalde S, Ryan JF, Jondelius U.   +3 more
europepmc   +1 more source

Modelling a pathological GSX2 variant that selectively alters DNA binding reveals hypomorphic mouse brain defects

Disease Models & Mechanisms
Laura Tweedie, Matthew R. Riccetti, Brittany Cain, Shenyue Qin, Joseph Salomone, Jordan A. Webb, Amy Riesenberg, Lisa A. Ehrman, Ronald R. Waclaw, Rhett A. Kovall, Brian Gebelein, Kenneth Campbell   +11 more
doaj   +1 more source

Recognition of a Critical Functional Domain and Improved <i>PHOX2B</i> Missense Variant Interpretation by Utilization of In Silico Prediction Tools. [PDF]

Hum Mutat
Drackley A, Skol AD, Rand CM, Weese-Mayer DE, Yap KL.   +4 more
europepmc   +1 more source

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy. [PDF]

Cureus
Pagán-Melvin C, Izquierdo N, Alejandro KC.   +2 more
europepmc   +1 more source

Cellular Functional Analyses of <i>ARX</i> Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients. [PDF]

Hum Mutat
Faraj R, Farrugia A, Hurst ACE, Conan P, Martin J, Schalk A, Redon S, Dubos A, Gras M, Curie A, Voisset C, Friocourt G.   +11 more
europepmc   +1 more source