A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab‐GTPase Regulation in Neurodevelopmental Disorder
Sign Up to like & getrecommendations! Published in 2025 at "Developmental Neurobiology"
DOI: 10.1002/dneu.22998
Abstract: Recent reports have linked biallelic loss‐of‐function variants in the TBC1D2B gene to neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) (OMIM 619323), a rare condition characterized by seizures and gingival hyperplasia. However, due to the… read more here.
Keywords: variant; disorder; functional domains; neurodevelopmental disorder ... See more keywords
A novel GO/PNIPAm hybrid with two functional domains can simultaneously effectively adsorb and recover valuable organic and inorganic resources
Sign Up to like & getrecommendations! Published in 2018 at "Chemical Engineering Journal"
DOI: 10.1016/j.cej.2018.03.015
Abstract: Abstract Competing for adsorption active sites decrease the efficiency of simultaneous adsorption of co-existent adsorbates. On the other hand, different adsorbates being desorbed at the same eluting condition will cause they are mixed together after… read more here.
Keywords: adsorption; organic inorganic; two functional; hybrid two ... See more keywords
Functional domains of the FgfrL1 receptor.
Sign Up to like & getrecommendations! Published in 2020 at "Developmental biology"
DOI: 10.1016/j.ydbio.2020.01.003
Abstract: FgfrL1 is a novel growth factor receptor that is primarily expressed in musculoskeletal tissues and the kidney. FgfrL1-deficient mice have a malformed diaphragm and no kidneys. Such animals die immediately after birth because they are… read more here.
Keywords: fgfrl1 receptor; domains fgfrl1; mice lacking; functional domains ... See more keywords
Tracking and Visualization of Functional Domains in Stratified Metal–Organic Frameworks Using Gold Nanoparticles
Sign Up to like & getrecommendations! Published in 2020 at "ACS Central Science"
DOI: 10.1021/acscentsci.9b01205
Abstract: We report here a new technique for the identification and visualization of functional domains in stratified metal–organic frameworks (MOFs). The technique, namely, gold diffusion enabled domain identification, utilizes the diffusion of Au nanoparticles within MOF… read more here.
Keywords: metal organic; visualization functional; organic frameworks; domains stratified ... See more keywords
A comparative pan-genomic analysis of 53 C. pseudotuberculosis strains based on functional domains
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2020.1805017
Abstract: Abstract Corynebacterium pseudotuberculosis is a pathogenic bacterium with great veterinary and economic importance. It is classified into two biovars: ovis, nitrate-negative, that causes lymphadenitis in small ruminants and equi, nitrate-positive, causing ulcerative lymphangitis in equines.… read more here.
Keywords: analysis; pseudotuberculosis strains; pseudotuberculosis; functional domains ... See more keywords
Minimal functional domains of the core polarity regulator Dlg
Sign Up to like & getrecommendations! Published in 2022 at "Biology Open"
DOI: 10.1101/2022.04.29.490107
Abstract: The compartmentalized domains of polarized epithelial cells arise from mutually antagonistic actions between the apical Par complex and the basolateral Scrib module. In Drosophila, the Scrib module proteins Scribble (Scrib) and Discs-large (Dlg) are required… read more here.
Keywords: dlg; minimal functional; functional domains; scrib ... See more keywords
Caregiver‐reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed‐methods design
Sign Up to like & getrecommendations! Published in 2025 at "Developmental Medicine and Child Neurology"
DOI: 10.1111/dmcn.16363
Abstract: To investigate how caregivers of children with developmental and epileptic encephalopathy and severe developmental impairments describe meaningful change for functional domains and why it is important. read more here.
Keywords: epileptic encephalopathy; developmental epileptic; meaningful change; functional domains ... See more keywords
Trypanosoma brucei RAP1 Has Essential Functional Domains That Are Required for Different Protein Interactions
Sign Up to like & getrecommendations! Published in 2020 at "mSphere"
DOI: 10.1128/msphere.00027-20
Abstract: Trypanosoma brucei causes human African trypanosomiasis and regularly switches its major surface antigen, VSG, to evade the host immune response. VSGs are expressed from subtelomeres in a monoallelic fashion. TbRAP1, a telomere protein, is essential… read more here.
Keywords: interaction; tbrap1; rap1; functional domains ... See more keywords
Abstract 1383: A CRISPR-Cas9 tiling screen to identify functional domains within DNMT1 and/or DNMT3B that can be targeted for therapeutic intervention in AML
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-1383
Abstract: DNA methylation is an epigenetic mechanism that regulates gene expression during many stages of development, including genomic imprinting, stem cell regulation, and X-chromosome inactivation. Moreover, aberrant DNA methylation patterns, characterized by genome-wide hypomethylation and promoter-specific… read more here.
Keywords: cas9 tiling; tiling screen; crispr cas9; dnmt1 dnmt3b ... See more keywords
Discovery, structural characteristics and evolutionary analyses of functional domains in Acinetobacter baumannii phage tail fiber/spike proteins
Sign Up to like & getrecommendations! Published in 2025 at "BMC Microbiology"
DOI: 10.1186/s12866-025-03790-2
Abstract: The global rise in multidrug-resistant Acinetobacter baumannii infections poses a significant healthcare challenge. Bacteriophage offer a promising alternative to antibiotics for treating A. baumannii infections. Phage tail fiber and spike proteins are essential for host… read more here.
Keywords: spike proteins; phage; functional domains; fiber spike ... See more keywords
Functional Domains of the Early Proteins and Experimental and Epidemiological Studies Suggest a Role for the Novel Human Polyomaviruses in Cancer
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Microbiology"
DOI: 10.3389/fmicb.2022.834368
Abstract: As their name indicates, polyomaviruses (PyVs) can induce tumors. Mouse PyV, hamster PyV and raccoon PyV have been shown to cause tumors in their natural host. During the last 30 years, 15 PyVs have been… read more here.
Keywords: functional domains; role; early proteins; proteins experimental ... See more keywords