Results 121 to 130 of about 3,255,573 (367)

Mutation spectrum and functional analysis of epidermis‐type lipoxygenases in patients with autosomal recessive congenital ichthyosis

Human Mutation, 2005
Autosomal‐recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of severe hereditary keratinization disorders characterized by intense scaling of the whole integument, and differences in color and shape.
K. Eckl, P. Krieg, W. Küster, H. Traupe, F. André, Nadine Wittstruck, G. Fürstenberger, H. Hennies   +7 more
semanticscholar   +1 more source

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia

Journal of Neurodevelopmental Disorders, 2020
Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are relatively easier to interpret their effects on ...
Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, H. Mori, H. Kimura, T. Inada, Y. Okahisa, J. Egawa, M. Usami, I. Kushima, Mako Morikawa, T. Okada, M. Ikeda, Aleksic Branko, Daisuke Mori, T. Someya, N. Iwata, N. Ozaki   +18 more
semanticscholar   +1 more source

Dual targeting of RET and SRC synergizes in RET fusion‐positive cancer cells

Molecular Oncology, EarlyView.
Despite the strong activity of selective RET tyrosine kinase inhibitors (TKIs), resistance of RET fusion‐positive (RET+) lung cancer and thyroid cancer frequently occurs and is mainly driven by RET‐independent bypass mechanisms. Son et al. show that SRC TKIs significantly inhibit PAK and AKT survival signaling and enhance the efficacy of RET TKIs in ...
Juhyeon Son, Lily L. Remsing Rix, Bin Fang, Eric A. Welsh, Nicole V. Bremer, Valentina Foglizzo, Paola Roa, Nickole Sigcha‐Coello, Yi Liao, Eric B. Haura, Alexander Drilon, John M. Koomen, Emiliano Cocco, Uwe Rix   +13 more
wiley   +1 more source

Overlaps in brain dynamic functional connectivity between schizophrenia and autism spectrum disorder

Scientific African, 2019
Schizophrenia and autism share some genotipic and phenotypic aspects as connectome miswiring and common cognitive deficits. Currently, there are no medical tests available for either disorders, and diagnostics for both of them include direct reports of ...
Andry Andriamananjara, Rayan Muntari, Alessandro Crimi   +2 more
doaj   +1 more source

Cell surface interactome analysis identifies TSPAN4 as a negative regulator of PD‐L1 in melanoma

Molecular Oncology, EarlyView.
Using cell surface proximity biotinylation, we identified tetraspanin TSPAN4 within the PD‐L1 interactome of melanoma cells. TSPAN4 negatively regulates PD‐L1 expression and lateral mobility by limiting its interaction with CMTM6 and promoting PD‐L1 degradation.
Guus A. Franken, Andrea Abel Gutierrez, Imke van Rossum, Cornelia G. Spruijt, Michiel Vermeulen, Guido van Mierlo, Blanca Scheijen, Annemiek B. van Spriel   +7 more
wiley   +1 more source

Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin

Molecular Oncology, EarlyView.
The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla, Jan Kosla, Magdalena Prechova, Lukas Frick, Patricia Bortel, Yasmin Borutzki, Andrea Bileck, Christopher Gerner, Samuel M. Meier‐Menches, Selma Osmanagic‐Myers, Martin Gregor   +10 more
wiley   +1 more source

Explaining the Effectiveness of the Model of Established Methods in Autism (Functional Behavior Analysis of ABA, Snozlen, and Dosa) Based on the level of Attention in Children with Autism Spectrum Disorder [PDF]

, 2021
Negah Soltani Taleghani, Abdolhassan Farhangi, Seyed Ali Hosseini Almadani, Saeid Motevalli   +3 more
openalex   +1 more source

Evolutionary dynamics of the chloroplast genome in Daphne (Thymelaeaceae): comparative analysis with related genera and insights into phylogenetics

FEBS Open Bio, EarlyView.
Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah, Hui Li, Rushan Yan, Chengyu Chen, Madiha Islam, Abdul Majid, Ibrar Ahmed, Parviz Heidari, Xiaoxuan Tian   +8 more
wiley   +1 more source

Resting-State Functional Connectivity in Autism Spectrum Disorders: A Review

Frontiers in Psychiatry, 2017
Ongoing debate exists within the resting-state functional MRI (fMRI) literature over how intrinsic connectivity is altered in the autistic brain, with reports of general over-connectivity, under-connectivity, and/or a combination of both.
Jocelyn V. Hull, Lisa B. Dokovna, Zachary J. Jacokes, C. Torgerson, A. Irimia, J. V. Van Horn   +5 more
semanticscholar   +1 more source

SmallTalk: a novel small‐sized fusion tag for peptide expression and purification

FEBS Open Bio, EarlyView.
The SmallTalk fusion tag allows for the efficient expression and purification of soluble recombinant proteins or peptides in Escherichia coli. Testing with SmallTalk‐GFP confirmed that the proteins were soluble and folded correctly, while SmallTalk‐Bin1b maintained its antimicrobial activity against various bacterial isolates. This streamlined workflow
Atika Tariq, Nestor G. Casillas‐Vega, Alma Gomez‐Loredo, Xristo Zarate   +3 more
wiley   +1 more source