Results 91 to 100 of about 2,120,679 (341)

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease‐causing mutations in patients with SSADH deficiency

Human Mutation, 2003
Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe.
S. Akaboshi, B. Hogema, A. Novelletto, P. Malaspina, G. Salomons, G. Maropoulos, C. Jakobs, M. Grompe, K. Gibson   +8 more
semanticscholar   +1 more source

Intein‐based modular chimeric antigen receptor platform for specific CD19/CD20 co‐targeting

Molecular Oncology, EarlyView.
CARtein is a modular CAR platform that uses split inteins to splice antigen‐recognition modules onto a universal signaling backbone, enabling precise, scarless assembly without re‐engineering signaling domains. Deployed here against CD19 and CD20 in B‐cell malignancies, the design supports flexible multi‐antigen targeting to boost T‐cell activation and
Pablo Gonzalez‐Garcia, Noelia Moares, Wenjie Yi‐He, Rosa Luna‐Espejo, Ricardo Fernandez‐Cisnal, Javier Ocaña‐Cuesta, Juan P. Muñoz‐Miranda, Antonio Gabucio, Cecilia M. Fernandez‐Ponce, Francisco Garcia‐Cozar   +9 more
wiley   +1 more source

A Knowledge-Driven Framework Discovers Brain ACtivation-Transition-Spectrum (ACTS) Features for Parkinson’s Disease

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Dopaminergic treatment has proved effective to Parkinson’s disease (PD), but the conventional treatment assessment is human-administered and prone to intra- and inter-assessor variability. In this paper, we propose a knowledge-driven framework and
Jiewei Lu, Jin Wang, Yuanyuan Cheng, Zhilin Shu, Yue Wang, Xinyuan Zhang, Zhizhong Zhu, Yang Yu, Jialing Wu, Jianda Han, Ningbo Yu   +10 more
doaj   +1 more source

The patent foramen ovale may alter migraine brain activity: A pilot study of electroencephalography spectrum and functional connectivity analysis [PDF]

, 2023
Xiangyu Lei, Meng Wei, Qi Long Yi, Liang Wang, Chen-Yu Liu, Yichen Guo, Yue Xu, Xiangqi Cao, Rui Liu, Guogang Luo   +9 more
openalex   +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

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

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