Results 141 to 150 of about 8,187 (229)

Identification of <i>BRCA2</i> Likely Germline Pathogenic Variants in Patients with Multiple Primary Lung Adenocarcinomas. [PDF]

Oncol Res
Quoc Tran D, Takeda M, Sugihara E, Tsukamoto T, Hoshikawa Y, Mizutani Y, Shiogama K, Asai N, Niimi A, Sumitomo M, Saya H, Suzuki M.   +11 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Targeting SRC/STAT3 Signaling Impairs Cancer Stem Cell Activity by Downregulation of Hexokinase-2 in Radioresistant Triple-Negative Breast Cancer Cells. [PDF]

Oncol Res
Huang YH, Tu YC, Chien PJ, Lee AJ, Lin CL, Li ST, Lee YC, Chang WW.   +7 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Thermostable Bioluminescent Intercalating Dyes for Real‐Time, Integrated Nucleic Acid Amplification and Detection

Angewandte Chemie, EarlyView.
We present a bioluminescent diagnostic platform that integrates DNA amplification and detection in a single step. The engineering of thermostable luciferase‐intercalating dye conjugates and controlled release of caged luciferin substrates enable real‐time, detection of attomolar concentrations of viral DNA within 30 min.
Yosta de Stigter, Harmen J. van der Veer, Sterre de Lignie, Robbert J. de Haas, Renko de Vries, Joost P. H. Schoeber, Anne J. M. Loonen, Adriaan J. C. van den Brule, Maarten Merkx   +8 more
wiley   +2 more sources

BRAF ^<b>V600E</b> Metastatic Synovial Sarcoma Treated with BRAF & MEK Inhibitors Achieves Complete Response. A Case Report & Literature Review. [PDF]

Oncol Res
Burg D, Babkoff A, Or O, Olshinka N, Demma JA, Adila M, Wygoda M, Blumenfeld P, Diment J, Galiner M, Azraq Y, Katz D, Reissman P, Ostrowicki S, Sebbag G, Elkhateeb N, Moshe AH, Jaber D, Hollander A, Rubin L, Zick A.   +20 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Eliminate <i>Mycobacterium tuberculosis</i> via HELZ2 and up-regulating ATG16L1 to promote macrophage autophagy. [PDF]

J Med Microbiol
Wang T, Liu L, Lei Y.
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

MAS APPROACH TO POLITICAL PROSPECTION AND ALLIANCE ANALYSIS

The generalization of the Lotka-Volterra model (GLVM), to the N agents case is used in this contribution. The model is applied to model party alliances before election processes, as well as to prospect the final horizons of different candidates in ...
PROTO, Araceli N., COSTEA, Carmen
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