Results 241 to 250 of about 123,356 (289)

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

molIEreVIS: exploring and interpreting the evidence behind drug repurposing predictions. [PDF]

Front Bioinform
Alnouri A, Hinterreiter A, Steinparz C, Bajraktari L, Burgstaller-Muehlbacher S, Bauer M, Alanis-Lobato G, Streit M.   +7 more
europepmc   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Large language model agents for biological intelligence across genomics, proteomics, spatial biology, and biomedicine. [PDF]

Brief Bioinform
Dip SA, Mallick D, Acharjee Shuvo U, Barua Soumma S, Rafsani F, Kumar Paul B, Ahmed Moumi N, Ahmed S, Zhang L.   +8 more
europepmc   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Xenbase: 25 years of integrating molecular and biomedical data from Xenopus. [PDF]

Genetics
Chu S, Bell AJ, Lotay V, Ly N, Pells TJ, Kwon T, Agalakov S, Ponferrada V, Lenz C, James-Zorn C, Arshinoff B, Segerdell E, Wang D, Thorner K, Wasmuth JD, Fisher M, Karimi K, Zorn AM, Vize PD.   +18 more
europepmc   +1 more source

Energy metabolism, adenosine, and glutamate signaling reprogramming by decanoic acid in Glut1 disorder syndrome

Epilepsia Open, EarlyView.
Abstract Glut1 deficiency syndrome (Glut1DS) leads to neurological and cognitive symptoms and is primarily treated using carbohydrate‐restricted ketogenic diets. However, a recent clinical trial of a less restrictive, non‐ketogenic, medium chain triglyceride (MCT) diet with a high decanoic acid content suggests efficacy in Glut1DS treatment.
Erwann Pain, Yatra Kapatel, Pankaj K. Singh, Katie Lloyd Jones, Jamuna Selvakumaran, Alberto Malerba, Walter Lucchesi, Tricia Rutherford, Christina A. Gurnett, Matthew C. Walker, Robin S. B. Williams   +10 more
wiley   +1 more source

Integrating text mining and knowledge graph to enhance biopharmaceutical process optimization. [PDF]

PLoS One
Bhowmik S, Anandakrishnan M, Klein L, Arighi C, Gioioso M, Wu C, Brockmeier A, Vijay-Shanker K, Chen C.   +8 more
europepmc   +1 more source

RNA-KG v2.0: an RNA-centered Knowledge Graph with Properties. [PDF]

NAR Genom Bioinform
Cavalleri E, Perlasca P, Mesiti M.
europepmc   +1 more source

An application-based ontological knowledge base of medications to support health literacy and adherence for the consumer population: an aging population use case. [PDF]

J Biomed Semantics
Chen C, Amith M, Roberts K, Mauldin R, Komalasari R, Tao C.   +5 more
europepmc   +1 more source