Results 281 to 290 of about 1,266,792 (389)

Expanding and refining the Mammalian Phenotype Ontology to enhance disease model discovery.

Dis Model Mech
Bello SM, Anagnostopoulos AV, Carmody LC, Matentzoglu N, Smith CL.   +4 more
europepmc   +1 more source

Special Issue "Molecular Advances in Heart Disease: Genomics, Proteomics, and Bioinformatics of Heart Research". [PDF]

Int J Mol Sci
Fert-Bober J.
europepmc   +1 more source

Nurse-led ontology construction: A design science approach [PDF]

, 2016
Philip John Shields
openalex  

Ontology in Immunology

Transplantation, 2016
Lord P, Hilkens C
openaire   +3 more sources

Single‐Nucleus RNA Sequencing Reveals Mid‐Gestational Neurodevelopment Features in the Superior Temporal Plane from Fetuses with Nonsyndromic Cleft Lip and Palate

Advanced Science, EarlyView.
Single‐nucleus RNA sequencing of mid‐gestation brains from fetuses with nonsyndromic cleft lip and palate reveals major disruptions in cell composition, cell‐to‐cell signaling, and gene regulation. The transcription factor MEF2C is identified as a central regulator of these changes and shows that lowering MEF2C impairs synapse formation, linking cleft ...
Liu‐Lin Xiong, Xin‐Wei Huang, Qiu‐Xia Xiao, Ying‐Gang Zheng, Hao‐Yue Qin, Chang‐Le Fang, Li Chen, Ruo‐Lan Du, Qiu‐Lin Wang, Li‐Ren Huangfu, Ye‐Qing Fei, Yang‐Yang Zhao, Chen‐Yang Zhai, Ze‐Mian Chen, Shi‐Kun Yuan, Yu‐Ji Zhou, Xing‐Man He, Ting‐Ting Zhi, Xiao‐He Tian, Ting‐Hua Wang   +19 more
wiley   +1 more source

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases. [PDF]

EBioMedicine
Chimirri L, Caufield JH, Bridges Y, Matentzoglu N, Gargano M, Cazalla M, Chen S, Danis D, Dingemans AJM, Gehle K, Gehle P, Graefe ASL, Gu W, Ladewig MS, Lapunzina P, Nevado J, Niyonkuru E, Ogishima S, Seelow D, Tenorio Castaño JA, Turnovec M, de Vries BBA, Wang K, Wissink K, Yüksel Z, Zucca G, Haendel MA, Mungall CJ, Reese J, Robinson PN.   +29 more
europepmc   +1 more source

ORKA: An Ontology for Robotic Knowledge Acquisition

Mark Adamik, Romana Pernisch, Ilaria Tiddi, Stefan Schlobach   +3 more
openalex   +2 more sources

First day of the ISMB Bio-Ontologies Meeting: useful tools in the data-deluge.

, 2011
Scott Edmunds
openalex   +1 more source

NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex

Advanced Science, EarlyView.
The primary neurological manifestations of tuberous sclerosis complex (TSC) are intractable epilepsy and intellectual disability. NEAT1 is differentially expressed in TSC‐related epilepsy and influences neuronal excitability by regulating the PI3K/AKT/mTOR signaling pathway.
Suhui Kuang, Tinghong Liu, Zhirong Wei, Jinshan Xu, Jiayi Han, Jiaqi Wang, Feng Zhai, Yiran Tian, Shuli Liang   +8 more
wiley   +1 more source

Database Release: PPSDB, a Linked Open Data Knowledge Base for Protist-Prokaryote Symbioses. [PDF]

J Eukaryot Microbiol
Seah BKB.
europepmc   +1 more source