Results 191 to 200 of about 1,572,926 (319)

Allele specific expression in Alzheimer's disease. [PDF]

Alzheimers Dement
Wang Z, Hossain D, Wang JJ, Subramaniam VR, Zhang B, Wang M, Huang KL.   +6 more
europepmc   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease. [PDF]

Elife
Howard CJ, Abell NS, Warneford-Thomson RR, Mahdavi E, Su AL, Resnick C, Mohammed N, Thompson EM, Holzinger ER, Catalano K, Hukku A, Mintier GA, MacKenzie M, Jiang BL, Barbosa Rabago D, Chan A, Ntimi C, Weiler KN, Wilson SC, Maranville JC, Sheth PR, Plenge RM, Kosuri S, Dickel DE.   +23 more
europepmc   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study. [PDF]

Eur J Pediatr
Wang B, Ji X, Wu F, Shen M, Zheng P, Feng S, Wu H, Li S, Liu A, Xie L, Zhang X, Chen Q.   +11 more
europepmc   +1 more source

EPILEPTIC VARIANTS [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1928
openaire   +2 more sources

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex. [PDF]

BMC Pediatr
Othman AA, Sadek AA, Aladawy MA, Aziz SP, Sedky A, Mansour TMM, Younis MMS, Abdelatif RG, Hassan AEM, Aboelmagd MA, Mohamed M, Mohamed KR, Elkousy SM, Montaser Elkady NM, Khang R, Ryu SW, Abdelkreem E.   +16 more
europepmc   +1 more source

E2A selectively regulates TGF‐β–induced apoptosis in KRAS‐mutant non‐small cell lung cancer

Molecular Oncology, EarlyView.
Ability to induce apoptosis by TGF‐β is frequently lost in advanced lung adenocarcinoma despite intact TGF‐β signaling. We identify E2A as a mutant KRAS–dependent mediator of resistance to TGF‐β–induced apoptosis. TGF‐β induces E2A via SMAD3 in mutant KRAS cells, and E2A silencing restores apoptosis and enhances radiation response in cell lines ...
Sergei Chuikov, Shiva Krishna Katkam, Zhefan Wang, Venkateshwar G. Keshamouni   +3 more
wiley   +1 more source

Novel genetic variants in tuberculosis-associated immune reconstitution inflammatory syndrome. [PDF]

Am J Respir Crit Care Med
Wieder C, Horswell S, Kelly G, Stek C, Moseki R, Rossi-Smith P, Ebbels TMD, Wilkinson RJ, Meintjes G, Lai RPJ.   +9 more
europepmc   +1 more source