Results 191 to 200 of about 640,277 (286)

Poetry, nonsense and childhood. A didactic journey into the nonsense poetry of Toti Scialoja in early childhood education.

reservedIl presente elaborato si propone di esaminare il complesso “territorio” della poesia e della sua relazione con il mondo dell’infanzia, approfondendo in particolar modo il lavoro poetico nonsense di Toti Scialoja. Inizialmente si ripercorrerà lo
CAMPIGOTTO, LAURA
core  

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source

A novel <i>de novo IL2RG</i> nonsense mutation in a pediatric patient with X-linked severe combined immunodeficiency. [PDF]

Front Genet
Wang L, Ren A, He Y, Wang L, Wang S, Xie X, Tan M, Chen Y, Huang P, Du Z.   +9 more
europepmc   +1 more source

TP53 mutations orchestrate partial EMT states in oral squamous cell carcinoma: spatially resolved and in vitro preliminary insights into tumour plasticity

The Journal of Pathology, EarlyView.
Abstract TP53 is the most frequently mutated gene in oral squamous cell carcinoma (OSCC); however, its role in promoting epithelial–mesenchymal transition (EMT) and tumour progression remains unclear, particularly within the context of intra‐tumour heterogeneity.
Rana Alaaeldin Ibrahim, Hong Wan, Raju Kumar, Muy‐Teck Teh, Angray Kang, Emma Bailey, Hannah Cottom, Adrian Biddle, Inês Sequeira, Farida Fortune   +9 more
wiley   +1 more source

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in <i>LAMA3</i> Revealed by 18q11.2 Microdeletion. [PDF]

Int J Mol Sci
Iacoviello M, Piglionica M, Tabaku O, Garganese A, De Marco A, Cardinale F, Bonamonte D, Resta N.   +7 more
europepmc   +1 more source

In‐frame variants in TP53 gene identified in adult leukemia samples are predominantly deleterious: a study of the TP53 Network of Education and Research Initiative on CLL

The Journal of Pathology, EarlyView.
Abstract The prognostic and predictive impact of TP53 variants in leukemia led to their inclusion in diagnostic and treatment guidelines, increasing the demand for rapid, reliable laboratory analysis, interpretation, and reporting. While most TP53 variants identified in tumor samples can be interpreted using data from large‐scale functional studies ...
Šárka Pavlová, Johana Gombíková, Silvia Petrezsélyová, Libor Macůrek, Marcela Ženatová, Marie Zádrapová, Anna Panovská, Eva Zapletalová, Blanca Ferrer Lores, Alicia Serrano Alcalá, Eugen Tausch, Stephan Stilgenbauer, Fanny Baran‐Marszak, Gregory Lazarian, Miguel Alcoceba, Ana Balanzategui, Lisa Bonello, Ivana Ježíšková, Martina Sopkovičová, Silvia Zibellini, Marzia Varettoni, Audrey Bidet, Helena Podgornik, Sandra Šućurović, Riccardo Moia, Mónica López‐Guerra, Mark Catherwood, Šárka Pospíšilová, Jitka Malčíková   +28 more
wiley   +1 more source

Identification and functional characterization of a novel nonsense mutation of <i>CASR</i> gene in a familial hypocalciuric hypercalcemia pedigree. [PDF]

Genes Dis
Tian Y, Liu B, Xudan Y, Qiu R, Shaojun Z, Haoshu H, Fang W, Zheng F.   +7 more
europepmc   +1 more source

Folklore Studies, Fieldwork and the Making of a Domestic Anthropology in Fin‐de‐Siècle Britain

History, EarlyView.
Abstract This article follows the ‘communities of knowledge‐making’ that formed around folklore collection at the end of the nineteenth century. Often regarded as eccentric or marginal figures in the history of human science, these collectors in fact engaged in lively and sophisticated discussions about the methodologies needed to study the mental ...
HARRY PARKER
wiley   +1 more source

Sixteen Years Later: Revisiting Cultural Complexes and the Roots of Archetypal Thematic Analysis (ATA)1

Journal of Analytical Psychology, EarlyView.
Abstract Written as a letter to my 28‐year‐old self, this paper explores the development of my engagement with cultural complexes. On August 18, 2009, I finished a chapter applying cultural complexes to a history of China, complete with elaborate charts that seemed to confirm a process by which cultural complexes are formed, and how China’s then recent
Kevin Lu
wiley   +1 more source

Precision therapeutic tRNA rescue of nonsense mutation R166X in <i>KCNJ13</i> to restore K⁺ channel function. [PDF]

J Precis Med (Amst)
Spillane A, Akyuz E, Kabra M, Sinha D, Soref C, Gissot L, Al Saneh A, Pillala SK, Shahi PK, Saha K, Gamm DM, Ahern CA, Pattnaik BR.   +12 more
europepmc   +1 more source