Results 201 to 210 of about 747,509 (280)

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

Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation. [PDF]

Exp Dermatol
Shintani H, Ikuno Y, Kokubu H, Fujimoto S, Yamaguchi A, Takahashi T, Arakawa A, Kande Y, Naka-Kaneda H, Fujimoto N.   +9 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

Promoting readthrough of nonsense mutations in CF mouse model: Biodistribution and efficacy of NV848 in rescuing CFTR protein expression. [PDF]

Mol Ther
Fiduccia I, Corrao F, Zizzo MG, Perriera R, Genovese F, Vitale E, Ricci D, Melfi R, Tutone M, Pace A, Lentini L, Pibiri I.   +11 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

Translational Read-Through Therapy of RPGR Nonsense Mutations. [PDF]

Int J Mol Sci, 2020
Vössing C, Owczarek-Lipska M, Nagel-Wolfrum K, Reiff C, Jüschke C, Neidhardt J.   +5 more
europepmc   +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

Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations. [PDF]

J Mol Med (Berl)
Lebeda D, Fierenz A, Werfel L, Rosin-Arbesfeld R, Hofhuis J, Thoms S.   +5 more
europepmc   +1 more source

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

Integrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang, Yuehua Wang, Hang Zhang, Guiping Xu, Shixia Xu, Guang Yang   +5 more
wiley   +1 more source

Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa. [PDF]

Mol Ther Nucleic Acids
Levian B, Hou Y, Tang X, Bainvoll L, Zheng K, Badarinarayana V, Aghamohammadzadeh S, Chen M.   +7 more
europepmc   +1 more source