Results 211 to 220 of about 455,442 (295)

A guide to transcriptional cyclin‐dependent kinases in cancer

The FEBS Journal, EarlyView.
Transcriptional cyclin‐dependent‐kinases (tCDKs) facilitate gene expression by promoting RNA polymerase II (RNAPII) progression through discrete phases of the transcription cycle. Aberrant tCDK activity is detectable in different human cancers, thereby contributing to de‐regulated gene expression programs that drive oncogenic phenotypes.
Jennifer R. Devlin, Salla Kyheröinen, Ricky W. Johnstone   +2 more
wiley   +1 more source

Comparative oligo-FISH validates genome assemblies and delivers a precise karyotype for Lens Mill. species. [PDF]

PLoS One
Silvestrini AJA, Ramsay L, von Wettberg EB, Bett KE.   +3 more
europepmc   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history. [PDF]

Rev Paul Pediatr
Moraes NM, Nunes MR, Mergener R, Silveira AKBD, Peruzzo HF, Nascimento LPC, Riegel M, Zen PRG.   +7 more
europepmc   +1 more source

Bile acids at neutral and acidic pH induce apoptosis and gene cleavages in nasopharyngeal epithelial cells: implications in chromosome rearrangement. [PDF]

BMC Cancer, 2018
Tan SN, Sim SP.
europepmc   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

The XX Factor in Hemophilia: Diagnostic, Therapeutic, and Research Gaps for Women and Girls

Haemophilia, EarlyView.
ABSTRACT Introduction Hemophilia has traditionally been viewed as an X‐linked disorder affecting men and boys, with women and girls labeled as “carriers”, presumed to be clinically unaffected. This paradigm has contributed to under‐recognition, delayed diagnosis, and undertreatment of females with hemophilia‐associated genotypes despite an increasingly
Kelsey Uminski, Ellen Cusano
wiley   +1 more source

Concurrent follicular lymphoma and follicular dendritic cell sarcoma: composite neoplasm or transdifferentiation? [PDF]

J Hematop
Hajizadeh M, Fan J, Craig JW, Obiorah IE.   +3 more
europepmc   +1 more source

Poorly differentiated lung adenocarcinomas with concurrent ALK and CD30 expression: a diagnostic pitfall mimicking ALK‐positive anaplastic large‐cell lymphoma

Histopathology, EarlyView.
Poorly differentiated lung adenocarcinomas with concurrent anaplastic lymphoma kinase (ALK) and CD30 expression closely mimic ALK‐positive anaplastic large‐cell lymphoma, creating a significant diagnostic pitfall. Accurate classification requires comprehensive integration of clinical, radiologic, morphologic, immunophenotypic and molecular findings ...
Jietian Jin, Wenjian Cen, Qin Yan, Yangshan Chen, Chaoyun Huang, Yanfeng Feng, Neng Jiang   +6 more
wiley   +1 more source

Hybrid grading systems improve progression risk stratification in non‐invasive papillary urothelial carcinoma and support a histomorphological continuum of disease progression

Histopathology, EarlyView.
Hybrid grading systems significantly improve progression‐risk stratification in non‐invasive papillary urothelial carcinoma compared with the WHO 2004/2016 binary classification, with most benefit achieved by a Hybrid 3‐Tier framework. These findings support the existence of a histomorphological continuum of progression risk within the conventional ...
Jane K Nguyen, Marcello P Toscano, Jianbo Li, Sean R Williamson, Christopher G Przybycin, Chia‐Sui Kao, Jonathan L Myles, Kristýna Pivovarčíková, Marián Švajdler, Marek Brousil, Mohamed Eltemamy, Laura Bukavina, Venkatesh Krishnamurthi, Christopher Weight, Rebecca A Campbell, Nima Almassi, Reza Alaghehbandan   +16 more
wiley   +1 more source