Results 151 to 160 of about 51,568 (249)

Mechanisms underpinning the progression of nondysplastic Barrett's oesophagus to cancer

The FEBS Journal, EarlyView.
Barrett's oesophagus confers a low but significant cancer risk. The condition is common but we do not have effective biomarkers to identify susceptible patients. We believe that there is no single factor that determines cancer risk and an understanding of the combinations of interactions (via gene expression and natural selection) between the Barrett's
Yannick H. Derwa, Meng‐Lay Lin, Stuart A. C. McDonald   +2 more
wiley   +1 more source

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

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

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

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing. [PDF]

Hum Mutat
Qin S, Wang X, Wang J, Leng X, Zhang Z, Chen X, Yin Y.   +6 more
europepmc   +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

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

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report. [PDF]

Clin Case Rep
Zhou D, Lian W, Wang H, Huang R, Deng J, Jiao S, Zhou Q.   +6 more
europepmc   +1 more source

Cancer-associated fusion transcripts: mechanisms, functional roles, and clinical implications. [PDF]

Clin Exp Med
Hossain MF.
europepmc   +1 more source