Results 181 to 190 of about 63,140 (263)

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

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

Precision Medicine in a Patient With Multiple Myeloma Presenting With t(2;11) and <i>CCND1</i> Overexpression. [PDF]

EJHaem
Siegel A, Ray C, Mehrotra M, Petersen B, Jagannath S, Parekh S, Houldsworth J, Jay Cho H.   +7 more
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

MPRIP::PDGFRB fusion identified in a male patient with a myeloid/lymphoid neoplasm with eosinophilia. [PDF]

Ann Hematol
Gao M, Bachiashvili K, Jamy O, Harada S, Mackinnon AC, Ravindran A, Chen Y, Carroll AJ, Mikhail FM.   +8 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

Recurrent Chromosome Destabilization Through Repeat-Mediated Rearrangements in a Fungal Pathogen. [PDF]

Genome Biol Evol
Fouché S, Oggenfuss U, McDonald BA, Croll D.   +3 more
europepmc   +1 more source

A novel classification of testicular sex cord‐stromal tumours from the Testicular Sex Cord‐Stromal Tumour (TESST) group: a collaboration of the Genitourinary Pathology Society (GUPS) and the International Society of Urological Pathology (ISUP)

Histopathology, EarlyView.
The TESST classification of testicular sex cord‐stromal tumours was agreed upon by consensus based on the best available evidence. The picture shows the members of the TESST group and delegates of GUPS and ISUP present in‐person at the first meeting of the group held at Johns Hopkins Hospital (Baltimore, 2024). Aims Testicular sex cord‐stromal tumours (
Andres M. Acosta, Felix Bremmer, John C. Cheville, Maurizio Colecchia, Eva Comperat, Kristine Cornejo, Dilek E. Baydar, Anthony J. Gill, Maria del Pilar Gonzalez‐Peramato, Sounak Gupta, Michelle S. Hirsch, Muhammad T. Idrees, Chia‐Sui Kao, Fiona MacLean, Andres Matoso, Rohit Mehra, Santosh Menon, Kvetoslava Michalova, Sambit K. Mohanty, Miguel Reyes‐Mugica, Maria Rosaria Raspollini, Ankur R. Sangoi, Lynette M. Sholl, Stephanie Siegmund, Satish K. Tickoo, Toyonori Tsuzuki, Thomas M. Ulbright, Sean R. Williamson, Asli Yilmaz, Daniel M. Berney   +29 more
wiley   +1 more source

Persistent <i>BCR::ABL1</i>-positive preleukemic stem cells drive late clonal evolution in Philadelphia chromosome-positive ALL. [PDF]

Hemasphere
Martin JE, Cliquot J, Kim R, Mathis S, Cayuela JM, Passet M, Gaillard B, Himberlin C, Baruchel A, Itzykson R, Soulier J, Boissel N, Raffoux E, Cornillet-Lefebvre P, Clappier E.   +14 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