Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation. [PDF]
Francesca AM +10 more
europepmc +1 more source
A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen +5 more
wiley +1 more source
Conversation with Future Clinical Cytogeneticists: The New Frontiers. [PDF]
Ye JC, Chowdhury R, Heng HH.
europepmc +1 more source
Hi-C guided genome assembly and karyotype analysis of the Indian population of Maruca vitrata (Lepidoptera: Crambidae) set the stage for structural and functional genomic insights. [PDF]
Mohan M +12 more
europepmc +1 more source
To Treat or Not to Treat: Navigating Early‐Stage CLL in the Era of Targeted Therapy
ABSTRACT Chronic lymphocytic leukemia (CLL) is most frequently diagnosed at early, asymptomatic stages (Rai 0/Binet A), in which a watch‐and‐wait strategy remains the standard of care, based on historical trials demonstrating no overall survival benefit from early treatment.
Enrica Antonia Martino +16 more
wiley +1 more source
SNP-Based Chromosomal Microarray Analysis in the Era of Optical Genome Mapping: An Enriched Case-Series Evaluating Copy-Neutral Events. [PDF]
Marr AR, Gonzales PR, Golem S.
europepmc +1 more source
ABSTRACT Somatic mutations in the MAPK signaling pathway are frequently identified at AML diagnosis; however, their impact on treatment resistance and long‐term survival remains unclear. We conducted a retrospective study of patients with newly diagnosed MAPK‐mutated AML seen at the University of Iowa Health Care.
Kensuke Takaoka +6 more
wiley +1 more source
Comparative karyotype analysis of eleven species of Lilium from China using FISH with rDNA oligo-probes. [PDF]
Yang YD, Jiang XH, Zhang BY, She CW.
europepmc +1 more source
TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga +15 more
wiley +1 more source

