Results 191 to 200 of about 103,950 (258)

SKY92 Identifies High‐Risk Newly Diagnosed Multiple Myeloma With Inferior Progression‐Free Survival and Implicates NUF2 as a Candidate Driver

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Objectives To determine the prevalence and prognostic significance of the SKY92 gene‐expression signature, evaluate minimal/measurable residual disease (MRD), and identify molecular drivers of high‐risk disease in transplant‐eligible newly diagnosed multiple myeloma (TE‐NDMM) patients in the Republic of Ireland.
Roisin M. McAvera   +24 more
wiley   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

open access: yesThe FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer   +6 more
wiley   +1 more source

Redistribution of fragmented mitochondria ensures symmetric organelle partitioning and faithful chromosome segregation in mitotic mouse zygotes. [PDF]

open access: yesElife
Gekko H   +10 more
europepmc   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

open access: yesHaemophilia, 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   +6 more
wiley   +1 more source

Preimplantation Genetic Testing for Families at Risk of Haemophilia: Ten‐Year Single‐Centre Experience

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Preimplantation genetic testing for monogenic diseases (PGT‐M) is a reproductive option for couples at high risk of transmitting inherited disorders. We report a ten‐year single‐centre PGT‐M experience in families at risk of hemophilia.
Mimosa Mortarino   +6 more
wiley   +1 more source

Mechanical coordination between anaphase A and B drives asymmetric chromosome segregation

open access: yes
Dias Maia Henriques AM   +6 more
europepmc   +1 more source

Endemic but not eroded: Genomic distinctiveness and conservation genomics of the British swallowtail butterfly (Papilio machaon britannicus)

open access: yesInsect Conservation and Diversity, EarlyView.
Through whole‐genome sequencing of P. machaon populations across Europe, we demonstrate that P. m. britannicus forms a genetically distinct and isolated lineage. Demographic modelling revealed weak historical gene flow from the continent. Although P. m.
Benoit Nabholz   +6 more
wiley   +1 more source

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