Results 201 to 210 of about 28,807 (313)

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee   +8 more
wiley   +1 more source

Characterization of neocentromeric marker chromosome derived from chromosome 11: a rare entity in four patients with acute leukemia. [PDF]

open access: yesChromosome Res
Mendlikova I   +9 more
europepmc   +1 more source

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

open access: yesJournal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +1 more source

Nail Toxicities Associated With Anticancer Therapies in Children

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nail toxicities are a frequent yet often underrecognized component of dermatologic adverse events in children receiving anticancer therapies. Both conventional cytotoxic chemotherapy and newer targeted agents can affect the nail matrix, nail bed and periungual tissues, producing a broad spectrum of clinical manifestations that range from ...
Luca Rapparini, Michela Starace
wiley   +1 more source

RBMX Transcriptionally Repressed by EZH2‐Associated H3K27me3 Modification Attenuates Pyroptosis in Renal Ischemia/Reperfusion Injury via Regulating SIRT3/NLRP3 Inflammasome Activation

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Ischemic reperfusion injury (IRI) to kidney is a significant clinical factor in acute kidney injury (AKI). This study aimed to investigate the new role of RNA‐binding motif protein X‐linked (RBMX), a modulator of m6A methylation, in renal IRI and to examine the associated regulatory mechanisms. An in vitro renal IRI model was established using
Yi‐Han Wang   +4 more
wiley   +1 more source

Flying fish as useful model for evolutionary investigations in epipelagic zones. A cytogenomic and cytotaxonomic approach. [PDF]

open access: yesComp Cytogenet
da Costa GWWF   +5 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy