Results 41 to 50 of about 661,394 (254)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan   +6 more
wiley   +1 more source

CFB Goose Bay and Operation “Desert Shield” [PDF]

open access: yes, 2012
Canada committed forces to the American-led Coalition in the 1990–1991 campaign to liberate Kuwait (Operation DESERT SHIELD and Operation DESERT STORM).
McKay, James R.
core   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters   +17 more
wiley   +1 more source

Genotypic confirmation of a biased phenotypic sex ratio in a dryland moss using restriction fragment length polymorphisms

open access: yesApplications in Plant Sciences, 2022
Premise In dioicous mosses, sex is determined by a single U (female, ♀) or V (male, ♂) chromosome. Although a 1 : 1 sex ratio is expected following meiosis, phenotypic sex ratios based on the production of gametangia are often female‐biased.
Jenna T. B. Ekwealor   +7 more
doaj   +1 more source

Spatial and temporal structure of the spider community in the clay semi-desert of western Kazakhstan [PDF]

open access: yes, 2011
The spatial and temporal structure of spider communities was studied in the clay semi-desert of the north-western Caspian Lowland, western Kazakhstan (49°23' N, 46°47' E).
Piterkina, Tatyana V.
core   +2 more sources

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

open access: yesFEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes   +3 more
wiley   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

Characterization of the transcriptome, nucleotide sequence polymorphism, and natural selection in the desert adapted mouse Peromyscus eremicus [PDF]

open access: yes, 2014
As a direct result of intense heat and aridity, deserts are thought to be among the most harsh of environments, particularly for their mammalian inhabitants. Given that osmoregulation can be challenging for these animals, with failure resulting in death,
Eisen, Michael B, MacManes, Matthew D
core   +4 more sources

Structural biology of ferritin nanocages

open access: yesFEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Comment sont regardés les films sur la Grande Guerre patriotique dans la Russie actuelle ?

open access: yesJournal of Power Institutions in Post-Soviet Societies, 2011
The promoting of a patriotic cinema by the Russian state favored a new production, which appropriates in various ways this topos of the Soviet cinéma which is the patriotic Great War.
Myriam Désert
doaj  

Home - About - Disclaimer - Privacy