Results 51 to 60 of about 214,100 (302)

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

Assessment of genetic diversity and relationships among Coix lacryma-jobi accessions using microsatellite markers

open access: yesBiologia Plantarum, 2010
The present study describes the assessment of genetic diversity and relationships among 79 Job's tears (Coix lacrymajobi L.) accessions collected from China and Korea using 17 microsatellite markers. A total of 57 alleles were detected with an average of
K. -H. Ma   +6 more
doaj   +1 more source

Inbreeding depression in red deer calves [PDF]

open access: yes, 2016
BACKGROUND Understanding the fitness consequences of inbreeding is of major importance for evolutionary and conservation biology. However, there are few studies using pedigree-based estimates of inbreeding or investigating the influence of environment ...
Clutton-Brock, Tim H   +5 more
core   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider   +4 more
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

open access: yesFEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Homozygosity and risk of childhood death due to invasive bacterial disease. [PDF]

open access: yes, 2009
BACKGROUND: Genetic heterozygosity is increasingly being shown to be a key predictor of fitness in natural populations, both through inbreeding depression, inbred individuals having low heterozygosity, and also through chance linkage between a marker and

core   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

open access: yesMolecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice   +16 more
wiley   +1 more source

Genetic variability in Oligosarcus paranensis (Teleostei: Characiformes) from the São Francisco river, Ivaí river basin – Paraná State, Brazil - doi: 10.4025/actascibiolsci.v35i3.14179

open access: yesActa Scientiarum: Biological Sciences, 2013
The genetic variability of Oligosarcus paranensis was estimated from a population collected in São Francisco river, Prudentópolis county in Paraná State (Brazil) using the electrophoresis in starch gel technique.
Michele Rocha dos Santos, Erasmo Renesto
doaj   +1 more source

First Insights into the Population Genetic Structure and Heterozygosity–Fitness Relationship in Roe Deer Inhabiting the Area between the Alps and Dinaric Mountains

open access: yesAnimals, 2020
Across its pan-European distribution, the European roe deer (Capreolus capreolus) faces a wide diversity of environmental and climatic conditions; therefore, several factors, including intrinsic ones, shape life-history traits and cause significant ...
Elena Buzan   +4 more
doaj   +1 more source

Origin of 2N gametes in C. reticulata cv fortune mandarin [PDF]

open access: yes, 2009
Citrus are most important fruit crop worldwide. Seed1essness is a key characteristic for the fresh fruit market and the development of triploid hybrids is one strategy developed by several groups over the world.
Cuenca, José   +2 more
core  

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