Results 91 to 100 of about 2,342,497 (308)

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

Research Progress on Sex Pheromone Receptors in Insects

open access: yesInsects
Insect sex pheromone receptors (PRs) are crucial for regulating mating and reproduction. In the insect olfactory perception pathway, the pheromone-binding protein (PBP) facilitates the efficient translocation of sex pheromones, enabling them to bind to ...
Henan Ju   +8 more
doaj   +1 more source

An evolutionary approach to the identification of Cellular Automata based on partial observations

open access: yes, 2015
In this paper we consider the identification problem of Cellular Automata (CAs). The problem is defined and solved in the context of partial observations with time gaps of unknown length, i.e. pre-recorded, partial configurations of the system at certain,
Baetens, Jan M.   +2 more
core   +1 more source

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension [PDF]

open access: yes, 2012
Pulmonary arterial hypertension (PAH) is an incurable disorder clinically characterised by a sustained elevation of mean arterial pressure in the absence of systemic involvement.
Machado, Rajiv
core   +2 more sources

New Armenian Wood-Associated Coprinoid Mushrooms: Coprinopsis strossmayeri and Coprinellus aff. radians

open access: yesDiversity, 2011
Coprinoid mushrooms grown on wood of broad-leaf species were collected for the first time in Armenia and dikaryotic mycelial cultures were established. ITS (internal transcribed spacer) sequences identified one species as Coprinopsis strossmayeri and the
Ursula Kües   +5 more
doaj   +1 more source

Genetic structure and evolution of the Leishmania genus in Africa and Eurasia: what does MLSA tell us [PDF]

open access: yes, 2013
Leishmaniasis is a complex parasitic disease from a taxonomic, clinical and epidemiological point of view. The role of genetic exchanges has been questioned for over twenty years and their recent experimental demonstration along with the identification ...
Berry, Vincent   +7 more
core   +4 more sources

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu   +8 more
wiley   +1 more source

Rapid Sequence Identification of Potential Pathogens Using Techniques from Sparse Linear Algebra

open access: yes, 2015
The decreasing costs and increasing speed and accuracy of DNA sample collection, preparation, and sequencing has rapidly produced an enormous volume of genetic data. However, fast and accurate analysis of the samples remains a bottleneck. Here we present
Chiu, Nelson   +4 more
core   +1 more source

The Potential Of High-Resolution BAC-FISH In Banana Breeding [PDF]

open access: yes, 2009
The genetic complexity in the genus Musa has been subject of study in many breeding programs worldwide. Parthenocarpy, female sterility, polyploidy in different cultivars and limited amount of genetic and genomic information make the production of new ...
Capdeville, G., De   +7 more
core   +2 more sources

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee   +9 more
wiley   +1 more source

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