Results 101 to 110 of about 3,740,880 (323)
Frontiers in Cellular and Infection MicrobiologyChagas’ is a neglected disease caused by the eukaryotic kinetoplastid parasite, Trypanosoma cruzi. Currently, approximately 8 million people are infected worldwide, most of whom are in the chronic phase of the disease, which involves cardiac, digestive ...
Yamil E. Masip +11 more
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Mechanism of Fruit Ripening - Chapter 16 [PDF]
, 2010 The fruit ripening process has been viewed over the last decades as being successively of physiological, biochemical, and molecular nature. Fruit ripening is accompanied by a number of biochemical events, including changes in color, sugar, acidity ...
Bouzayen, Mondher +3 more
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Cancer Science, EarlyView.The period for reclassifying the variants' pathogenicity is too long for patients with advanced or recurrent cancers with variants of uncertain significance that can be objectively re‐evaluated to be (likely) pathogenic according to accumulated evidence.
Tomomi Hayashi +2 more
wiley +1 more source
Epilepsy in Multigene Tubulin Family Mutations [PDF]
Journal of Neurology & Neurophysiology, 2015 Mutations in α- and β-tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation, and axon guidance and maintenance. Motor and language developmental disorders, cognitive impairment and epilepsy are the main clinical associated symptoms.
Romaniello, Romina, Borgatti, Renato
openaire +2 more sources
Characterization and gene expression analysis of the cir multi-gene family of plasmodium chabaudi chabaudi (AS) [PDF]
, 2012 Background: The pir genes comprise the largest multi-gene family in Plasmodium, with members found in P. vivax, P. knowlesi and the rodent malaria species.
Berriman, Matthew +11 more
core +3 more sources
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome
Clinical Genetics, EarlyView.Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia +16 more
wiley +1 more source
A New Multigene Family of Putative Pheromone Receptors [PDF]
Neuron, 1997 The vomeronasal organ (VNO) mediates detection of pheromones related to social and reproductive behavior in most terrestrial vertebrates. We have identified a new multigene family of G protein-linked receptors (V2Rs) that are specifically expressed in the VNO.
N. J. Ryba, TIRINDELLI, Roberto
openaire +3 more sources
A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer
JAMA Oncology, 2019 Key Points Question Is unselected genetic testing of all women with breast cancer cost-effective compared with testing based on clinical criteria or family history?
Li Sun +21 more
semanticscholar +1 more source
Clinical Genetics, EarlyView.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source
Characterisation of a pucBA deletion mutant from Rhodopseudomonas palustris lacking all but the pucBAd genes [PDF]
, 2017 Rhodopseudomonas palustris is a species of purple photosynthetic bacteria that has a multigene family of puc genes that encode the alpha and beta apoproteins, which form the LH2 complexes.
Carey, Anne-Marie +8 more
core +1 more source