10 research outputs found
Innovaciones tecnológicas en el manejo integrado del cuero de sapo de la yuca (Manohot esculenta Crantz): Estrategias para reducir el impacto de la enfermedad por efectos del cambio climático en Colombia, Costa Rica y Paraguay
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/− mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1+/− mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development and borderline to moderate intellectual disability. Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1+/− mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. In Cux1+/− brains, the expression of Cux1 transcripts was half of WT animals. Expression of CUX1 proteins was reduced, although in early postnatal animals significantly more than in adults. In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. The post-transcriptional balance of CUX1 expression in the heterozygous brain at late developmental stages appears important for this favorable clinical course.CAG was supported by the Eunice Kennedy Shriver National Institute Of Child Health & Human Development of the National Institutes of Health under Award Number P50 HD103525. This work was funded by PID2020-112831GB-I00 AEI /10.13039/501100011033 (MN). SS was supported by a grant from the NIH/NINDS (K23NS119666). SWS is supported by the Hospital for Sick Children Foundation, Autism Speaks, and the University of Toronto McLaughlin Center. EM-G was supported by a grant from MICIU FPU18/06240. EVS. was supported by a grant from the NIH (EY025718). CRF was supported by the fund to support clinical research careers in the Region of Southern Denmark (Region Syddanmarks pulje for kliniske forskerkarriereforløb).Peer reviewe
Manejo del 'Cuero de sapo' enfermedad limitante de la yuca
La yuca es uno de los cultivos más importantes para el pequeño productor agrícola de Colombia. Según los datos de dos entidades colombianas —el Ministerio de Agricultura y Desarrollo Rural (MADR) y la Fundación para la Investigación y Desarrollo Agrícola (Fidar)— y de la Organización de las Naciones Unidas para la Alimentación y la Agricultura (FAO), en Colombia se siembran aproximadamente 223.000 ha con yuca, de las cuales se obtiene una producción anual de 2.265.000 t, con un rendimiento promedio de 10.1 t/ha (FAOSTAT, 2013). El cultivo está afectado actualmente por una enfermedad que limita seriamente su producción y que se conoce (por su efecto en las raíces) como ‘cuero de sapo’ (CS, en adelante). El CS se reportó por primera vez en Colombia en 1971 (en el departamento del Cauca, una zona productora de yuca) y también fue reportado en las décadas siguientes en Brasil (Oliveira et al., 2014), Costa Rica (Pardo et al., 2014), Panamá, Perú y Venezuela (Calvert, 1994; Chaparro-Martínez y Trujillo-Pinto, 2001; Pineda et al., 1983) y Paraguay (Álvarez et al., 2014; Pardo et al., 2014). Estudios recientes confirman la asociación de un fitoplasma (bacteria Gram negativa sin pared celular y confinada al floema) con el CS (Álvarez et al., 2009). Actualmente, la enfermedad está presente en las principales zonas productoras de yuca de Colombia (Córdoba, Sucre, Cauca, Valle del Cauca, Tolima y Meta) y causa pérdidas hasta del 100% de la producción, porque afecta directamente la acumulación de almidón y la calidad de las raíces y, por ende, el rendimiento del cultivo (Calvert, 1994; Pineda et al., 1983). Generalmente, los síntomas de esta enfermedad solo se observan cuando se cosechan las raíces
Compendio de resultados de investigación. Proyecto IPTA - CONACYT 14 - INV - 447: Validación y difusión de prácticas agronómicas sustentables para el mejoramiento de la tecnología de producción de frutilla en la zona frutillera de la cuenca del lago Ypacaraí
El Proyecto tiene como propósito mejorar la productividad del cultivo de la frutilla a través de la adaptación de prácticas agronómicas sustentables en finca de productores de la zona frutillera mediante la generación de un paquete tecnológico adaptado a su realidad de producción.CONACYT – Consejo Nacional de Ciencia y TecnologíaPROCIENCI
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.
We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations.
Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (p.Leu1408Val), neutral effect (p.Leu614Arg), and gain of function (p.Leu657Phe, p.Leu614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism.
We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome
Servant Leadership and Goal Attainment Through Meaningful Life and Vitality: A Diary Study
Despite the emphasis of servant leadership theory on the attention provided to workers’ needs and goals, there is a lack of empirical knowledge on the relationship between servant leadership and employees’ goal attainment. We provide a theoretical model of the mechanism by which this strong focus of servant leadership on a worker’s individual development positively influences the worker’s goal attainment. Through a diary study with 126 workers over five consecutive working days, the results indicated a positive within-person indirect effect of servant leader behaviors on goal attainment a day later through two parallel paths: the meaning in life at night and vitality the next morning. These results provide the first empirical support for the assumption of servant leadership as a promoter of employees’ goals, and highlights how servant leadership positively influences the integration of work as part of life and the energy resources of workers to achieve their daily goals
Ecological Drivers of and Responses by Arctic Benthic Communities, with an Emphasis on Kongsfjorden, Svalbard
Knowledge on the causes and consequences that structure benthic communities is essential to understand and conserve Arctic ecosystems. This review aims to summarize the current knowledge on the effects of abiotic and biotic factors on species interactions and community traits, i.e. diversity, structure, and functioning of Arctic coastal hard- and soft-bottom habitats, with emphasis on Kongsfjorden (Svalbard). Current evidence indicates that descriptive and mensurative studies on the distribution of species prevail and few studies allow inferences on the underlying processes generating observed patterns. Furthermore, Arctic hard- and soft-bottom communities show some fundamental differences in their ecology. The recovery in hard-bottom communities from disturbance, for instance, takes exceptionally long (i.e. > decadal) due to slow growth and/or sporadic recruitment, while it is considerably shorter in soft-bottom communities. Also, Arctic hard-bottom
communities display strong competitive hierarchies that appear negligible in communities populating sedimentary shores. This review concludes with a suggestion to shift the focus in Arctic benthos research from pattern to processes and the identification of major research gaps. These include (i) the apparent demarcation of studies being devoted to either rocky or to sedimentary shores, which hamper studies on habitat connectivity, (ii) the lack of studies addressing the effects of pathogens and diseases on community ecology, and (iii) the incomplete assessment of potentially significant drivers of community ecology, such as trophic interactions, recruitment success, and competition
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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
International audiencePurpose:CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.Methods:We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations.Results:Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (p.Leu1408Val), neutral effect (p.Leu614Arg), and gain of function (p.Leu657Phe, p.Leu614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism.Conclusion:We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome