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EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Am J Med Genet A
June 2024
Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Article Synopsis
- The study describes a hereditary connective tissue disorder characterized by features like hyperextensible skin, joint laxity, and specific craniofacial characteristics linked to mutations in the EFEMP1 gene.
- Genome sequencing revealed that both the proband and her mother carried a specific stop-gain mutation, leading to significantly reduced levels of the EFEMP1 transcript in their fibroblasts.
- The findings highlight the role of EFEMP1 haploinsufficiency due to nonsense-mediated decay in causing severe symptoms, marking the first report of an autosomal dominant disorder associated with this gene and expanding the understanding of related conditions.
[Scientific integrity faces plagiarism fabricated with the ChatGPT].
Rev Med Inst Mex Seguro Soc
November 2023
Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Departamento de Biología Molecular y Genómica. Guadalajara, Jalisco, México.
Among the malpractices that undermine research integrity, plagiarism is a major threat given its frequency and evolving presentations. Plagiarism implies the intentional grabbing of texts, ideas, images, or data belonging to others and without crediting them. However, the different and even masked forms of plagiarism often difficult a clear identification.
View Article and Find Full Text PDFPopulism in Peru: Populist attitudes and perception of the populist offer and its relationship with political cynicism and attitudes toward democracy.
Front Psychol
December 2022
Facultad de Comunicación, Universidad de Lima, Lima, Peru.
Populism is a phenomenon that is gaining attention in Political Psychology. The goal of the current study was to determine the relationship between populist attitudes, based on the populist demand and the perception of the populist offer, and several indices of political cynicism and attitudes toward democracy in Peru. To do this, a quantitative correlational study including 391 participants from diverse Peruvian locations was carried out.
View Article and Find Full Text PDFLigament Laxity in Nonerosive Immune-Mediated Polyarthritis in Dogs: Five Cases (2009-2017).
J Am Anim Hosp Assoc
January 2020
From Langford Vets, University of Bristol, Bristol, United Kingdom (V.L.B., F.W.); Paragon Veterinary Referrals, Wakefield, United Kingdom (S.A.); Davies Veterinary Specialists, Hitchin, United Kingdom (P.F.); and The Queen's Veterinary School Hospital, University of Cambridge, Cambridge, United Kingdom (R.W.).
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
J Med Genet
April 2019
Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.
Introduction: Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype-genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train digital recognition facial analysis tools and to identify early severity predictors.
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