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http://dx.doi.org/10.1016/j.jid.2016.04.024 | DOI Listing |
Plants (Basel)
April 2025
Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Midori, Nishitokyo, Tokyo 188-0002, Japan.
The double-flower trait is highly valued in ornamental plants due to its unique aesthetic appeal, yet its genetic basis varies significantly across different species. While () and ()-like genes have been demonstrated to play crucial roles in floral organ identity regulation in the model plant , the underlying mechanisms governing double-flower formation in many ornamental species remain largely unexplored. In this study, we examined the inheritance pattern of this trait and identified a genetic variant associated with petal number variation.
View Article and Find Full Text PDFBr J Dermatol
August 2025
Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.
Background: Dual specificity phosphatase 1 (DUSP1) has recently been shown to regulate keratinocyte (KC) proliferation through extracellular regulated kinase (ERK) signalling.
Objectives: To delineate the genetic basis underlying inherited palmoplantar keratoderma (PPK) in two families.
Methods: We used whole-exome and direct sequencing, quantitative real-time polymerase chain reaction, protein modelling, immunofluorescence confocal microscopy, immunoblotting, three-dimensional skin equivalents and the dispase-based KC dissociation assay.
Genet Med
June 2025
Department of Medical Genetics, Reference Medical Biology Laboratory for Insulin Resistance and Lipodystrophy, Pitié-Salpêtrière Hospital, Assistance-Publique Hôpitaux de Paris (AP-HP), Paris, France; Department of Molecular Biology and Genetics, Saint-Antoine Hospital, AP-HP, Paris, France; Ins
Purpose: INSR encodes the insulin receptor, the essential entrainer of growth and metabolism to nutritional cues. INSR variants cause a spectrum of monogenic insulin resistance (IR) syndromes, namely, type A insulin resistance, Rabson-Mendenhall, and Donohue syndromes. However, to our knowledge, no large cohort studies focused on variant classification and its diagnostic value have been described.
View Article and Find Full Text PDFJ Am Coll Cardiol
February 2025
Genomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia. Electronic address:
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity.
Objectives: The authors report work by the Clinical Genome Resource Hereditary Cardiovascular Disease (HCVD) Gene Curation Expert Panel (GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.