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Solitary verrucous plaque on the chin: hypertrophic discoid lupus erythematosus.
An Bras Dermatol
January 2025
Department of Pathology, Faculty of Medical Sciences, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Chapter 7: CLINICAL FORMS AT DIFFERENT AGES OF LIFE: CHILDHOOD, PREGNANCY, LACTATION, OLD AGE.
Ann Endocrinol (Paris)
January 2025
Université Paris-Saclay, Inserm, Endocrine Physiology and Physiopathology, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Rares de l'Hypophyse HYPO, F-94270 Le Kremlin-Bicêtre, France. Electronic address:
Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia.
View Article and Find Full Text PDFNOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study.
Immunobiology
January 2025
Department of Internal Medicine / Allergy and Clinical Immunology, Faculty of Medicine, Ain Shams University, Cairo, Egypt. Electronic address:
Background: Chronic spontaneous urticaria (CSU) is a persistent skin condition with no known cause or trigger. The unpredictability of CSU attacks lowers patients' quality of life. NOD-like receptor pyrin domain containing 3 (NLRP3) gene dysregulation can result in numerous immunological and inflammatory diseases.
View Article and Find Full Text PDFProtocol for mitochondrial variant enrichment from single-cell RNA sequencing using MAESTER.
STAR Protoc
January 2025
Division of Hematology, Brigham and Women's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA, USA; Ludwig Center at Harvard, Harvard Medical School, Boston, MA, USA. Electronic address:
Single-cell RNA sequencing (scRNA-seq) enables detailed characterization of cell states but often lacks insights into tissue clonal structures. Here, we present a protocol to probe cell states and clonal information simultaneously by enriching mitochondrial DNA (mtDNA) variants from 3'-barcoded full-length cDNA. We describe steps for input library preparation, mtDNA enrichment, PCR product cleanup, and paired-end sequencing.
View Article and Find Full Text PDFOral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
Spec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
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