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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFEfficacy and Safety of Proactive Therapy with 2% Crisaborole Ointment in Children with Mild-to-Moderate Atopic Dermatitis: A Randomized Controlled Study.
Paediatr Drugs
January 2025
Department of Dermatology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The effectiveness of crisaborole for proactive treatment of atopic dermatitis (AD) is not well established.
Objectives: This study aims to investigate the efficacy and safety of a proactive treatment strategy with 2% crisaborole ointment for managing mild-to-moderate AD in children.
Patients And Methods: In this 16-week randomized-controlled trial, children aged 2-17 years with mild-to-moderate AD were enrolled.
An Efficient Method for Immortalizing Mouse Embryonic Fibroblasts by CRISPR-mediated Deletion of the Gene.
Bio Protoc
January 2025
Department of Cell Biology and Human Anatomy, University of California, Davis, School of Medicine, Davis, CA, USA.
Mouse embryonic fibroblasts (MEFs) derived from genetically modified mice are a valuable resource for studying gene function and regulation. The MEF system can also be combined with rescue studies to characterize the function of mutant genes/proteins, such as disease-causing variants. However, primary MEFs undergo senescence soon after isolation and passaging, making long-term genetic manipulations difficult.
View Article and Find Full Text PDFEmerging Trend of Central Precocious Puberty: A Retrospective Study of Cases Diagnosed Before and During the COVID-19 Pandemic in a Portuguese Tertiary-Level Hospital.
Cureus
December 2024
Pediatric Endocrinology Unit, Department of Pediatrics, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Centro Materno-Infantil do Norte Albino Aroso, Porto, PRT.
Introduction: In light of the recent evidence suggesting an increase in idiopathic central precocious puberty (ICPP) during the COVID-19 pandemic, this study aimed to assess the incidence of newly diagnosed ICPP cases and compare differences in demographic, anthropometric, and clinical characteristics pre-pandemic and during the pandemic.
Methods: We conducted a retrospective study at a national reference pediatric endocrinology unit in Portugal to evaluate the proportion of referrals for precocious puberty (PP) and, within this group, the number of ICPP cases diagnosed before (group 1: January 2018 to March 2020) and during the pandemic (group 2: April 2020 to June 2022). Additionally, we compared the demographic, anthropometric, and clinical characteristics of ICPP patients between the two groups.
A Qualitative Analysis of Unintentional Injuries in Autism Spectrum Disorder.
J Autism Dev Disord
January 2025
Department of Psychology, University of Alabama at Birmingham, AL, Birmingham, USA.
Purpose: Prior research demonstrates that children with autism are more likely to experience unintentional injuries than the general population. Limited research exists on the symptoms or traits directly related to autism and this elevated injury rate, especially from the perspective of families with children with autism. This study used qualitative methodology to elucidate risk factors that may contribute to unintentional injuries in children with autism from the perspective of mothers raising children with autism.
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