Results 171 to 180 of about 42,857 (292)

Mosaic attenuation [PDF]

Jornal Brasileiro de Pneumologia, 2019
Edson Marchiori, Bruno Hochhegger, Gláucia Zanetti   +2 more
openaire   +3 more sources

Technology Transfer to Underwater Archaeology: The LAHKE Project at the Submerged Neolithic Site of La Marmotta

Archaeological Prospection, EarlyView.
ABSTRACT This document is a report on the field application of non‐invasive geophysical and robotic prospecting methods at the submerged Neolithic site of La Marmotta (Lake Bracciano, Italy), within the LAHKE (LAke Heritage Knowledge and Exploration) project; the study focuses on the practical validation, adaptation and transfer of existing ...
dell' Erba Ramiro, Cupertino Giacomo, Cipollini Angelo, Luciano Blasi, Quattrucci Luca   +4 more
wiley   +1 more source

Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study. [PDF]

In Vivo
Kouvidi E, Grigoriadou M, Leiletzoglou E, Kolialexi A.   +3 more
europepmc   +1 more source

Dnmt3a Mutations Limit Normal and Autoreactive CD4+ T Follicular Helper Responses and Attenuate T Cell–Driven Joint Inflammation

Arthritis &Rheumatology, EarlyView.
Objective Somatic DNMT3A mutations are the most common drivers of clonal hematopoiesis in patients with rheumatoid arthritis (RA) and have been associated with seropositive disease and increased markers of inflammation. These mutations are predominantly hypomorphic or dominant‐negative, reducing DNMT3A function.
Yunbing Shen, Sanjaykumar Boddul, Zhaojun Li, Zsolt Kasza, Marlene Schülein, Bruno Raposo, Karine Chemin, Per‐Johan Jakobsson, Alexander Espinosa, Lars Klareskog, Fredrik Wermeling   +10 more
wiley   +1 more source

The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study. [PDF]

Fam Cancer
Ritter E, Shtaya AA, Kariv R, Lieberman S, Half E, Postnikov M, Rosner G, Strul H, Gluck N, Katz L, Levy-Lahad E, May D, Laish I, Goldberg Y, Vainer E, Levi Z, Golan MA.   +16 more
europepmc   +1 more source

Dual Effects of β‐TrCP2 Deletion in Bone Homeostasis: Suppression of Osteoclastogenesis and Enhancement of Osteoblast Activity

Arthritis &Rheumatology, Accepted Article.
Objectives To elucidate role of beta‐transducin repeat‐containing protein 2 (β‐TrCP2) in bone homeostasis for its potential as a therapeutic target for osteoporosis. Methods The role of β‐TrCP2 in bone phenotypes was investigated using systemic β‐TrCP1KO and β‐TrCP2KO mice, along with myeloid‐specific conditional β‐TrCP2KO (β‐TrCP2ΔM) mice.
Woo Jung Kim, Sora Han, Hye In Ka, Sun Young Lee, Jiwon Kim, Hyunjeong Joo, Sujung Soh, Gaeun Oh, Kyung Hyun Yoo, Seung Hyun Han, Yeongkag Kwon, Choogon Lee, Kyung‐Hyun Park‐Min, Se Hwan Mun, Young Yang   +14 more
wiley   +1 more source

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome. [PDF]

Front Genet
Barragán-Muñoz A, Trilla P, Sanchez A, Potrony M, Madrigal I, Rodriguez-Revenga L, Alvarez-Mora MI.   +6 more
europepmc   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Reception Baseline Assessment and ‘small acts’ of micro‐resistance

British Educational Research Journal, EarlyView.
Abstract In September 2021, following the global COVID‐19 pandemic, the Department for Education introduced a national standardised digital Reception Baseline Assessment (RBA) for all English 4‐year‐old children. We analyse RBA and its associated Quality Monitoring Visits, as a further intensification of the new public management of early years ...
Guy Roberts‐Holmes, Diana Sousa, Siew Fung Lee   +2 more
wiley   +1 more source

Beyond genital phenotype - Commentary on "Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong&quot. [PDF]

Ann Pediatr Endocrinol Metab
Jung SY.
europepmc   +1 more source