Results 261 to 270 of about 257,105 (351)

Association between metal cobalt exposure and the risk of congenital heart defect occurrence in offspring: a multi-hospital case-control study. [PDF]

Environ Health Prev Med, 2020
Zhang N, Yang S, Yang J, Deng Y, Li S, Li N, Chen X, Yu P, Liu Z, Zhu J.   +9 more
europepmc   +1 more source

Introduction to “Laboring from ex‐centric Sites: Disability, Chronicity, and Work”

Anthropology of Work Review, EarlyView.
ABSTRACT The transition to industrial regimes has produced new categories of people deemed “unfit” for labor. Even if these boundaries are more porous nowadays, contributions to this Special Issue reveal continuities in how people struggle for a place in domains of work that are ill‐shaped to accommodate their diverse bodyminds.
Giorgio Brocco, Stefanie Mauksch
wiley   +1 more source

The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down's Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data. [PDF]

Clin Epidemiol, 2020
Cho WK, Lee NY, Han K, Suh BK, Park YG.
europepmc   +1 more source

Opioid receptors in cardiovascular function

British Journal of Pharmacology, EarlyView.
Opioid receptors are G protein‐coupled receptors expressed by various cells in the heart, including myocytes and nerve fibres, and play a crucial role in modulating cardiac function. These receptors influence neural transmission, heart rate and myocyte contractility, offering cardioprotection.
Venkatesh Katari, Kesha K. Dalal, Narendra Kondapalli, Sailaja Paruchuri, Charles K. Thodeti   +4 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

Clinical Genetics, EarlyView.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius   +16 more
wiley   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Incidental finding of pulmonary artery aneurysm revealing a congenital heart defect. [PDF]

BMJ Case Rep, 2019
Dougherty KAD, Elkaissi M, Sabbour H, Farha S.   +3 more
europepmc   +1 more source

Organoid Models to Study Human Infectious Diseases

Cell Proliferation, EarlyView.
Our manuscript reviews the role of organoids as models for studying human infectious diseases, highlighting their irreplaceable contributions to drug testing and vaccine development for significant infectious diseases including HIV, ZIKV, SARS‐CoV‐2 and MPXV.
Sijing Zhu, Dan Chen, Xinzhi Yang, Liuliu Yang, Yuling Han   +4 more
wiley   +1 more source