Results 51 to 60 of about 4,653 (175)
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome
Neural Plasticity, 2016 The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media.
Jiaofeng Chen +5 more
doaj +1 more source
Frontiers in Immunology, 2022 Congenital athymia can present with severe T cell lymphopenia (TCL) in the newborn period, which can be detected by decreased T cell receptor excision circles (TRECs) on newborn screening (NBS). The most common thymic stromal defect causing selective TCL
Maria Chitty-Lopez +13 more
doaj +1 more source
Innovations in Obesity Treatment: Beyond Adipose Tissue Dysfunction
Obesity Reviews, EarlyView.Obesity drives chronic inflammation, insulin resistance, type 2 diabetes, and cancer development through adipocyte dysfunction. Addressing this multisystemic disorder requires integrated strategies beyond diet and exercise, such as thermogenesis activation via menthol or capsinoids and appetite control through GLP‐1/GIP agonists and neuromodulation to ...
Jesica Martínez‐Godfrey +7 more
wiley +1 more source
Tbx1 Regulates Proliferation and Differentiation of Multipotent Heart Progenitors [PDF]
Circulation Research, 2009 Rationale : TBX1 encodes a T-box transcription factor implicated in DiGeorge syndrome, which affects the development of many organs, including the heart.
Chen L, Fulcoli FG, Tang S, Baldini A
openaire +5 more sources
The Journal of Physiology, EarlyView.Abstract figure legend THC and extract administered to diet‐induced obese mice reduced body weight and fat storage. Extract, but not THC, improved glucose clearance by a mechanism that may include restoring adipoinsular function. Abstract Diet‐induced obesity (DIO) is associated with dysregulated adipoinsular axis and endocannabinoid system (eCBS ...
Bryant Avalos +7 more
wiley +1 more source
Supraclavicular brown adipocytes originate from Tbx1+ myoprogenitors.
PLoS Biology, 2023 Brown adipose tissue (BAT) dissipates energy as heat, contributing to temperature control, energy expenditure, and systemic homeostasis. In adult humans, BAT mainly exists in supraclavicular areas and its prevalence is associated with cardiometabolic ...
Zan Huang +8 more
doaj +1 more source
Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes +2 more
wiley +1 more source
Tbx2a is required for specification of endodermal pouches during development of the pharyngeal arches. [PDF]
PLoS ONE, 2013 Tbx2 is a member of the T-box family of transcription factors essential for embryo- and organogenesis. A deficiency in the zebrafish paralogue tbx2a causes abnormalities of the pharyngeal arches in a p53-independent manner.
Hang Nguyen Thi Thu +4 more
doaj +1 more source
A Myocyte‐Enriched Long Non‐Coding RNA NRMLncR Enhances Myogenesis in Mouse
The FASEB Journal, Volume 40, Issue 13, 15 July 2026.We identified a novel myocyte‐enriched, Notch‐repressed myogenic lncRNA, NRMLncR, that is induced by myogenic regulatory factors (MRFs) during myogenic progression in mouse. NRMLncR localizes to cytoplasmic and nuclear compartments, associates with the RNA‐binding protein CUGBP Elav‐like family member 1 (CELF1), and is linked to neighboring gene Tbx1 ...
Yufen Li +12 more
wiley +1 more source