Results 51 to 60 of about 5,428 (208)

Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection

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, Carla Duff, Gretchen Vaughn, Jessica Trotter, Hector Monforte, Hector Monforte, David Lindsay, David Lindsay, Elie Haddad, Elie Haddad, Michael D. Keller, Benjamin R. Oshrine, Jennifer W. Leiding, Jennifer W. Leiding   +13 more
doaj   +1 more source

Tumor‐Derived Exosomal piR‐hsa‐28212 Promotes Lymphatic Metastasis in Breast Cancer

Cancer Science, EarlyView.
Breast cancer–derived exosomal piR‐hsa‐28212 promotes lymphangiogenesis and lymph node metastasis by activating VEGFC/VEGFR3 signaling. It stabilizes TBX1 mRNA in lymphatic endothelial cells and METTL3 protein in tumor cells, enhancing VEGFR3 expression and VEGFC secretion.
Yafen Wang, Tianli Zhang, Xue Kong, Yao Tong, Yanru Li, Xiangjun Dong, Chuanxin Wang, Juan Li   +7 more
wiley   +1 more source

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia

, 2015
T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates.
Funato, Noriko, Nakamura, Masataka, Richardson, James A, Yanagisawa, Hiromi, Srivastava, Deepak   +4 more
core   +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, Xue Zhang, Jie Li, Chenmeng Song, Yichang Jia, Wei Xiong   +5 more
doaj   +1 more source

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, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors [PDF]

, 2009
TBX1 is a principal candidate gene for DiGeorge syndrome, a developmental anomaly that affects the heart, thymus, parathyroid, face, and teeth. A mouse model carrying a deletion in a functional region of the Tbx1 gene has been extensively used to study ...
Bradman, M, Luder, H U, Bradman, Matthew, Bluteau, Gilles, Tucker, A S, Tucker, Abigail S., Zoupa, M, Bluteau, G, Catón, J, Catón, Javier, Zoupa, Maria, Mitsiadis, Thimios A., Tucker, Abigail S.; id_orcid, Luder, Hans-Ulrich, Klein, Ophir, Klein, O, Mitsiadis, T A   +16 more
core   +1 more source

Ash2l interacts with Tbx1 and is required during early embryogenesis [PDF]

Experimental Biology and Medicine, 2010
TBX1 encodes a DNA binding transcription factor that is commonly deleted in human DiGeorge syndrome and plays an important role in heart development. Mechanisms of Tbx1 function, such as Tbx1 interacting regulatory proteins and transcriptional target specificity, are largely unknown.
Jason Z, Stoller, Li, Huang, Cheryl C, Tan, Facan, Huang, Diane D, Zhou, Jifu, Yang, Bruce D, Gelb, Jonathan A, Epstein   +7 more
openaire   +2 more sources

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, Irene Pomares‐Bri, Paula de Juan‐Maciá, Mariló Olivares‐Vicente, Enrique Barrajón‐Catalán, Vicente Micol, Enrique Roche, María Herranz‐López   +7 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, Steven Fong Haw Tien, Siau Lin Loh, Jimmy So Bok Yan, Vladimir Korzh   +4 more
doaj   +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, Chenxin Gu, Zengdi Zhang, Rini Arianti, Aneesh Swaminathan, Kevin Tran, Alex Battist, Endre Kristóf, Hai-Bin Ruan   +8 more
doaj   +1 more source