Results 61 to 70 of about 5,584 (206)

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

npj Genomic Medicine, 2023
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification ...
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow   +52 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

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

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

Δ9 Tetrahydrocannabinol and cannabis extracts differentially improve adipoinsular dysfunction in diet‐induced obesity

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, Martin Olmos, Courtney P. Wood, Camila Alvarez, Haley M. Read, Parima Udompholkul, Theodore Garland Jr, Nicholas V. DiPatrizio   +7 more
wiley   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Fuchs, JC, Baldini, A, Linden, JF, Tucker, AS   +3 more
core  

Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency [PDF]

, 2012
Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are ...
Mesmaeker, Julie Anne Laurence Nathalie De, De Mesmaeker, Julie Anne Laurence Nathalie   +1 more
core   +1 more source

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

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