Results 91 to 100 of about 5,757 (204)

Deciphering the Presence of Active Interscapular Brown Adipose Tissue in Humans

Acta Physiologica, Volume 242, Issue 4, April 2026.
ABSTRACT Brown adipose tissue (BAT) is increasingly recognized as a metabolically active tissue in humans, although its physiological relevance remains incompletely understood. In rodents, BAT is well characterized, with interscapular BAT (iBAT) representing the main thermogenic depot.
Joaquin Sanchez‐Gomez, Samuel Ruiz‐Campos, Anabel Chica‐Perez, Andrés Baena‐Raya, Francisco M. Acosta, Christian Wolfrum, Patrick C. N. Rensen, Tania Romacho, Borja Martinez‐Tellez   +8 more
wiley   +1 more source

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells [PDF]

, 2007
The T-box transcription factor Tbx1 is required for inner ear morphogenesis. Tbx1 null mutants have a small otocyst that fails to grow and remodel and does not give rise to the vestibular and cochlear apparata.
Viola A, ILLINGWORTH, ELISABETH ANNE, Viola, Antonella, Lindsay-Illingworth, Elizabeth A., Gerken C, Zhang, Zhen, Z. Zhang, Xu, Huansheng, Xu H, A. Viola, BALDINI, ANTONIO, Zhang Z, Baldini A., E. A. Lindsay Illingworth, Gerken, Claudia P., C. P. Gerken, H. S. Xu   +16 more
core   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

Clinical Diabetes and Endocrinology, 2019
Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart ...
Raad A. Haddad, Gregory A. Clines, Jennifer A. Wyckoff   +2 more
doaj   +1 more source

The TBX1 Transcription Factor in Cardiac Remodeling After Myocardial Infarction [PDF]

, 2016
Introduction and objectives: The transcription factor TBX1 plays an important role in the embryonic development of the heart. Nothing is known about its involvement in myocardial remodeling after acute myocardial infarction (AMI) and whether its ...
Fernandez del Palacio, Maria J, Pascual Figal, Domingo A., Navarro-Peñalver, Marina, Lax Pérez, Antonio Manuel, Asensio Lopez, Maria del Carmen, Perez Martinez, Maria T, Caballero, Luis, Gimeno Blanes, Juan R, Sanchez Mas, Jesus   +8 more
core   +1 more source

Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12

Life Science Alliance
The study shows that mice that are a model of 22q11.2 deletion syndrome have abnormal brain metabolism, and it identifies potential biomarkers of metabolic brain disease in 22q11.2DS patients.
Marianna Caterino, Debora Paris, Giulia Torromino, Michele Costanzo, Gemma Flore, Annabella Tramice, Elisabetta Golini, Silvia Mandillo, Diletta Cavezza, Claudia Angelini, Margherita Ruoppolo, Andrea Motta, Elvira De Leonibus, Antonio Baldini, Elizabeth Illingworth, Gabriella Lania   +15 more
doaj   +1 more source

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function

BMC Genomics, 2018
Background Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate.
Maria Zoupa, Guilherme Machado Xavier, Stephanie Bryan, Ioannis Theologidis, Matthew Arno, Martyn T. Cobourne   +5 more
doaj   +1 more source

A regulatory relationship between Tbx1 and FGF signaling during tooth morphogenesis and ameloblast lineage determination [PDF]

, 2008
The Tbx1 gene is a transcriptional regulator involved in the DiGeorge syndrome, which affects normal facial and tooth development. Several clinical reports point to a common enamel defect in the teeth of patients with DiGeorge syndrome.
Rice, David P.C., Tucker, A S, Rice, D P C, De Bari, C, Cobourne, M T, Rice, David P. C., De Bari, Cosimo, Tucker, Abigail S., Cobourne, Martyn T., Cobourne, Martyn T.; id_orcid, Mitsiadis, Thimios A., Tucker, Abigail S.; id_orcid, Mitsiadis, T A   +12 more
core   +1 more source

Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors

, 2017
Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in ...
Filomena Cetani, Valentina Vaira, Leonardo Vicentini, V. Guarnieri, L. Vicentini, Sabrina Corbetta, G. Bulfamante, V. Vaira, Vito Guarnieri, Stefano Ferrero, F. Cetani, P. Creo, E. Beretta, C. Verdelli, S. Ferrero, Laura Avagliano, S. Corbetta, Chiara Verdelli, A. Scillitani, Pasquale Creo, L. Avagliano, Edoardo Beretta, Gaetano Pietro Bulfamante, Alfredo Scillitani   +23 more
core   +1 more source

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

The Turkish Journal of Pediatrics, 2007
Fallot tetralogy (FT) is the most frequently observed conotruncal heart defect (CTHD) and accompanies 15% of the 22q11 deletion syndromes, DiGeorge/ velocardiofacial (DGS/VCFS) syndromes.
Feryal Cabuk, Halil G Karabulut, Timur Tuncali, Selmin Karademir, Mithat Bozdayi, Ajlan Tükün   +5 more
doaj