Results 61 to 70 of about 4,653 (175)

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome

Journal of Developmental Biology, 2022
The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS).
Noriko Funato
doaj   +1 more source

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, Volume 15, Issue 27, 17 July 2026.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +1 more source

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis [PDF]

Human Molecular Genetics, 2004
Formation and remodeling of the pharyngeal arches play central roles in craniofacial development. TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency ...
Robert G, Kelly, Loydie A, Jerome-Majewska, Virginia E, Papaioannou   +2 more
openaire   +2 more sources

Soybean‐Derived Exosome‐Like Nanovesicles Regulate Lipid Metabolism via Mitochondrial Biogenesis and UCP1/PGC‐1α Mediated Thermogenesis

Food Frontiers, Volume 7, Issue 4, July 2026.
Soybean‐derived exosome‐like nanovesicles suppress lipid accumulation of adipocytes via UCP1/PGC‐1α mediated thermogenesis pathway and boosting mitochondrial function. ABSTRACT Obesity has become an important public health concern in modern society. Plant‐derived exosome‐like nanovesicles are emerging as candidates for obesity intervention.
Zhenzhu Zhu, Luyuan Ni, Mingwei Gao, Qian Yang, Changli Zhang, Qin Liu   +5 more
wiley   +1 more source

Tbx1 regulates oral epithelial adhesion and palatal development [PDF]

Human Molecular Genetics, 2012
Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate.
Noriko, Funato, Masataka, Nakamura, James A, Richardson, Deepak, Srivastava, Hiromi, Yanagisawa   +4 more
openaire   +2 more sources

Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This work demonstrates how recognition of body region dysmorphology patterns improves prediction of genetic disorders causing congenital heart disease (CHD). Findings highlight possible abnormal developmental pathways underlying CHD types and craniofacial development.
Benjamin M. Helm, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware   +3 more
wiley   +1 more source

Early thyroid development requires a Tbx1–Fgf8 pathway

Developmental Biology, 2009
The thyroid develops within the pharyngeal apparatus from endodermally-derived cells. The many derivatives of the pharyngeal apparatus develop at similar times and sometimes from common cell types, explaining why many syndromic disorders express multiple birth defects affecting different structures that share a common pharyngeal origin. Thus, different
Lania G, Zhang Z, Huynh T, Caprio C, Moon AM, Vitelli F, Baldini A   +6 more
openaire   +4 more sources

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia [PDF]

Genes, 2016
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions.
Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng   +4 more
openaire   +2 more sources

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm [PDF]

Developmental Dynamics, 2006
AbstractThe T‐box transcription factor Tbx1 has been implicated in DiGeorge syndrome, the most frequent syndrome due to a chromosomal deletion. Gene inactivation of Tbx1 in mice results in craniofacial and branchial arch defects, including myogenic defects in the first and second branchial arches. A T‐box binding site has been identified in the Xenopus
A. Dastjerdi, L. Robson, R. Walker, J. Hadley, Z. Zhang, M. Rodriguez Niedenfuhr, P. Ataliotis, BALDINI, ANTONIO, P. Scambler, P. Francis West   +9 more
openaire   +4 more sources