Results 61 to 70 of about 4,765 (175)

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, Yumei Zhou, Qing Ying Li, Justine Arrington, Zhengzheng Hu, Mostafa F. Abdelhai, Yubo Wang, Junxiao Ren, Yung‐Yu Cheng, Mingyi Xie, W. Andy Tao, Shihuan Kuang, Feng Yue   +12 more
wiley   +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

Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder

Pharmacogenomics and Personalized Medicine, 2022
Safiah Alhazmi,1 Maryam Alzahrani,1 Reem Farsi,1 Mona Alharbi,1 Khloud Algothmi,1 Najla Alburae,1 Magdah Ganash,1 Sheren Azhari,1 Fatemah Basingab,1 Asma Almuhammadi,1 Amany Alqosaibi,2 Heba Alkhatabi,3,4 Aisha Elaimi,3,4 Mohammed Jan,5 Hesham M ...
Alhazmi S, Alzahrani M, Farsi R, Alharbi M, Algothmi K, Alburae N, Ganash M, Azhari S, Basingab F, Almuhammadi A, Alqosaibi A, Alkhatabi H, Elaimi A, Jan M, Aldhalaan HM, Alrafiah A, Alrofaidi A   +16 more
doaj  

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

PLoS ONE, 2014
BackgroundAlthough TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the ...
Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara   +11 more
doaj   +1 more source

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

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

Developmental Biology, 2006
Fgf8 and Tbx1 have been shown to interact in patterning the aortic arch, and both genes are required in formation and growth of the outflow tract of the heart. However, the nature of the interaction of the two genes is unclear. We have utilized a novel Tbx1(Fgf8) allele which drives Fgf8 expression in Tbx1-positive cells and an inducible Cre-LoxP ...
VITELLI F, ZHANG Z, HUYNH T, SOBOTKA A, MUPO A, BALDINI, ANTONIO   +5 more
openaire   +3 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

Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle

Biology Open, 2017
The domain within the otic vesicle (OV) known as the neurosensory domain (NSD), contains cells that will give rise to the hair and support cells of the otic sensory organs, as well as the neurons that form the cochleovestibular ganglion (CVG).
Stephania Macchiarulo, Bernice E. Morrow
doaj   +1 more source

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 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.

PLoS Genetics, 2019
We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous
Erica Hasten, Bernice E Morrow
doaj   +1 more source