Results 41 to 50 of about 4,620 (132)

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

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 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

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

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

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  

An Outflow Tract Myocardium‐Specific Enhancer at the Sema3c Locus During Heart Development

Genes to Cells, Volume 31, Issue 4, July 2026.
Focusing on an OFT‐specific differentially accessible region, in the present study, we defined a distal OFT myocardial enhancer whose activity depends on GATA binding sites. This enhancer provides insight into the mechanisms underlying spatially restricted Sema3c expression involved in OFT development.
Yunce Wang, Yukihiro Harada, Tomoe Ueyama, Daiki Seya, Osamu Nakagawa, Teruhisa Kawamura   +5 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
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A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat

Advanced Science, Volume 13, Issue 31, 4 June 2026.
An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su, Haosen Yang, Xiaokai Li, Tingting Jiang, Siyuan Zhan, Tao Zhong, Jiazhong Guo, Yan Wang, Li Li, Hongping Zhang, Linjie Wang   +10 more
wiley   +1 more source