Results 121 to 130 of about 34,364 (292)

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

npj Genomic Medicine
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in two unrelated families who presented prenatal-onset growth impairment, microcephaly, characteristic face, situs inversus, and ...
Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Toshio Ohshima, Naomichi Matsumoto, Noriko Miyake   +12 more
doaj   +1 more source

Roles of histone lysine methylation in neurodevelopment and related disorders

Ibrain, EarlyView.
This graphical abstract centers on the theme of dynamic balance and systematically outlines the role of histone lysine methylation in neurodevelopment and related disorders. The figure first presents two key classes of regulators that control this balance—“writers” and “erasers”—and then indicates how interactions among different epigenetic ...
Yun Chen, Yi Zhang, Hong Zhang, Xiaoli Liang   +3 more
wiley   +1 more source

Pak1ip1 Loss-of-Function Leads to Cell Cycle Arrest, Loss of Neural Crest Cells, and Craniofacial Abnormalities. [PDF]

Front Cell Dev Biol, 2020
Panoutsopoulos AA, De Crescenzo AH, Lee A, Lu AM, Ross AP, Borodinsky LN, Marcucio R, Trainor PA, Zarbalis KS.   +8 more
europepmc   +1 more source

Holistic bone developing microenvironment engineered apoptotic extracellular vesicles recapitulate multidimensional developmental signatures in adult and senile bone repair

Interdisciplinary Medicine, EarlyView.
The developing bone was identified as an M2a‐like macrophage driven immune microenvironment with multidimensional developmental signatures. hME‐ApoEVs were successfully fabricated via stimulating the M2a‐like developing microenvironment in vitro and confirmed its recapitulation of developmental features.
Xiaoran Yu, Jieyun Xu, Yuan Zhao, Xinyu Guo, Hongcheng Chen, Junlong Xue, Yong Ao, Linjun Zhang, Xiaomeng Gao, Xueli Mao, Songtao Shi, Zetao Chen   +11 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Relationships between cranial base synchondroses and craniofacial development: a review [PDF]

, 2010
: Synchondrosis is defined as the development of a union between two bones by the formation of either hyaline cartilage or fibro-cartilage. This paper reviews the relationship between cranial base synchondroses and craniofacial development.
Wong, RWK, Rabie, ABM, Cendekiawan, T
core   +2 more sources

Assessing the hidden risks of non‐thermal processing: Ultrasound‐induced toxicity of cashew apple juice in a zebrafish model

Journal of the Science of Food and Agriculture, EarlyView.
Abstract Background High‐intensity ultrasound is widely advocated for the preservation of liquid foods; however, the potential formation or release of toxic compounds during processing remains under‐investigated. This study evaluated the toxicological profile of cashew apple juice processed by high‐intensity ultrasound (1250, 1875, and 2500 W;L⁻¹ ...
Thaiz Batista Azevedo Rangel Miguel, Sergimar Kennedy de Paiva Pinheiro, Jorge Henrique de Andrade Vieira, Fabiano André Narciso Fernandes, Sueli Rodrigues, Emilio de Castro Miguel   +5 more
wiley   +1 more source

Synaptic Dysfunction in the Anterior Cingulate Cortex Underlies Pain‐Anxiety Comorbidity in a Mandibular Asymmetry Mouse Model

Advanced Science
Structural craniofacial abnormalities, particularly mandibular asymmetry (MA), are increasingly recognized as key drivers of orofacial pain and emotional comorbidities, although the underlying neural mechanisms remain unclear.
Zhaoyichun Zhang, Yanran Zhang, Jialin Si, Honghui Mao, Feng He, Jin Ning, Guaiguai Ma, Xiaohua Chen, Haoxiang Xiao, Yuanyuan Zhu, Haifeng Zhang, Yifan Lu, Qian Liu, Meng Nian, Shiquan Sun, Shibin Yu, Shengxi Wu, Ze Fan, Zuolin Jin, Jing Huang   +19 more
doaj   +1 more source

Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy

The Laryngoscope, EarlyView.
ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho, Yann‐Fuu Kou, Christopher Liu, Cynthia S. Wang, Felicity Lenes‐Voit, Stephen R. Chorney, Kenneth Lee, Seckin Ulualp, Ron B. Mitchell, Romaine F. Johnson   +9 more
wiley   +1 more source

The Natural History of Residual and Recurrent Disease in Advanced Juvenile Nasopharyngeal Angiofibroma: A Systematic Review

The Laryngoscope, EarlyView.
Residual and recurrent disease in advanced juvenile nasopharyngeal angiofibromas (JNAs) demonstrate spontaneous involution, reduction in size, or long‐term stability following initial treatment in 95% of patients. In this systematic review of 131 patients with advanced JNA, only 2% of patients demonstrated disease progression during surveillance, but ...
Shivani Angelique Kumar, Peter Petocz, Raewyn G. Campbell   +2 more
wiley   +1 more source