Results 41 to 50 of about 4,066 (131)

Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background Pediatric malignancies have emerged as the leading cause of disease‐related mortality in children, exhibiting distinct etiological and molecular characteristics compared to adult cancers. Despite advances in genomic profiling, the molecular landscape of pediatric solid tumors, particularly in Chinese populations, remains ...
Bingxiao Yan, Jinhu Wang, Jieni Xiong, Shuangai Liu, Yinbing Tang, Ziqi He, Hujin Yan, Bize Guo, Chen Chen, Yijie Zhang, Qinfang Zhu, Jiabin Cai, Min He, Xuan Wu, Junqing Mao, Lifeng Zhang, Weizhong Gu, Zhu Zhu, Zheming Li, Rui Xiao, Qiang Shu, Gang Yu, Ting Tao   +22 more
wiley   +1 more source

The Tap‐to‐Safety Task: A Novel fMRI Paradigm Assessing Repetitive Threat‐Neutralization

Human Brain Mapping, Volume 47, Issue 3, 15 February 2026.
In this study, we present a novel task to model repetitive threat‐neutralization behavior during neuroimaging. Results suggest that the dorsal anterior cingulate cortex (dACC), anterior insula, and dorsal striatum interact to drive neutralization behavior in the face of perceived threats.
Hannah Berg, Riley Rozniarek, Aardron Robinson, Rayus Kuplicki, Annette Rostel, Nate Mungunkhet, Ryan Smith, H. Blair Simpson, Martin P. Paulus, Robin L. Aupperle   +9 more
wiley   +1 more source

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Acta Haematologica Oncologica Turcica
Aim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran, Melike Ataseven Kulalı, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule Yeşil, Gürses Şahin   +8 more
doaj   +1 more source

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BMC Medical Genetics, 2017
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu   +4 more
doaj   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Prague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová   +9 more
doaj   +1 more source

Distinct Molecular and Prognostic Profiles of Left‐ and Right‐Sided Colorectal Cancer Revealed by NGS Analysis: The Role of SMAD4 and SETD2 Mutations

Cancer Medicine, Volume 15, Issue 1, January 2026.
ABSTRACT Background Colorectal cancer (CRC) isthe third most common cancer and the second leading cause of cancer‐relateddeath worldwide. Its genetic heterogeneity complicates treatment. This studyaimed to compare clinicopathological, molecular, and prognostic factors betweenleft‐sided (LCC) and right‐sided (RCC) CRC.
Wenlei Zhao, Yuxuan Qiu, Na Bai, Chunhong He, Jiani C. Yin, Qianru Xu, Kaiyu Jian, Baolei Jia, Lin Jiang, Feng Liang   +9 more
wiley   +1 more source

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Hereditary Cancer in Clinical Practice, 2004
Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Hameetman Liesbeth, Bovée Judith VMG, Taminiau Antonie HM, Kroon Herman M, Hogendoorn Pancras CW   +4 more
doaj   +1 more source

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies

Frontiers in Genetics, 2021
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or ...
Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer, Aleksander Jamsheer   +9 more
doaj   +1 more source

MMP2 Sheds Glypican‐4 to Suppress Slit3‐Robo4 Signaling and Angiogenesis

Proteoglycan Research, Volume 4, Issue 1, January 2026.
ABSTRACT Axon guidance molecules, initially identified for their roles in neural development, are now recognized as crucial regulators of angiogenesis and blood vessel patterning. Among these, Slit3 promotes endothelial cell migration, proliferation, and vascular network formation by signaling through the endothelial‐specific receptor Robo4.
Wenyuan Xiao, Alexander R. Orta, Jingwen Yue, Xuehong Song, Huquan Yin, Lianchun Wang   +5 more
wiley   +1 more source