Results 71 to 80 of about 4,897 (187)

Neuroimaging features of WOREE syndrome: a mini-review of the literature

Frontiers in Pediatrics, 2023
The WWOX gene encodes a 414-amino-acid protein composed of two N-terminal WW domains and a C-terminal short-chain dehydrogenase/reductase (SDR) domain. WWOX protein is highly conserved among species and mainly expressed in the cerebellum, cerebral cortex,
Laura Battaglia, Giovanna Scorrano, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Corrado Spatola, Michele Iacomino, Franco Marinangeli, Elisa Francia, Francesco Comisi, Antonio Corsello, Vincenzo Salpietro, Vincenzo Salpietro, Alessandro Vittori, Emanuele David   +15 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

EHBP1, TUBB, and WWOX SNPs, Gene-Gene and Gene-Environment Interactions on Coronary Artery Disease and Ischemic Stroke

Frontiers in Genetics, 2022
The associations among the EH domain-binding protein 1 (EHBP1), tubulin beta class I (TUBB), and WW domain-containing oxidoreductase (WWOX) single nucleotide polymorphisms (SNPs) and coronary artery disease (CAD) and ischemic stroke (IS) are not yet understood.
Chun-Xiao Liu, Rui-Xing Yin, Xiao-Li Cao, Zong-Hu Shi, Feng Huang, Bi-Liu Wei, Guo-Xiong Deng, Peng-Fei Zheng, Yao-Zong Guan   +8 more
openaire   +3 more sources

Finding exclusively deleted or amplified genomic areas in lung adenocarcinomas using a novel chromosomal pattern analysis [PDF]

, 2009
10.1186/1755-8794-2-43BMC Medical ...
Philippe Broët, Patrick Tan, Marco Alifano, Sophie Camilleri-Broët, Sylvia Richardson, H Rajagopalan, BP Coe, SJ Diskin, C Klijn, R Beroukhim, P Broët, DJ Lunn, DJ Spiegelhalter, S Richardson, C Garnis, BA Weir, G Tonon, M Soda, S Perner, RC Gentleman, B Vogelstein, T Ried   +21 more
core   +3 more sources

Exosomal Non‐Coding RNAs in Gastrointestinal Cancer Drug Resistance: A Systematic Review of Emerging Mechanisms and Clinical Implications

Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
ABSTRACT Gastrointestinal (GI) tumours are one of the most prevalent cancers globally. Even with normal GI function, individuals may develop neoplasms, highlighting the need to better understand the underlying causes of tumorigenesis. The emergence of tumour drug resistance represents the main reason for the failure of drug treatment; thus, it is ...
Mohsen Sharif‐zak, Zahra Sadeghloo, Fateme Binayi, Stefania Nobili, Sara Ashtari, Amir Sadeghi, Nayeralsadat Fatemi   +6 more
wiley   +1 more source

WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.

Journal of Biochemical and Clinical Genetics, 2023
Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life.
Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi   +7 more
doaj   +1 more source

Synorth: exploring the evolution of synteny and long-range regulatory interactions in vertebrate genomes [PDF]

, 2009
Genomic regulatory blocks are chromosomal regions spanned by long clusters of highly conserved noncoding elements devoted to long-range regulation of developmental genes, often immobilizing other, unrelated genes into long-lasting syntenic arrangements ...
Dong, Xianjun, Fredman, David, Lenhard, Boris   +2 more
core   +3 more sources

Molecular Alterations in Osteosarcomas of the Oral and Maxillofacial Region: A Scoping Review

Journal of Oral Pathology &Medicine, Volume 55, Issue 4, Page 439-447, April 2026.
ABSTRACT Background Given the rarity and aggressive nature of osteosarcomas (OS) in the oral and maxillofacial region, understanding their molecular alterations is essential to improve diagnosis, prognosis, and guide targeted therapies. This study aimed to map molecular alterations associated with oral and maxillofacial OS, providing an overview of the
Iara Vieira Ferreira, Reydson Alcides de Lima‐Souza, Moisés Willian Aparecido Gonçalves, Carlos Takahiro Chone, Arthur Antolini‐Tavares, Albina Altemani, Fernanda Viviane Mariano   +6 more
wiley   +1 more source

Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies [PDF]

, 2011
Purpose This article provides a review of the transcriptomic expression profiling studies that have been performed on meningiomas so far. We discuss some future prospects and challenges ahead in the field of gene expression profiling.
Mads Aarhus, Morten Lund-Johansen, Per Morten Knappskog   +2 more
core   +2 more sources

Single Nucleotide Polymorphism Microarray Analysis Unveils Copy‐Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B‐Cell Precursor Acute Lymphoblastic Leukemia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) is a prevalent pediatric hematologic malignancy characterized by diverse chromosomal aberrations that significantly influence its prognosis. This study aimed to comprehensively characterize the genomic landscape of childhood BCP‐ALL in a cohort of 55 Malaysian patients.
Nor Soleha Mohd Dali, Nursaedah Abdullah Aziz, Muhamad Farid Zulkifle, Durar Aqilah Zamri, Nor Rizan Kamaluddin, Seoh‐Leng Yeoh, Betty Lee‐Sue Ho, Nazzlin Dizana Din, Azly Sumanty Ab Ghani, Wan Amal Hayati Wan Hassan, Zubaidah Zakaria, Ezalia Esa, Yuslina Mat Yusoff   +12 more
wiley   +1 more source