Results 91 to 100 of about 1,902 (167)

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, Volume 66, Issue 10, Page 4035-4052, October 2025.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source

The changes of peripheral blood hub genes in 24-week-old APP/PS1/Tau triple transgenic mouse model based on weighted gene co-expression network analysis [PDF]

Anais da Academia Brasileira de Ciências
Peripheral regulation emerges as a promising intervention in the early stages of Alzheimer’s disease (AD). The hub genes in the peripheral blood of MCI patients from GEO database (GSE63060, GSE63061) were screened using weighted gene co-expression ...
HEXU LIU, CHANGYIN YU, CHAO QIN
doaj   +1 more source

RNA Modifications in Health and Disease

MedComm, Volume 6, Issue 9, September 2025.
Changes in these components profoundly affect the m6A methylation process, leading to a range of physiological and pathological alterations. In recent years, research on the post‐translational modifications of these components has advanced, encompassing ubiquitination, phosphorylation, SUMOylation, O‐GlcNAcylation, and lactylation.
Shiqi Li, Ping Luo, Junli Fan, Yirong Li, Jiancheng Tu, Xinghua Long   +5 more
wiley   +1 more source

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later [PDF]

, 2017
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012.
A Verloes, C Shaw-Smith, CLM Marcelis, DL Baker, G Meroni, J Celli, JL Berliner, L Huang, LE Vissers, Linford A. Williams, M Lines, MA Lines, MD Graf, ML Guion-Almeida, ML Guion-Almeida, N Carstens, NA Quaderi, P Fabrizio, P Hsu, PA Deverka, R Combs, Shane C. Quinonez, SM Weissman, SR Lalani, TY Tan, Wendy R. Uhlmann, WR Uhlmann   +26 more
core   +1 more source

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model [PDF]

Birth Defects Research Part A: Clinical and Molecular Teratology, 2015
BackgroundCongenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity.MethodsTo identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dystrophy, microcephaly, and other features, whole exome ...
Brett, Deml, Linda M, Reis, Sanaa, Muheisen, David, Bick, Elena V, Semina   +4 more
openaire   +2 more sources

Identification of NIBAN2‐Regulated RUNX2 Alternative Splicing Presents Novel Strategies for Antagonizing Osteoporosis

Advanced Science, Volume 12, Issue 17, May 8, 2025.
NIBAN2 interacts with the HNRNPU‐cored spliceosome complex and alters its components to regulate the alternative splicing of RUNX2, which ultimately cause an increase in functional RUNX2 (nuclear localization sequence complete) but a decrease in dysfunctional Runx2 (exon 6‐exclusive) isoforms to reinforce osteoblast differentiation.
Sheng Zhang, Zhiqiang Yang, Yuanlong Xie, Yufeng Zhang, Zhe Chen, Xuan Lv, Zhouming Deng, Zan Huang, Lin Cai, Renxiong Wei   +9 more
wiley   +1 more source

Efficient algorithms to discover alterations with complementary functional association in cancer

, 2018
Recent large cancer studies have measured somatic alterations in an unprecedented number of tumours. These large datasets allow the identification of cancer-related sets of genetic alterations by identifying relevant combinatorial patterns.
Basso, Rebecca Sarto, Hochbaum, Dorit S., Vandin, Fabio   +2 more
core   +2 more sources

Eradication of unresectable liver metastasis through induction of tumour specific energy depletion. [PDF]

, 2019
Treatment of liver metastasis experiences slow progress owing to the severe side effects. In this study, we demonstrate a strategy capable of eliminating metastatic cancer cells in a selective manner.
Chen, Guojun, Chen, Qian, Gu, Zhen, Hu, Yong, Huo, Da, Jiang, Wei, Jiang, Xiqun, Luo, Xingyu, Zhang, Chao, Zhu, Jianfeng   +9 more
core  

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses [PDF]

, 2017
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells ...
Aoto, Aylsworth, Bernier, Beygo, Bhat, Bowman, Chakraborty, Chemke, Ciccia, Conley, Czeschik, Dai, Dai, Dauwerse, Deml, Devotta, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Edwards, Edwards, Fang, Fang, Fazen, Frisdal, Garden, Gladwin, Gonzales, Guion-Almeida, Hail, Hall, Haupt, Hayano, Isaac, Jones, Jones, Kennedy, Komarov, Kuo, Larsen, Lau, Le Douarin, Levine, Lin, Lohrum, Luquetti, Marechal, Marres, Marsh, Masotti, Miller, Ng, Noack Watt, Noden, Nur, Petit, Phelps, Poswillo, Rainger, Richter, Robert, Rovin, Sagar, Sakai, Sakai, Saudi Mendeliome, So RB, Splendore, Splendore, Splendore, Teber, The Treacher Collins Syndrome Collaborative Group, Toledo, Trainor, Trainor, Trainor, Trainor, Trainor, Trainor, Valdez, Vincent, Watanabe, Weaver, Werner, White, Winokur, Wise, Xue, Yao   +92 more
core   +1 more source