Results 61 to 70 of about 1,898 (155)

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

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly

Journal of Clinical Laboratory Analysis, 2022
AbstractBackgroundMandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital‐ or postnatal‐onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP‐binding domain‐containing 2) EFTUD2.MethodsWe report the case of a 16‐month‐old boy ...
Mei Yang, Yanyan Liu, Ziyuan Lin, Huaqin Sun, Ting Hu   +4 more
openaire   +2 more sources

Papilloomiviiruse transkriptsiooni ja regulaatorvalgu E2 uurimine [PDF]

, 2018
Väitekirja elektrooniline versioon ei sisalda publikatsioonePapilloomiviirused on viiruste perekond, mis nakatab nii inimeste kui loomade epiteelrakke ja põhjustab papilloome ehk näsakasvajaid, mis võivad teatud tingimustes areneda halvaloomulisteks ...
Sankovski, Eve
core  

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

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

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

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

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

A Novel tRF, HCETSR, Derived From tRNA‐Glu/TTC, Inhibits HCC Malignancy by Regulating the SPBTN1‐catenin Complex Axis

Advanced Science, Volume 12, Issue 13, April 3, 2025.
HCETSR, derived from tRNA‐Glu/TTC, binds to SPTBN1, promoting the dissociation of SPTBN1 from the catenin complex and facilitating the translocation of the catenin complex from the cell membrane to the nucleus. Meanwhile, HCETSR reduces proteasomal degradation of β‐catenin and synthesis of nascent β‐catenin.
Tao Rui, Kangbei Zhu, Zonglei Mao, Jiaping Wu, Yi Pan, Qianwei Ye, Cong Chen, Aizhai Xiang, Jufeng Guo, Ning Tang, Jing Zhang, Shusen Zheng, Jian Liu, Xiao Xu   +13 more
wiley   +1 more source