Results 81 to 90 of about 1,172 (162)

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

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

Comprehensive Insights into Tracheoesophageal Fistula Pathophysiology, Diagnosis, Treatment, and Future Directions

Advanced Science, Volume 12, Issue 37, October 6, 2025.
Tracheoesophageal fistula (TEF), a pathological trachea‐esophagus connection, arises congenitally or from malignancy/radiotherapy/trauma, causing aspiration and malnutrition. Diagnosis utilizes imaging and endoscopy. Treatment ranges from endoscopic stenting to surgical repair and conservative management.
Gang Li, Zhe Wang, Jia Liu, Shenbo Fu, Longmei Xue, Zijun Liao, Rong Yang, Shanping Huang, Rui Xu, Peng Chen, Yong Chen   +10 more
wiley   +1 more source

Representative images from in situ hybridation (ISH) showing Eftud2 expression in wild-type CD1 embryos at various developmental stages. [PDF]

, 2019
A) Wholemount ISH on E7.5 embryos using antisense (A1-A2) and sense probes (A3). Eftud2 is expressed in both embryonic (em) and extra-embryonic (ex) region. Eftud2 is found in headfold (hf), primitive streak (ps), amnion (am), allantois (al), chorion (c)
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +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

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

EFTUD2 and PTBP1 mRNAs as biomarkers for cognitive decline in PD. [PDF]

, 2015
A. Relative abundance of EFTUD2 in PD patients with normal cognition (circles) compared to PD patients with mild cognitive impairment (triangles). B. Relative abundance of PTBP1 in PD patients with normal cognition (circles) compared to PD patients with ...
Judith A. Potashkin (78869), Jose A. Santiago (141219)   +1 more
core   +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

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

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