Results 81 to 90 of about 1,902 (167)

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

TSC22D1 is a newly identified inhibitor of insulin secretion in pancreatic beta cells

The FEBS Journal, Volume 292, Issue 23, Page 6307-6329, December 2025.
TSC22D1 acts downstream of glucose signaling and negatively regulates insulin secretion in pancreatic beta cells. Mechanistically, TSC22D1 interacts with FoxO1. Elevated glucose levels enhance the TSC22D1–FoxO1 interaction indirectly by increasing the protein abundance of TSC22D1. Importantly, TSC22D1 and FoxO1 not only physically associate but also co‐
Sümbül Yıldırım, Amit Mhamane, Svenja Lösch, Annika Wieder, Ezgi Ermis, Ann‐Christine König, Sevgican Yilmaz, Stefanie M. Hauck, Fatih Kocabas, Julia Szendroedi, Stephan Herzig, Bilgen Ekim   +11 more
wiley   +1 more source

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways [PDF]

, 2023
Orofacial cleft (OC) is a common congenital anomaly in humans, which has lifelong implications for affected individuals. This disorder can be classified as syndromic or non-syndromic depending on the presence or absence of additional physical or ...
Kini, Usha, Newbury, Dianne F, Wilson, Kate   +2 more
core   +2 more sources

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, Volume 19, Issue 10, Page 2921-2935, October 2025.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

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  

Clinical application of exome sequencing in undiagnosed genetic conditions [PDF]

, 2012
BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of ...
Goldstein, David B, Hitomi, Yuki, McDonald, Marie T, Meisler, Miriam H, Need, Anna C, Schoch, Kelly, Shashi, Vandana, Shianna, Kevin V   +7 more
core   +2 more sources

Quantitative Analysis of HER2 Amplification by Droplet Digital PCR in the Follow-Up of Gastric Cancer Patients Being Treated with Trastuzumab after Surgery

Gastroenterology Research and Practice, 2019
Background. Circulating tumor DNA (ctDNA) derived from tumors is a promising biomarker for monitoring tumor status and evaluating therapeutic effects and prognosis.
Yanzhuo Liu, Maozhu Yang, Tao Jiang, Chunbin Lan, Hao Yuan, Guiquan Li, Guiqing Jia, Kang Wang, Gaoping Zhao   +8 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

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

EFTUD2 Is a Novel Innate Immune Regulator Restricting Hepatitis C Virus Infection through the RIG-I/MDA5 Pathway [PDF]

Journal of Virology, 2015
ABSTRACT The elongation factor Tu GTP binding domain-containing protein 2 (EFTUD2) was identified as an anti-hepatitis C virus (HCV) host factor in our recent genome-wide small interfering RNA (siRNA) screen. In this study, we sought to further determine EFTUD2's role in HCV infection and investigate the interaction between EFTUD2 and other ...
Chuanlong, Zhu, Fei, Xiao, Jian, Hong, Kun, Wang, Xiao, Liu, Dachuan, Cai, Dahlene N, Fusco, Lei, Zhao, Soung Won, Jeong, Cynthia, Brisac, Pattranuch, Chusri, Esperance A, Schaefer, Hong, Zhao, Lee F, Peng, Wenyu, Lin, Raymond T, Chung   +15 more
openaire   +2 more sources