Results 21 to 30 of about 2,358 (194)

Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome [PDF]

Journal of Applied Genetics, 2012
Erratum to: J Appl Genetics DOI 10.1007/s13353-012-0091-3 Unfortunately, the original version of this article inadvertently contained errors: Is c.484_668ins185bp; Should be: c.483_484ins185 (the revised sentence appears 5 times: in abstract & main text).
Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr, Śmigiel, Robert, Trzeciak, Wiesław H.   +3 more
openaire   +2 more sources

m6A regulators-based gene expression pattern is associated with immune microenvironment characteristics in hepatocellular carcinoma [PDF]

Scientific Reports
To evaluate the relationship between N6-methyladenosine (m6A) modification-related genes and the immune microenvironment characteristics of hepatocellular carcinoma (HCC), and to evaluate the potential of targeting m6A regulators to sensitize HCC cells ...
Wenjuan Wang, Erxiong Wang, Kunqiao Hong, Wei Jiang, Banlai Ruan, Jie Liu, Jinping Tian, Feng Ding, Qiuyun Guo, Qianshan Ding   +9 more
doaj   +2 more sources

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome [PDF]

BMC Medical Genomics
Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole ...
Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren   +7 more
doaj   +2 more sources

TCOF1 is Identified to be an Unfavorable Biomarker and is Associated with Molecular Classification in Endometrial Cancer

Clinical and Experimental Obstetrics & Gynecology, 2022
Background: Endometrial cancer (EC) is one of the most common gynecologic cancers of the female reproductive system. Its incidence and mortality are currently increasing.
Caiqiu Xu, Qinghai Wang, Yilin Zhang, Qirun Guo, Huiping Jiang, Suiqun Guo   +5 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)

Stem Cell Research, 2021
Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c ...
Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang
doaj   +1 more source

An evolutionarily nascent architecture underlying the formation and emergence of biomolecular condensates

Cell Reports, 2023
Summary: Biomolecular condensates are implicated in core cellular processes such as gene regulation and ribosome biogenesis. Although the architecture of biomolecular condensates is thought to rely on collective interactions between many components, it ...
Nima Jaberi-Lashkari, Byron Lee, Fardin Aryan, Eliezer Calo   +3 more
doaj   +1 more source

A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome

Indian Journal of Ophthalmology
Subramanian Premkumar, Sathesh Baskaran, Naveena Muralikrishnan, Shiva S Sundar, Sundaresan Periasamy, George V Puthuran   +5 more
doaj   +3 more sources

Tissue Specific Roles for the Ribosome Biogenesis Factor Wdr43 in Zebrafish Development [PDF]

, 2014
During vertebrate craniofacial development, neural crest cells (NCCs) contribute to most of the craniofacial pharyngeal skeleton. Defects in NCC specification, migration and differentiation resulting in malformations in the craniofacial complex are ...
Andreeva, Viktoria, Baserga, Susan, Gibert, Yann, LaBonty, Melissa, Lattanzi, Victoria, McCann, Kathleen L., Prabhudesai, Shubhangi, Yelick, Pamela C., Zhao, Chengtian, Zhou, Yi, Zon, Leonard   +10 more
core   +9 more sources

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes

Life, 2022
The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations.
Bernardette Estandia-Ortega, Miriam Erandi Reyna-Fabián, José Antonio Velázquez-Aragón, Ariadna González-del Angel, Liliana Fernández-Hernández, Miguel Angel Alcántara-Ortigoza   +5 more
doaj   +1 more source

Cell-fate determination by ubiquitin-dependent regulation of translation. [PDF]

, 2015
Metazoan development depends on the accurate execution of differentiation programs that allow pluripotent stem cells to adopt specific fates. Differentiation requires changes to chromatin architecture and transcriptional networks, yet whether other ...
Fedrigo, Indro, Ingolia, Nicholas T, Iwasaki, Shintaro, McGourty, Colleen A, Medina-Ruiz, Sofia, Rape, Michael, Teerikorpi, Nia, Werner, Achim   +7 more
core   +1 more source