Results 21 to 30 of about 2,522,918 (175)

The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)

Scientific Reports
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human ...
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux   +9 more
doaj   +2 more sources

A Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome. [PDF]

Cureus
Treacher Collins syndrome (TCS) is a rare genetic disorder. The clinical presentation of this syndrome can vary among members of the same family. The commonly associated genes with TCS are mostly inherited as autosomal dominant; however, rare autosomal recessive inheritance has been reported.
Tandon T, Thakral A, Moorthy D, Satani K, Roger K.   +4 more
europepmc   +3 more sources

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability [PDF]

European Journal of Human Genetics, 2013
Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene.
David Geneviève, Marie Vincent, Christian HERLIN   +2 more
exaly   +3 more sources

Nucleolar Organization in Response to Transcriptional Stress. [PDF]

Cancer Sci
In this review, we provide an overview of the research field on nucleolar regulation, mainly focusing on nucleolar organization under transcriptional stress. We also highlight the importance of ribosomal DNA stability, particularly in disease prevention, including cancer.
Imamura R, Yasuhara T.
europepmc   +2 more sources

Protein pyrophosphorylation by inositol pyrophosphates - detection, function, and regulation. [PDF]

FEBS Lett
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Lampe S, Mohanty TK, Bhandari R, Fiedler D.   +3 more
europepmc   +2 more sources

A tumor microenvironment-focused signature based on m6A and lactylation modification predicts prognosis and immunotherapy response in hepatocellular carcinoma. [PDF]

Discov Oncol
This study aims to investigate the role of lactylation and m6A modification-related genes in the tumor microenvironment and immunotherapy for hepatocellular carcinoma (HCC) patients.
Zhang S, Liu J, Guan J, Ren H.
europepmc   +2 more sources

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Background To elucidate the prenatal diagnostic challenges, genetic landscape, and clinical outcomes of Treacher Collins syndrome (TCS), focusing on the role of TCOF1 variants, prenatal ultrasound findings, and counselling implications.
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +2 more sources

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption. [PDF]

Orphanet J Rare Dis
Background Treacher Collins syndrome (TCS, MIM #154500), a severe congenital disorder, predominantly involves dysplasia of craniofacial bones and is characterized by features such as downslanting palpebral fissures, lower eyelid colobomas, microtia, and ...
Jiang Z, Mao K, Wang B, Zhu H, Liu J, Lang R, Xiao B, Shan H, Chen Q, Li Y, Zhao S, Zhang Q, Liu H, Zhang YB.   +13 more
europepmc   +2 more sources

The Treacher Collins syndrome ( TCOF1 ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor [PDF]

Proceedings of the National Academy of Sciences, 2004
Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1 , which encodes the nucleolar phosphoprotein treacle.
Valdez, Benigno C., Henning, Dale, So, Rolando B., Dixon, Jill; id_orcid 0000-0001-9774-7095, Dixon, Michael J.   +4 more
openaire   +4 more sources

Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV. [PDF]

BMC Pregnancy Childbirth
Treacher Collins syndrome is a congenital genetic disorder, also known as mandibulofacial dysostosis with deafness syndrome. In addition to distinct facial abnormalities, patients typically present with deafness and other associated manifestations, such ...
Zhang X, Liu X, Duan L, Liu X, Chen Y, Feng X, Wang C.   +6 more
europepmc   +2 more sources