Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third ...
Wei Shin Chou +5 more
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Nucleolar Organization in Response to Transcriptional Stress. [PDF]
Cancer SciIn 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
Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption [PDF]
Orphanet Journal of Rare DiseasesBackground 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 ...
Zhuoyuan Jiang +13 more
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FOSL1 is a key regulator of a super-enhancer driving TCOF1 expression in triple-negative breast cancer [PDF]
Epigenetics & ChromatinTriple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with an unmet clinical need, but its epigenetic regulation remains largely undefined.
Qingling He +11 more
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Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy [PDF]
Orphanet Journal of Rare DiseasesBackground 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.
Chunling Li +7 more
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A tumor microenvironment-focused signature based on m6A and lactylation modification predicts prognosis and immunotherapy response in hepatocellular carcinoma [PDF]
Discover OncologyThis study aims to investigate the role of lactylation and m6A modification-related genes in the tumor microenvironment and immunotherapy for hepatocellular carcinoma (HCC) patients.
Shaohui Zhang +3 more
doaj +2 more sources
A Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome. [PDF]
CureusTreacher 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 +4 more
europepmc +3 more sources
Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV [PDF]
BMC Pregnancy and ChildbirthTreacher 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 ...
Xiaoyun Zhang +6 more
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Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization [PDF]
Orphanet Journal of Rare DiseasesBackground Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncertain.
Ying Chen +5 more
doaj +2 more sources
Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes [PDF]
The Journal of Clinical InvestigationBirth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin resulting from complex gene-environment interactions.
Sharien Fitriasari +6 more
doaj +2 more sources