Results 61 to 70 of about 1,682 (175)

RNA‐Protein Assemblies: A Review of Biophysical Principles and Coarse‐Grained Modeling Approaches

WIREs RNA, Volume 17, Issue 5, September/October 2026.
RNA‐protein assemblies in the nucleolus, nuclear speckles, and viral ribonucleoprotein complexes are governed by multivalent IDR‐RNA interactions that drive liquid–liquid phase separation. This review examines the molecular grammar underlying these systems and critically evaluates coarse‐grained computational frameworks for modeling their sequence ...
Muhammad Waleed Iqbal, Patrick R. Onck
wiley   +1 more source

Expression und Funktion von Bop1 und Tcof1 in der frühen Neuralentwicklung von Xenopus laevis

, 2022
Tcof1 und Bop1 sind Ribosomenbiogenesefaktoren, d.h. sie erfüllen eine relevante Funktion in der Ribosomenbiogenese. Die Mutation von TCOF1 im Menschen führt zur Ribosomopathie "Treacher Collins-Syndrom".
Meßmer, Annika
core   +1 more source

Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response [PDF]

Proceedings of the National Academy of Sciences, 2014
Significance The DNA damage response (DDR) maintains genomic integrity following DNA damage to prevent cancer and developmental disorders. The DDR operates in part through controlling localization of factors to chromatin. Here, we detail an interaction between the DDR protein NBS1 and TCOF1, a nucleolar protein mutated in Treacher ...
Ciccia, Alberto, Huang, Jen-Wei, Izhar, Lior, Sowa, Mathew, Harper, J. Wade, Elledge, Stephen   +5 more
openaire   +4 more sources

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients

Molecular Genetics & Genomic Medicine, 2021
Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features ...
Zhaoyu Pan, Hongen Xu, Bei Chen, Yongan Tian, Linlin Zhang, Sen Zhang, Danhua Liu, Huanfei Liu, Ruijun Li, Xinxin Hu, Jingyuan Guan, Wenxue Tang, Wei Lu   +12 more
doaj   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, Volume 26, Issue 8, Page 9-28, August 2026.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella, Jens Möller, Christopher Lischer, Julio Vera‐Gonzalez, Jörg Hofmann, Lisa Ott, Andreas Burkovski   +6 more
wiley   +1 more source

Supplementary Material for: First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

, 2017
Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the TCOF1 gene and follows autosomal dominant inheritance. Recently, mutations in the POLR1D and POLR1C genes
Prager B. (4131019), Wieczorek D. (4130404), Buiting K. (4131025), Beygo J. (4131028), Lüdecke H.-J. (4131031), Lohmann D.R. (4131034), Lich C. (4131037), Seland S. (4131022), Hehr U. (4131040)   +8 more
core   +1 more source

Treacher Collins syndrome – a case report

Case Reports in Perinatal Medicine, 2022
Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones.
Fraszczyk-Tousty Magda, Jankowska Agata, Tousty Joanna, Tousty Piotr, Łoniewska Beata   +4 more
doaj   +1 more source

Heat Stress Triggers Nuclear Invagination and Spatial Compartmentalization of Protein Metabolism

Cell Proliferation, Volume 59, Issue 8, August 2026.
Cells adapt heat stress to shape a nuclear invagination region function as “protein metabolism hotspots”, where both protein production and degradation are enhanced. ABSTRACT Heat stress is a common challenge for cells, causing multiple types of cellular damage while triggering complex stress responses, including the highly conserved mechanism known as
Zhi‐Hao Zhang, Yuan‐Tao Qiu, Jing‐Yue Cao, Yi‐Feng Huang, Ye‐Lin Lan, Yu‐Li Zhao, Fu Wu, Chen‐Long Wang, Guo‐Run Tang, Jing‐Yun Ji, Zhang Zhang, Guan‐Zheng Luo   +11 more
wiley   +1 more source

Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.

, 1997
Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region. We report the isolation of the entire mouse Tcof1 coding
Gridley, T, Jabs, E W, Paznekas, W A, Zhang, N   +3 more
core   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 680-687, August 2026.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source