Results 51 to 60 of about 2,522,918 (175)

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Molecular Genetics & Genomic Medicine
Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated ...
Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li   +7 more
doaj   +1 more source

Regulation of the Mouse Treacher Collins Syndrome Homolog (Tcof1) Promoter through Differential Repression of Constitutive Expression [PDF]

, 2008
Treacher Collins syndrome is an autosomal-dominant mandibulofacial dysostosis caused by haploinsufficiency of the TCOF1 gene product treacle. Mouse Tcof1 protein is approximately 61% identical and 71% similar to treacle, and heterozygous knockout of ...
Shows, Kathryn H., Kathryn H. Shows, Rita Shiang, Shiang, Rita   +3 more
core   +1 more source

Untangling Inositol (Pyro)Phosphate Biology Through Emerging Technologies

Advanced Science, Volume 13, Issue 50, 7 September 2026.
Inositol (pyro)phosphates represent a vital class of intracellular messengers that govern multiple biological processes. The last decade has experienced a surge of interest in the functions of this class of signaling molecules, primarily due to the introduction of several innovative analytical technologies.
Adolfo Saiardi, Mengsi Lu, Yue Zhang, Anuj Shukla, An‐Li Andrea Ko, Henning J. Jessen   +5 more
wiley   +1 more source

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome. [PDF]

HGG Adv
Summary: Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss-of-function variants in TCOF1, POLR1B, POLR1C, or POLR1D. Here, we describe two previously undiagnosed paternal half-siblings affected with clinical TCS, and their
Ferraro F, Kühn N, Rots D, van der Linde HC, Mohseni B, van Unen L, Drost M, Nellist M, Koekkoek M, Schot R, de Gier HW, Pleumeekers M, Barakat TS, Kleefstra T, Weerts M, van Dooren MF, van Ham TJ.   +16 more
europepmc   +2 more sources

A cancer stem cell associated gene signature for predicting overall survival of hepatocellular carcinoma

Frontiers in Genetics, 2022
Hepatocellular carcinoma (HCC) is the most prevalent type of primary liver cancer characterized by high mortality and morbidity rate. The lack of effective treatments and the high frequency of recurrence lead to poor prognosis of patients with HCC ...
Xin-Yi Liang, Yue Zhang, Ya-Nan He, Xue-Yi Liu, Zhi-Hao Ding, Xiao-Dong Zhang, Ming-You Dong, Run-Lei Du   +7 more
doaj   +1 more source

sj-docx-1-cpc-10.1177_10556656221125387 - Supplemental material for A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome

, 2022
Supplemental material, sj-docx-1-cpc-10.1177_10556656221125387 for A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome by Bin Yin, Yu-Ya Pang, Jia-Yu Shi, Yan-Song Lin, Jia-Lin Sun, Qian Zheng, Bing Shi and Zhong-
Yu-Ya Pang (13769378), Jia-Yu Shi (11647345), Qian Zheng (119404), Zhong-Lin Jia (11647348), Yan-Song Lin (13769381), Bing Shi (126231), Jia-Lin Sun (3358604), Bin Yin (120095)   +7 more
core   +1 more source

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Orphanet Journal of Rare Diseases, 2019
Background Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births.
Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen   +6 more
doaj   +1 more source

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

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

Frontiers in Genetics, 2021
PurposeThe conventional genetic screening for deafness involves 9–20 variants from four genes. This study expands screening to analyze the mutation types and frequency of hereditary deafness genes in Zhejiang, China, and explore the significance of in ...
Luhang Cai, Ya Liu, Yaping Xu, Hang Yang, Lihui Lv, Yang Li, Qiongqiong Chen, Xiaojiang Lin, Yihui Yang, Guangwei Hu, Guofeng Zheng, Jing Zhou, Qiyong Qian, Mei-ai Xu, Jin Fang, Jianjun Ding, Wei Chen, Jiong Gao   +17 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