Results 31 to 40 of about 6,776,369 (200)

A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

Journal of Genetic Medicine, 2013
wide copy number analysis on the patients who were negative for a TCOF1 mutation. They presents two additional susceptibility genes related to this disorder-POLR1D,POLR1C genes, which encode subunits of RNA polymerases I and III, account for ...
Ji Yang, Hyo Hyun Cha, H. Yoon
semanticscholar   +3 more sources

Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome

American Journal of Medical Genetics Part A, 2003
AbstractTreacher Collins syndrome (TCS) is caused by mutations in theTCOF1gene. This gene encodes a serine/alanine‐rich protein called treacle. The structure of the entireTCOF1gene was investigated in a patient with TCS. We detected a novel deletion (376delAAGGTGAGTGGGACTGCC) spanning 3 bp of exon 4 and 15 bp of the adjacent intronic sequence.
B. Marszalek, S. Wisniewski, P. Wójcicki, K. Kobus, W. Trzeciak   +4 more
semanticscholar   +3 more sources

Genotype-phenotype associations in microtia: a systematic review [PDF]

Orphanet Journal of Rare Diseases
Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi   +6 more
doaj   +2 more sources

The Role of Mutations on Gene TCOF1, in Treacher Collins Syndrome

American Journal of Surgery and Clinical Case Reports, 2021
Asadi S, Zarei Y, Hou Hs, J. P.J.
semanticscholar   +2 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

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

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   +2 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

CRISPR/Cas9 allows efficient and complete knock-in of a destabilization domain-tagged essential protein in a human cell line, allowing rapid knockdown of protein function. [PDF]

PLoS ONE, 2014
Although modulation of protein levels is an important tool for study of protein function, it is difficult or impossible to knockdown or knockout genes that are critical for cell growth or viability.
Arnold Park, Sohui T Won, Mickey Pentecost, Wojciech Bartkowski, Benhur Lee   +4 more
doaj   +1 more source