Results 51 to 60 of about 2,358 (194)

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

Mouth development [PDF]

, 2017
WIREs Developmental Biology published by Wiley Periodicals, Inc. A mouth is present in all animals, and comprises an opening from the outside into the oral cavity and the beginnings of the digestive tract to allow eating.
Adhikari, Amendt, Barlow, Barriga, Benouaiche, Boorman, Boxtel, Boyl, Boyle, Broun, Burns, Bush, Carmichael, Carmona-Fontaine, Carmona-Fontaine, Chai, Chiori, Cobourne, Couly, Couly, Crump, Dickinson, Dickinson, Dickinson, Eagleson, Fritzenwanker, Graham, Hill, Hinman, Hinman, Hobmayer, Houssin, Houssin, Hu, Huh, Jacox, Jacox, Keller, Keller, Kennedy, Khosrowshahian, Koop, Kurosaka, Lanctot, Liu, Liu, Magie, Malvasi, Martin-Duran, Martindale, Mayor, Medeiros, Minoux, Moura da Silva, Muncan, Murawski, Oliveri, Ornoy, Orup, Peter, Peter, Petersen, Poelmann, Reece, Saal, Saudemont, Scholz, Shi, Sinigaglia, Soukup, Szabo-Rogers, Tabler, Theveneau, Valdez, Van Otterloo, Veeman, Veistinen, Villavicencio, Watanabe, Waterman, Waterman, Waterman, Weichert, Yamada, Yoshikawa, Young, Yu, Zhang, Zorn   +88 more
core   +2 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.
Marie, Vincent, Corinne, Collet, Alain, Verloes, Laetitia, Lambert, Christian, Herlin, Catherine, Blanchet, Elodie, Sanchez, Séverine, Drunat, Jacqueline, Vigneron, Jean-Louis, Laplanche, Jacques, Puechberty, Pierre, Sarda, David, Geneviève   +12 more
openaire   +2 more sources

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 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. Even though the genetic alterations causing TCS have
Valdez, Benigno C., Henning, Dale, So, Rolando B., Dixon, Jill; id_orcid 0000-0001-9774-7095, Dixon, Michael J.   +4 more
openaire   +3 more sources

Selection signatures of fat tail in sheep [PDF]

, 2017
The investigation of the genes with a role in lipid metabolism enjoy considerable scientific and commercial interest because of the strong correlations between fat deposition and the risk of cardiovascular disease. The fat tail characteristic of sheep is
Ciani, E., Mastrangelo, S., Moioli, B., Pilla, F., Portolano, B.   +4 more
core   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
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

Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions. [PDF]

, 2018
Metazoan development depends on tightly regulated gene expression programs that instruct progenitor cells to adopt specialized fates. Recent work found that posttranslational modifications, such as monoubiquitylation, can determine cell fate also ...
Baur, Regina, Kaya, Deniz U, Rape, Michael, Teerikorpi, Nia, Werner, Achim   +4 more
core  

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, EarlyView.
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