Results 41 to 50 of about 2,326 (188)

Content-based microarray search using differential expression profiles [PDF]

, 2010
BackgroundWith the expansion of public repositories such as the Gene Expression Omnibus (GEO), we are rapidly cataloging cellular transcriptional responses to diverse experimental conditions. Methods that query these repositories based on gene expression
Jesse M Engreitz, Alexander A Morgan, Joel T Dudley, Rong Chen, Rahul Thathoo, Russ B Altman, Atul J Butte   +6 more
core   +3 more sources

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos, Ashokan, Bassett, Boutros, Burstyn-Cohen, Cooper, Creuzet, Dixon, Douarin, Douarin, Dudas, Ezaldein, Graham, Green, Hou, Hsu, Huang, Ibrahimi, Ishii, Ito, Jabs, Jones, Kaartinen, Lalani, Loeys, Matera, Minoux, Mishina, Miura, Nagashima, Noden, Papangeli, Pelaez, Perez-Alcala, Pingault, Reardon, Rinon, Rogers, Roscioli, Sanger, Santagati, Shprintzen, Simoes-Costa, Southard-Smith, Takahashi, Theveneau, Theveneau, Trainor, Wang, Winograd, Xu, Young   +51 more
core   +1 more source

A CASE OF TREACHER COLLINS SYNDROME

Balkan Journal of Medical Genetics, 2013
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.   +5 more
doaj   +1 more source

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

Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.

PLoS Genetics, 2023
Loss or absence of hearing is common at both extremes of human lifespan, in the forms of congenital deafness and age-related hearing loss. While these are often studied separately, there is increasing evidence that their genetic basis is at least ...
Daniel Hui, Shadi Mehrabi, Alexandra E Quimby, Tingfang Chen, Sixing Chen, Joseph Park, Binglan Li, Regeneron Genetics Center, Penn Medicine Biobank, Michael J Ruckenstein, Daniel J Rader, Marylyn D Ritchie, Jason A Brant, Douglas J Epstein, Iain Mathieson   +14 more
doaj   +1 more source

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1 [PDF]

Human Molecular Genetics, 1997
The gene mutated in Treacher Collins syndrome, an autosomal dominant disorder of facial development, has recently been cloned. While the function of the predicted protein, Treacle, is unknown, it has been shown to share a number of features with the highly phosphorylated nucleolar phosphoproteins, which play a role in nucleolar-cytoplasmic transport ...
Dixon, Jill, Hovanes, Karine, Shiang, Rita, Dixon, Michael J.   +3 more
openaire   +3 more sources

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources

The human RBPome: From genes and proteins to human disease [PDF]

, 2015
RNA binding proteins (RBPs) play a central role in mediating post transcriptional regulation of genes. However less is understood about them and their regulatory mechanisms.
Hashemikhabir, Seyedsasan, Janga, Sarath Chandra, Neelamraju, Yaseswini   +2 more
core   +1 more source

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

Insights into neural crest development and evolution from genomic analysis [PDF]

, 2013
The neural crest is an excellent model system for the study of cell type diversification during embryonic development due to its multipotency, motility, and ability to form a broad array of derivatives ranging from neurons and glia, to cartilage, bone,
Bronner, Marianne E., Simões-Costa, Marcos   +1 more
core   +1 more source