Results 61 to 70 of about 6,776,369 (200)

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

Cell autonomous regulation of herpes and influenza virus infection by the circadian clock. [PDF]

, 2016
Viruses are intracellular pathogens that hijack host cell machinery and resources to replicate. Rather than being constant, host physiology is rhythmic, undergoing circadian (∼24 h) oscillations in many virus-relevant pathways, but whether daily rhythms ...
Edgar, Rachel S, Efstathiou, Stacey, Nagy, Andras D, Nicoll, Michael P, O'Neill, John S, Reddy, Akhilesh B, Stangherlin, Alessandra   +6 more
core   +2 more sources

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

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +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

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  

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

Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction

Advanced Functional Materials, EarlyView.
Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch, Sandra Kessler, Simone Ponta, Anna Puiggalí‐Jou, Guoliang Lyu, Killian Flégeau, Anastasiya Martyts, Florian Roth, David Fercher, Filippo M. Rijli, Daniel Simmen, Eva Novoa Olivares, Thomas Linder, Marcy Zenobi‐Wong   +13 more
wiley   +1 more source

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Molecular Genetics & Genomic Medicine, 2021
Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and feet that ...
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali   +17 more
doaj   +1 more source

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