Results 61 to 70 of about 2,522,918 (175)

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

Heat Stress Triggers Nuclear Invagination and Spatial Compartmentalization of Protein Metabolism

Cell Proliferation, Volume 59, Issue 8, August 2026.
Cells adapt heat stress to shape a nuclear invagination region function as “protein metabolism hotspots”, where both protein production and degradation are enhanced. ABSTRACT Heat stress is a common challenge for cells, causing multiple types of cellular damage while triggering complex stress responses, including the highly conserved mechanism known as
Zhi‐Hao Zhang, Yuan‐Tao Qiu, Jing‐Yue Cao, Yi‐Feng Huang, Ye‐Lin Lan, Yu‐Li Zhao, Fu Wu, Chen‐Long Wang, Guo‐Run Tang, Jing‐Yun Ji, Zhang Zhang, Guan‐Zheng Luo   +11 more
wiley   +1 more source

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

Nature Communications, 2016
The TCOF1 gene is mutated in Treacher Collin's syndrome, a congenital craniofacial syndrome. Here, the authors show that Tcof1loss-of-function results in oxidative stress induced DNA damage and neuroepithelial cell death, and addition of antioxidants to ...
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A. Trainor   +4 more
doaj   +1 more source

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus [PDF]

Human Molecular Genetics, 1998
The TCOF1 gene product, treacle, responsible for the craniofacial disorder Treacher Collins syndrome, has been predicted to be a member of a class of nucleolar phosphoproteins based on its primary amino acid sequence. Treacle is a low complexity protein with ten repeating units of acidic and basic residues, each of which contains a large number of ...
S T, Winokur, R, Shiang
openaire   +2 more sources

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 680-687, August 2026.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 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

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source

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

Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
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

2278

Journal of Clinical and Translational Science, 2017
OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing ...
Alistair N. Ward, Matt Velinder, Chase Miller, Tony Di Sera, Yi Qiao, Dave Viskochil, Gabor Marth   +6 more
doaj   +1 more source

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

Advanced Functional Materials, Volume 36, Issue 36, 4 May 2026.
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