Results 71 to 80 of about 1,682 (175)

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

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

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients [PDF]

, 2009
Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene.
Ornelas, Camila C., Camargo, Anamaria A., Moura, Ricardo, Gordonos, Alessandra Splendore, Masotti, Cibele Luiza, Felix, Temis Maria, Alonso, Nivaldo, Bueno, Maria Rita Passos   +7 more
core  

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

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Zebrafish tcof1 mRNA developmental expression pattern determined by semi-quantitative RT-PCR.

, 2012
A: Agarose gel electrophoresis of semi-quantitative RT-PCR products amplified for zebrafish tcof1 and ef1α mRNAs at the 1-cell stage, 6, 12, 24, 48, and 72 hpf stages.
Andrea M. J. Weiner (186515), Nadia L. Scampoli (186518), Nora B. Calcaterra (186519)   +2 more
core   +1 more source

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

FEBS Open Bio, Volume 16, Issue 3, Page 561-569, March 2026.
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

Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response

, 2019
The signal transduction pathway of the DNA damage response (DDR) is activated to maintain genomic integrity following DNA damage. The DDR promotes genomic integrity by regulating a large network of cellular activities that range from DNA replication and ...
Izhar, Lior, Sowa, Mathew, Elledge, Stephen, Huang, Jen-Wei, Ciccia, Alberto, Harper, J. Wade   +5 more
core   +1 more source

An epithelial-mesenchymal transition-related 5-gene signature predicting the prognosis of hepatocellular carcinoma patients

Cancer Cell International, 2021
Background Tumor metastasis is one of the leading reasons of the dismal prognosis of hepatocellular carcinoma (HCC). Epithelial-mesenchymal transition (EMT) is closely associated with tumor metastasis including HCC.
Gongmin Zhu, Hongwei Xia, Qiulin Tang, Feng Bi   +3 more
doaj   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source