Results 51 to 60 of about 1,898 (155)

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula [PDF]

, 2016
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients.
Bever, Y. (Yolande) van, Beverloo, H.B. (Berna), Boemers, T.M. (Thomas M.), Brooks, A.S. (Alice), Brosens, E. (Erwin), Choinitzki, V. (Vera), Douben, H. (Hannie), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, Herms, S. (Stefan), Hilger, A.C. (Alina C), Hoffmann, P. (Per), Hölscher, A. (Alice), IJsselstijn, H. (Hanneke), Jong, E.M. (Elisabeth) de, Klein, A. (Annelies) de, Lacher, M., Ludwig, M. (Michael), Marsch, F. (Florian), Reutter, H. (Heiko), Schumacher, J. (Johannes), Scott, D.A., Tibboel, D. (Dick), Ure, B. (Benno), Van Opstal, A.R.M. (Diane), Wijnen, R.M.H. (René), Zaveri, H.P. (Hitisha)   +26 more
core   +1 more source

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy [PDF]

, 2021
Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy.
Abou Jamra, Rami, Heinze, Anja, Hentschel, Julia, Iannaccone, Antonella, Joset, Pascal, Kuechler, Alma, Lieberwirth, Johann Kaspar, Stein, Anja, Steindl, Katharina   +8 more
core   +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

A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. [PDF]

, 2016
Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11.
Ballas, Samir K., Ding, Liang-Hao, Hoppe, Carolyn, Liu, Li, Pace, Betty S, Pertsemlidis, Alexander, Sebastiani, Paola, Steinberg, Martin H, Story, Michael D   +8 more
core   +1 more source

Detained introns are a novel, widespread class of post-transcriptionally spliced introns [PDF]

, 2014
Deep sequencing of embryonic stem cell RNA revealed many specific internal introns that are significantly more abundant than the other introns within polyadenylated transcripts; we classified these as “detained” introns (DIs).
Bhutkar, Arjun, Boutz, Paul, Sharp, Phillip A.   +2 more
core   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

MedComm, Volume 6, Issue 12, December 2025.
Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source

TSC22D1 is a newly identified inhibitor of insulin secretion in pancreatic beta cells

The FEBS Journal, Volume 292, Issue 23, Page 6307-6329, December 2025.
TSC22D1 acts downstream of glucose signaling and negatively regulates insulin secretion in pancreatic beta cells. Mechanistically, TSC22D1 interacts with FoxO1. Elevated glucose levels enhance the TSC22D1–FoxO1 interaction indirectly by increasing the protein abundance of TSC22D1. Importantly, TSC22D1 and FoxO1 not only physically associate but also co‐
Sümbül Yıldırım, Amit Mhamane, Svenja Lösch, Annika Wieder, Ezgi Ermis, Ann‐Christine König, Sevgican Yilmaz, Stefanie M. Hauck, Fatih Kocabas, Julia Szendroedi, Stephan Herzig, Bilgen Ekim   +11 more
wiley   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, Volume 19, Issue 10, Page 2921-2935, October 2025.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Comprehensive Insights into Tracheoesophageal Fistula Pathophysiology, Diagnosis, Treatment, and Future Directions

Advanced Science, Volume 12, Issue 37, October 6, 2025.
Tracheoesophageal fistula (TEF), a pathological trachea‐esophagus connection, arises congenitally or from malignancy/radiotherapy/trauma, causing aspiration and malnutrition. Diagnosis utilizes imaging and endoscopy. Treatment ranges from endoscopic stenting to surgical repair and conservative management.
Gang Li, Zhe Wang, Jia Liu, Shenbo Fu, Longmei Xue, Zijun Liao, Rong Yang, Shanping Huang, Rui Xu, Peng Chen, Yong Chen   +10 more
wiley   +1 more source

Clinical application of exome sequencing in undiagnosed genetic conditions [PDF]

, 2012
BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of ...
Goldstein, David B, Hitomi, Yuki, McDonald, Marie T, Meisler, Miriam H, Need, Anna C, Schoch, Kelly, Shashi, Vandana, Shianna, Kevin V   +7 more
core   +2 more sources