Results 51 to 60 of about 1,217 (167)

Evaluation of RNA Blood Biomarkers in the Parkinson’s Disease Biomarkers Program

Frontiers in Aging Neuroscience, 2018
There is a high misdiagnosis rate between Parkinson’s disease (PD) and atypical parkinsonian disorders (APD), such as progressive supranuclear palsy (PSP), the second most common parkinsonian syndrome. In our earlier studies, we identified and replicated
Jose A. Santiago, Virginie Bottero, Judith A. Potashkin   +2 more
doaj   +1 more source

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model [PDF]

Birth Defects Research Part A: Clinical and Molecular Teratology, 2015
BackgroundCongenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity.MethodsTo identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dystrophy, microcephaly, and other features, whole exome ...
Brett, Deml, Linda M, Reis, Sanaa, Muheisen, David, Bick, Elena V, Semina   +4 more
openaire   +2 more sources

The construction and validation of an RNA binding protein-related prognostic model for bladder cancer

BMC Cancer, 2021
Background RNA-binding proteins (RBPs) play crucial and multifaceted roles in post-transcriptional regulation. While RBPs dysregulation is involved in tumorigenesis and progression, little is known about the role of RBPs in bladder cancer (BLCA ...
Fengxia Chen, Qingqing Wang, Yunfeng Zhou   +2 more
doaj   +1 more source

Caspase‐mediated cleavage events hidden by secondary proteolysis during apoptosis

Protein Science, Volume 35, Issue 8, August 2026.
Abstract Caspases are cysteine proteases that cleave specific proteins to control a range of cellular processes including cell death, inflammation, and differentiation. Proteomic approaches, like N‐terminomics, have been central to identifying both cleaved proteins and where they are cleaved.
Fatemeh Fotouhi, Erik Gomez‐Cardona, Jainilkumar Patel, Olivier Julien, Howard Fearnhead   +4 more
wiley   +1 more source

Genotypes of embryos collected from matings of Eftud2^+/- with Eftud2^+/- mice on the C57BL/6 genetic background.

, 2019
Genotypes of embryos collected from matings of Eftud2+/- with Eftud2+/- mice on the C57BL/6 genetic background.
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Reduced Eftud2 mRNA and protein levels in heterozygous mice.

, 2019
Eftud2 mRNA levels was evaluated using RT-qPCR in E9.5 embryos on the mixed genetic background with primers flanking A) exon 2 or B) exons 15–16. WT = 3, HET = 3 (see Mat&Methods section for samples description).
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. [PDF]

, 2013
International audienceBACKGROUND: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536).
Johanna Czeschik, Rainer König, König, Rainer, Marcelis, Carlo, Teller, Christopher, Wieczorek, Dagmar, Reardon, Willie, Kuechler, A., Wieczorek, D., Czeschik, Johanna Christina, Teller, C., Konig, R., Voigt, Claudia, Christopher Teller, Smeland, M. Falkenberg, Brunner, Han G, Andreas Hehr, Ute Hehr, Voigt, C., Hehr, A., Hilde Monica Riise Stensland, Mégarbané, André, Schweiger, Bernd, Kornelia Neveling, Alma Kuechler, Riise Stensland, Hilde Monica,, Callewaert, Bert, Willie Reardon, André Mégarbané, Sven Rahmann, Deimling, F. von, Czeschik, Johanna, Christina, Brunner, H.G., Hehr, U., Hehr, Ute, Puiu, Maria, Rahmann, S., Maria Puiu, Stensland, H.M. Riise, Albrecht, Beate, Hehr, Andreas, Callewaert, B., Frostad Riise Stensland, Hilde Monica, Czeschik, J.C., Kuechler, Alma, Reardon, W., Marcel Martin, Falkenberg Smeland, Marie, Neveling, Kornelia, Marloes Steehouwer, Czeschik, Johanna,, Dagmar Wieczorek, Claudia Voigt, Megarbane, A., Puiu, M., Martin, Marcel, Riise Stensland, Hilde Monica Frostad, Steehouwer, M., Riise Stensland, Hilde Monica, Frostad, Ludecke, H.J., Schweiger, B., Albrecht, B., Florian von Deimling, Beate Albrecht, Neveling, K., Steehouwer, Marloes, Hermann-Josef Lüdecke, Han G Brunner, Bert Callewaert, Carlo Marcelis, Marie Falkenberg Smeland, von Deimling, Florian, Bernd Schweiger, Brunner, Han, Marcelis, C., Lüdecke, Hermann-Josef, Martin, M., Rahmann, Sven   +77 more
core   +2 more sources

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot

Frontiers in Cardiovascular Medicine, 2020
Functional variants in nuclear envelope genes are implicated as underlying causes of cardiopathology. To examine the potential association of single nucleotide variants of nucleoporin genes with cardiac disease, we employed a prognostic scoring approach ...
Riley J. Leonard, Riley J. Leonard, Claudia C. Preston, Melanie E. Gucwa, Melanie E. Gucwa, Yohannes Afeworki, Arielle S. Selya, Randolph S. Faustino, Randolph S. Faustino   +8 more
doaj   +1 more source