Results 131 to 140 of about 2,902,010 (219)

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Long non‐coding RNAs at the crossroads of inflammation, cancer and angiogenesis: Molecular mechanisms and their potential as therapeutic targets

British Journal of Pharmacology, EarlyView.
Long non‐coding RNAs (lncRNAs), a broad class of non‐protein‐coding RNAs, are characterized as new regulators of gene expression at the epigenetic, transcriptional, and post‐transcriptional level. Thus, lncRNAs are involved in the regulation of physiological processes and the development of human diseases and cancer by modulating proinflammatory ...
Charlie Leboff, Pamela Calle‐Mendoza, Maria Hatziapostolou, Christos Polytarchou   +3 more
wiley   +1 more source

SERPINE1 Alternative Polyadenylation Influences Gastric Cancer Prognosis via N6‐Methyladenosine Modification

Cancer Science, EarlyView.
Multi‐omics integration of the transcriptomic APA landscape and m6A modifications identifies key prognostic genes. Their biological functions and molecular mechanisms in promoting tumor progression are comprehensively validated through in vitro assays. ABSTRACT Alternative polyadenylation (APA) and N6‐methyladenosine (m6A) methylation are critical post‐
Zhuoyi Wu, Ruyun Xu, Ju Fang, Bing Liu, Cao Zhang, Shangxin Zhang, Jing Ni   +6 more
wiley   +1 more source

Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia

Movement Disorders, EarlyView.
Alexandra Rudnik, Mirja Thomsen, Vicente A. Yépez, Ai Huey Tan, Frauke Hinrichs, Sebastian Loens, Shen‐Yang Lim, Yi Wen Tay, Thomas Musacchio, Sören Franzenburg, Tobias Bäumer, Marius Möller, Hauke Busch, Christine Klein, Norbert Brüggemann, Katja Lohmann   +15 more
wiley   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

Clinical Genetics, EarlyView.
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Luana Giovannangeli, Elise Daire, Kahia Messaoudi, Didier Herent, Nathalie Desjeux, Emilie Lacot‐Leriche, Sarah Sauval, Sabine Dirani, Pascal De Groote, Didier Klug, Jean‐Benoit Baudelet, Alexandre Delarue, Olivia Domanski, Pierre‐Alexandre Fontanges, Jamal Ghoumid, Luisa Marsili, Alexis Hermida, Florence Jobic, Guillaume Jedraszak   +18 more
wiley   +1 more source

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

A guide to transcriptional cyclin‐dependent kinases in cancer

The FEBS Journal, EarlyView.
Transcriptional cyclin‐dependent‐kinases (tCDKs) facilitate gene expression by promoting RNA polymerase II (RNAPII) progression through discrete phases of the transcription cycle. Aberrant tCDK activity is detectable in different human cancers, thereby contributing to de‐regulated gene expression programs that drive oncogenic phenotypes.
Jennifer R. Devlin, Salla Kyheröinen, Ricky W. Johnstone   +2 more
wiley   +1 more source