Results 101 to 110 of about 314 (196)

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

Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report

Frontiers in Oncology
Identification of a deep intronic PTEN pathogenic variant, which was not detected by standard DNA-targeted panel sequencing but was uncovered by targeted PTEN RNA sequencing using CaptureSeq technology, illustrates the added value of concurrent DNA and ...
Michael J Hall, Dong Won Kim, Devang Namjoshi, Michelle McSweeny, Marcy E Richardson, Ashley PL Marsh, Felicia Hernandez, Demitrios Dedousis   +7 more
doaj   +1 more source

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis

Human Genomics
Background Consanguinity provides shortcuts to identify homozygous recessive mutations. However, deep-intronic variants escape standard sequencing (panel; exome/WES), and their pathogenicity cannot be inferred from genomic data. We applied WES, long-read
Angelika Bolte, Clara Velmans, Christian Netzer, Eva Thimm, Ali Tunҫ Tuncel, Friederike Bürger, Milan Hiersche, Christian Betz, Hanno Jörn Bolz   +8 more
doaj   +1 more source

Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants

Ophthalmic Genetics
Autosomal recessive bestrophinopathy (ARB) typically results from biallelic BEST1 coding variants; however, the role of non-coding variants remains under-investigated. We report dizygotic twins with classic ARB who each initially appeared to carry only one frameshift mutation, later found to harbor a second deep intronic variant in trans.
Victor Lin, Eugene Yu-Chuan Kang, Laura Liu, Wei-Chi Wu, Nan-Kai Wang   +4 more
openaire   +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

Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome

npj Genomic Medicine
Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS).
Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz   +14 more
doaj   +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

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
付記する学位プログラム名: 京都大学卓越大学院プログラム「メディカルイノベーション大学院プログラム」
  +4 more sources

Quantitative analysis of DNA‐GATA1 binding alterations linked to hematopoietic disorders

The FEBS Journal, EarlyView.
Native holdup allows the quantitative determination of affinities between full‐length transcription factors and DNA. Mutations in either the protein or the DNA can modulate binding strength, which can be precisely quantified using this approach. Applied to GATA1, it revealed mutations that alter DNA binding.
Boglarka Zambo, Bastien Morlet, Luc Negroni, Orsolya Mózner, Balázs Sarkadi, Gilles Travé, Gergo Gogl   +6 more
wiley   +1 more source