Results 81 to 90 of about 2,316,916 (188)

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

eIF4E-bound mRNPs are substrates for nonsense-mediated mRNA decay in mammalian cells

, 2013
Eukaryotic mRNAs with premature translation-termination codons (PTCs) are recognized and degraded by a process referred to as nonsense-mediated mRNA decay (NMD).
Rufener, Simone
core  

In‐frame variants in TP53 gene identified in adult leukemia samples are predominantly deleterious: a study of the TP53 Network of Education and Research Initiative on CLL

The Journal of Pathology, EarlyView.
Abstract The prognostic and predictive impact of TP53 variants in leukemia led to their inclusion in diagnostic and treatment guidelines, increasing the demand for rapid, reliable laboratory analysis, interpretation, and reporting. While most TP53 variants identified in tumor samples can be interpreted using data from large‐scale functional studies ...
Šárka Pavlová, Johana Gombíková, Silvia Petrezsélyová, Libor Macůrek, Marcela Ženatová, Marie Zádrapová, Anna Panovská, Eva Zapletalová, Blanca Ferrer Lores, Alicia Serrano Alcalá, Eugen Tausch, Stephan Stilgenbauer, Fanny Baran‐Marszak, Gregory Lazarian, Miguel Alcoceba, Ana Balanzategui, Lisa Bonello, Ivana Ježíšková, Martina Sopkovičová, Silvia Zibellini, Marzia Varettoni, Audrey Bidet, Helena Podgornik, Sandra Šućurović, Riccardo Moia, Mónica López‐Guerra, Mark Catherwood, Šárka Pospíšilová, Jitka Malčíková   +28 more
wiley   +1 more source

Quantum‐Enhanced Weighted Gene Co‐Expression Network Analysis Reveals Regulatory Networks Underlying Sexual Size Dimorphism in Macrobrachium nipponense

Integrative Zoology, EarlyView.
A quantum‐enhanced weighted gene co‐expression network analysis framework integrating quantum amplitude amplification is developed to overcome sample size constraints in zoological genomics. This noise‐tolerant analytical strategy enables robust network reconstruction for non‐model species with limited biological replicates.
Seok‐Jin Kang, Hongchul Shin
wiley   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Investigation of premature termination codon recognition in nonsense-mediated mRNA decay

, 2014
Nonsense-mediated mRNA decay (NMD) is best known for its role in quality control of mRNAs, where it recognizes premature translation termination codons (PTCs) and rapidly degrades the corresponding mRNA. The basic mechanism of NMD appears to be conserved
Joncourt, Raphael
core  

Novel Transcripts from the human DKC1 gene [PDF]

, 2010
Dyskeratosis congenita is a rare genetic disorder that causes a variety of symptoms, including mucocutaneous features, stem cell dysfunction, telomere shortening, ribosomal failure and increased susceptibility to cancer.
Angrisani, Alberto
core   +1 more source

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

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

British Journal of Haematology, EarlyView.
Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications for clinical care and research.
Elena Vuelta, Alessandro Liquori, Matias Morín, Lucia Soletto, Miguel Ángel Marugal, Marta Santiago‐Balsera, Miguel Gallardo, Miguel Ángel Moreno‐Pelayo, José Cervera, Alejandra Sanjuan‐Pla   +9 more
wiley   +1 more source

NMD and the evolution of eukaryotic gene structure

, 2006
All cells are confronted with undesirable transcripts derived from mutant alleles, but the production of aberrant transcripts from otherwise normal DNA may be an even greater challenge.
Scofield, Douglas G.,, Lynch, Michael, Hong, Xin   +2 more
core