Results 101 to 110 of about 17,359 (221)

Növényi RNS degradációs rendszerek: a nonsense-mediated decay rendszer molekuláris biológiája = RNA degradation systems in plants: the molecular biology of nonsense-mediated decay system [PDF]

, 2010
A program célja a növényi Nonsense-mediated mRNA decay (NMD) rendszer molekuláris biológiájának megismerése volt. Az NMD egy ősi eukarióta minőségbiztosítási rendszer, amely felismeri és lebontja a korai stop kodonokat (PTC) tartalmazó mRNS-eket, ezáltal
Hangyáné Benkovics, Anna, Kerényi, Zoltán, Mérai, Zsuzsanna, Nyikó, Tünde, Silhavy, Dániel   +4 more
core  

Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model [PDF]

, 2011
AS (Apert syndrome) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2 [FGF (fibroblast growth factor) receptor 2].
Anderson, Beenken, Bochukova, Burgar, Celli, Cohen, De Moerlooze, Duan, Duchesne, Ezzat, Fairbanks, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hanneken, Ibrahimi, Jang, Jang, Jang, John K. Heath, Jones, Kawano, Klein, Kuro-o, Lee M. Wheldon, Lewis, Maquat, McKeehan, Mendell, Meyers, Miki, Mohammad K. Hajihosseini, Muhlemann, Naila Khodabukus, Naski, Nelson, Oldridge, Peters, Polanska, Ricol, Saito, Sekine, Slaney, Smith, Susannah J. Patey, Takaishi, Tanimoto, Terada, Terence G. Smith, Tsang, Tsukuno, Werner, Wheldon, Wilkie, Yamaguchi, Zhang   +57 more
core   +3 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 947-951, April 2026.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Polypyrimidine tract binding protein 1 protects mRNAs from recognition by the nonsense-mediated mRNA decay pathway

eLife, 2016
The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing long 3'UTRs to perform dual roles in mRNA quality control and gene expression regulation. However, expansion of vertebrate 3'UTR functions has required a physical expansion of 3'UTR
Zhiyun Ge, Bao Lin Quek, Karen L Beemon, J Robert Hogg   +3 more
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Genetic Characterization of smg-8 Mutants Reveals No Role in C. elegans Nonsense Mediated Decay [PDF]

, 2012
The nonsense mediated decay (NMD) pathway degrades mRNAs bearing premature translation termination codons. In mammals, SMG-8 has been implicated in the NMD pathway, in part by its association with SMG-1 kinase. Here we use four independent assays to show
Mango, Susan, Rosains, Jacqueline
core   +2 more sources

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source

Disrupted lipid homeostasis as a pathogenic mechanism in ABCA7‐associated Alzheimer's disease risk

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION ABCA7 (ATP binding cassette subfamily A member 7) encodes a lipid transporter associated with increasing risk for Alzheimer's disease (AD). A 44‐base pair deletion in ABCA7 (rs142076058; p.Arg578Alafs) is a strong risk factor in individuals of African ancestry (AA).
Younji Nam, Brooke A. DeRosa, Aura M. Ramirez, Biniyam A. Ayele, Patrice Whitehead‐Gay, Larry D. Adams, Charles G. Golightly, Takiyah D. Starks, Mayra Juliana Laverde‐Paz, Holly N. Cukier, Rufus Akinyemi, Fred Sarfo, Albert Akpalu, Michael L. Cuccaro, Scott M. Williams, Allison Caban‐Holt, Christiane Reitz, Jonathan L. Haines, Goldie S. Byrd, Farid Rajabli, Derek M. Dykxhoorn, Juan I. Young, Jeffery M. Vance, Margaret A. Pericak‐Vance   +23 more
wiley   +1 more source

A GFP-based reporter system to monitor nonsense-mediated mRNA decay [PDF]

, 2017
Aberrant mRNAs whose open reading frame (ORF) is truncated by the presence of a premature translation-termination codon (PTC) are recognized and degraded in eukaryotic cells by a process called nonsense-mediated mRNA decay (NMD).
Azzalin, Claus M., Hirschi, Nadine, Mühlemann, Oliver, Paillusson, Alexandra, Vallan, Claudio   +4 more
core