Results 91 to 100 of about 41,960 (230)

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. [PDF]

, 2020
Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the mRNA ...
Bächinger, Hans Peter, Giunta, Cecilia, Gould, Douglas B, Holden, Paul, Ishikawa, Yoshihiro, Lim, Pei Jin, Mizuno, Nobuyo, Rohrbach, Marianne   +7 more
core  

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics [PDF]

, 2019
Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC).
Adam M Dubis, Ailsa A Welch, Andreas Mitsios, Andrew R Webster, Carter, Floquet, Freund, Gonzalez-Hilarion, Gotham, Hajrah Sarkar, Hug, Jane Skinner, Jolly, Keeling, Kerem, Linde, Linde, Lindeboom, Mariya Moosajee, Matthew Smart, Moosajee, Moosajee, Nagy, Nguyen, Nickless, Peixeiro, Pereira, Peter J Coffey, Richardson, Schwarz, Torriano, Usuki, Vasiliki Kalatzis, Welch, Yamashita, Zetoune   +35 more
core   +2 more sources

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM

eLife, 2020
Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that degrades aberrant mRNAs and also regulates the expression of a wide range of physiological transcripts.
Andres López-Perrote, Nele Hug, Ana González-Corpas, Carlos F Rodríguez, Marina Serna, Carmen García-Martín, Jasminka Boskovic, Rafael Fernandez-Leiro, Javier F Caceres, Oscar Llorca   +9 more
doaj   +1 more source

Nuclear processes associated with plant immunity and pathogen susceptibility [PDF]

, 2015
Plants are sessile organisms that have evolved exquisite and sophisticated mechanisms to adapt to their biotic and abiotic environment. Plants deploy receptors and vast signalling networks to detect, transmit and respond to a given biotic threat by ...
Huitema, Edgar, Kulagina, Natalja, Marques Monteiro Amaro, Tiago M., Motion, Graham B.   +3 more
core   +3 more sources

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Nonsense-mediated mRNA decay in humans at a glance [PDF]

Journal of Cell Science, 2016
ABSTRACT Nonsense-mediated mRNA decay (NMD) is an mRNA quality-control mechanism that typifies all eukaryotes examined to date. NMD surveys newly synthesized mRNAs and degrades those that harbor a premature termination codon (PTC), thereby preventing the production of truncated proteins that could result in disease in humans.
Tatsuaki, Kurosaki, Lynne E, Maquat
openaire   +2 more sources

Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

Haematologica, 2008
We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects,
Barbara Lunghi, Mirko Pinotti, Iva Maestri, Angelika Batorova, Francesco Bernardi   +4 more
doaj   +1 more source

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

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source