Results 181 to 190 of about 28,373 (282)

Real-time imaging of transcriptional feedback in nonsense-mediated mRNA decay. [PDF]

Sci Adv
Islam MD, Das T, Singer RH, Sato H.
europepmc   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Report on the 7th Ottawa International Conference on Neuromuscular Disease & Biology - September 11-13, 2025, Ottawa, Canada. [PDF]

J Neuromuscul Dis
Warman-Chardon J, Jasmin BJ, Kothary R, Parks RJ.   +3 more
europepmc   +1 more source

The where and when of NMD [PDF]

Nature Reviews Molecular Cell Biology, 2013
openaire   +1 more source

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Clinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma, Neta Barnoy, Prakadeeswari Gopalakrishnan, Keren Dichter, Rotem Mizrachi, Manar Salameh, Eyal Banin, Dror Sharon, Adi Inbal, Samer Khateb   +9 more
wiley   +1 more source

Evolutionary framework and tribal circumscription of Amaranthaceae sensu stricto based on a comprehensive phylogenomic analysis

Cladistics, EarlyView.
Abstract The evolutionary history of Amaranthaceae sensu stricto (s.s.) has been shaped by multiple whole‐genome duplications and rapid radiations, producing an ecologically diverse lineage whose internal relationships have long remained unresolved.
Tina Kiedaisch, Anže Žerdoner Čalasan, Ross A. McCauley, Gudrun Kadereit   +3 more
wiley   +1 more source

<i>ADNP</i>-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance. [PDF]

Diagnostics (Basel)
Kablan A, Sezer A, Deniz A, Taşdelen E, Dinçsoy Bir F, Kolkıran A, Ataseven Kulalı M, Teralı K, Işık E.   +8 more
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Establishing polysomnographic criteria for initiation of non-invasive ventilation in children with neuromuscular diseases. [PDF]

J Clin Sleep Med
Dannenberg VC, Amin R, Anagnostopoulos G, Adeleye A, Bendiak GN, Kolski H, Castro-Codesal ML.   +6 more
europepmc   +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