Results 211 to 220 of about 152,197 (251)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

mGem: Toxins from killer plasmids as a universal killing system in the fungal kingdom. [PDF]

mBio
Heneghan PG, Wolfe KH.
europepmc   +1 more source

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

Spliceosomal proteins direct RNA methylation to modulate gene expression and silence retrotransposons. [PDF]

Nat Commun
Vijayakumari D, Gottfried X, Groubert B, Dhakshnamoorthy J, Jain S, Zofall M, Folco HD, Xiao H, Anil AT, Andresson T, Wheeler D, Grewal SIS.   +11 more
europepmc   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

Differentiation of subgenomes in StY-genomic species of the genus Elymus (Triticeae, Poaceae) from the territory of Russia according to sequencing data of the nuclear gene GBSS1 (waxy). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Agafonov AV, Shabanova Kobozeva EV, Bondar AA, Dorogina OV.   +3 more
europepmc   +1 more source

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

HnRNP C binding to inverted <i>Alu</i> elements protects the transcriptome from pre-mRNA circularization. [PDF]

Sci Adv
Marini A, Pitolli C, Ciccone S, Pieraccioli M, Robil N, Naro C, Palluzzi F, Giansanti M, Tamburrini G, Giacò L, de la Grange P, Nazio F, Bielli P, Sette C, Pagliarini V.   +14 more
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source