Results 111 to 120 of about 58,203 (304)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

Genomic Patterns of Homozygosity in Worldwide Human Populations

, 2012
Genome-wide patterns of homozygosity runs and their variation across individuals provide a valuable and often untapped resource for studying human genetic diversity and evolutionary history.
Myers, Richard M., Pemberton, Trevor J., Rosenberg, Noah A., Li, Jun Z., Absher, Devin, Feldman, Marcus W.   +5 more
core   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

PLoS Genetics, 2009
This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age ...
Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton   +12 more
doaj   +1 more source

Self‐Assembled Skin Equivalents with Monoclonal CRISPR/Cas9‐Modified N/TERT‐1 Keratinocytes: A Cutting‐Edge model for Human Skin and its Diseases

Advanced Healthcare Materials, EarlyView.
Self‐assembled, scaffold‐free full‐thickness skin equivalents with monoclonal, genetically modified N/TERT‐1 keratinocytes represent a novel in vitro model of human skin and skin diseases. The model is highly robust, reproducible, physiologically relevant, and suitable for high‐throughput applications.
Marta Slaufova, Tugay Karakaya, Michela Di Filippo, Thomas Kündig, Hans‐Dietmar Beer   +4 more
wiley   +1 more source

Visualization of "Runs of Homozygosity" segment [PDF]

, 2018
„Runs of homozygosity” su segmenti/cijele genomske regije gdje se identični haplotipovi nasljeđuju od svakoga roditelja. Od njihovog otkrića zbog tehnološkog napretka u 90-ima, „Runs of homozygosity” su otkrili podosta o podrijetlu genoma jedinke ...
Hrženjak, Marko
core  

Frequency of Favorable Alleles for Meat Quality, Litter Size, Adaptation, and Growth Traits in Closed Nucleus Population of Philippine Native Swine (Sus philippensis var. markaduke)

Cluj Veterinary Journal
The Philippine native swine (PNS) are heritage domestic animal genetic resources for food security and geo-cultural uses.  Among the PNS, the markaduke is known for the "best lechon" (roast whole pork) and comminuted pork products, moderate litter size (
Arnolfo Monleon
doaj   +1 more source

Gellan Gum Fluid Gel System for Controlled‐Delivery of Cytokine‐Licensed MSC‐EVs to Enhance Corneal Repair in Limbal Stem Cell Deficiency

Advanced Healthcare Materials, EarlyView.
Gellan gum fluid gel (FG) enables controlled ocular delivery of mesenchymal stromal cell (MSC)‐derived extracellular vesicles (EV). Its shear‐thinning, solid‐liquid‐solid rheology ensures prolonged ocular retention. Sustained MSC‐EV release (∼18% in 6 hrs) supports effective EV ocular delivery.
Seyedmohammad Moosavizadeh, Ava Dashti, Thomas E. Robinson, Robyn Gaffey, Richard Moakes, Neil Lagali, Liam Grover, Thomas Ritter   +7 more
wiley   +1 more source

Excess of homozygosity in the major histocompatibility complex in schizophrenia

, 2014
Genome-wide association studies (GWAS) in schizophrenia have focused on additive allelic effects to identify disease risk loci. In order to examine potential recessive effects, we applied a novel approach to identify regions of excess homozygosity in an ...
Malhotra, Anil, Ikeda, M., Pe\u27er, I., Guha, S., Mukherjee, S., Darvasi, A., Lencz, T., Iwata, N.   +7 more
core   +1 more source