Results 141 to 150 of about 103,106 (291)

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Movement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila, Mariam Isayan, Yasser Mecheri, Paula Saffie‐Awad, María Milagros Leila, Laurel A. Screven, Hampton Leonard, Maria Teresa Periñan, Sheila Yeboah, Kristin Levine, Mary B. Makarious, on behalf of the Global Parkinson's Genetics Program (GP2)   +11 more
wiley   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Development and deployment of a public mid-density genotyping panel for crimson clover (Trifolium incarnatum L.) based on whole-genome re-sequencing of diverse germplasm. [PDF]

Plant Genome
Castillo MP, Oyebode OG, Talag J, Bunting V, Kaur N, Doran P, Barry K, Competti D, Schmutz J, Schlautman B, Humphries A, Ghamkhar K, Moore V, Rios E, Harkess A, Wolfe M.   +15 more
europepmc   +1 more source

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

Movement Disorders, EarlyView.
Abstract Introduction GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. Objectives Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
Yi Wen Tay, Andrew Leslie Lee, Jie Ping Schee, Chin‐Hsien Lin, Eng King Tan, Jung Hwan Shin, Pin‐Shiuan Chen, Sung‐Pin Fan, Cheng‐Hsuan Li, Ebonne Yu Lin Ng, Han Joon Kim, Beomseok Jeon, Sulev Koks, Huyen Thi Thanh Vu, Kin Ying Mok, Yi Ting Lim, Mohd Salahuddin Kamaruddin, Tzi Shin Toh, Hans Xing Ding, Anis Nadhirah Khairul Anuar, Norlisah Ramli, Ignacio J. Keller Sarmiento, Maria Teresa Periñan, Zih‐Hua Fang, Lara M. Lange, Kishore R. Kumar, Soraya Bardien, Joanne Trinh, Enza Maria Valente, SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2), Peter Heutink, Katja Lohmann, Christine Klein, Niccolò E. Mencacci, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan   +37 more
wiley   +1 more source

Recruitment of SUMOylated and tyrosine-phospholated c-Maf to c-Maf mediated cytokine genes in Th17 cells

, 2013
研究指出轉錄因子c-Maf在第二型輔助T細胞(Th2)當中能夠調控介白素四(IL-4)的基因表現，在我們實驗室之前的研究發現酪胺酸磷酸化與SUMO化的轉譯後修飾，都是調控轉錄因子c-Maf功能重要的一環，經由SUMO化修飾會減弱c-Maf所調控的介白素四 (IL-4)的表現，以及經由酪胺酸磷酸化修飾的c-Maf則會增強介白素四的表現，在其他的研究指出c-Maf 在輔助型T淋巴球當中能夠調控介白素十 (IL-10)、介白素二十一 (IL-21)與介白素二十二 (IL-22)的表現 ...
Cheng, Wan-Chen, 程婉珍
core  

In‐frame variants in TP53 gene identified in adult leukemia samples are predominantly deleterious: a study of the TP53 Network of Education and Research Initiative on CLL

The Journal of Pathology, EarlyView.
Abstract The prognostic and predictive impact of TP53 variants in leukemia led to their inclusion in diagnostic and treatment guidelines, increasing the demand for rapid, reliable laboratory analysis, interpretation, and reporting. While most TP53 variants identified in tumor samples can be interpreted using data from large‐scale functional studies ...
Šárka Pavlová, Johana Gombíková, Silvia Petrezsélyová, Libor Macůrek, Marcela Ženatová, Marie Zádrapová, Anna Panovská, Eva Zapletalová, Blanca Ferrer Lores, Alicia Serrano Alcalá, Eugen Tausch, Stephan Stilgenbauer, Fanny Baran‐Marszak, Gregory Lazarian, Miguel Alcoceba, Ana Balanzategui, Lisa Bonello, Ivana Ježíšková, Martina Sopkovičová, Silvia Zibellini, Marzia Varettoni, Audrey Bidet, Helena Podgornik, Sandra Šućurović, Riccardo Moia, Mónica López‐Guerra, Mark Catherwood, Šárka Pospíšilová, Jitka Malčíková   +28 more
wiley   +1 more source

Genome-wide association analysis of resistance to scald in an adapted multiparent winter malting barley population. [PDF]

Plant Genome
Kolkman JM, Sepp SS, Kunze K, Bergstrom GC, Sorrells ME.   +4 more
europepmc   +1 more source

Functionalized Graphene‐Reinforced Thermoplastic Polyurethane Nanocomposites: Thermomechanical and Magnetic Properties

Polymer Composites, EarlyView.
TrGO–Ni/Co Hybrid Nanocomposites: From Hydrothermal Synthesis to Melt Processing. ABSTRACT Polymeric nanocomposites have attracted significant interest for their low density, processability, and multifunctional properties, making them suitable for applications such as flexible electronics, sensors, biomedical devices, and functional coatings.
Bruno B. Storte, Muhammad Nisar, Javier I. B. Rocha, Mariel A. F. Aramayo, Rafael V. Maidana, Julian Geshev, Guillermo Ramírez, Danilo D. Siqueira, Ricardo J. E. Andrade   +8 more
wiley   +1 more source

MAF wt Allele [PDF]

, 2020
openaire   +1 more source