Results 211 to 220 of about 337,686 (261)

Decoding the Gut‐Brain Axis: Multi‐Omics Reveals a Causal Chain Linking Human Genome, Gut Microbiota, Blood Metabolites, and Alertness in the Brain

Med Research, EarlyView.
This multi‐omics study identified genetic loci, gut microbiota, blood metabolites, and gray matter volumes of orbitofrontal cortex and cerebellum that were potentially relevant to alerting in healthy Chinese adults. Subsequent two‐step one‐sample Mendelian randomization further revealed a serial mediation pathway: Bacteroides intestinalis influences ...
Hongru Li, Chuansheng Chen, Ofir Turel, Yu Pu, Hong Chen, Tingyong Feng, Jiang Qiu, Xu Lei, Qinghua He   +8 more
wiley   +1 more source

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

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

α‐Synuclein Seeding Discriminates Between LRRK2 G2019S Variant Carriers with and Without Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Reliable biomarkers for Parkinson's disease (PD) pathology detection are essential for research. α‐Synuclein (aSyn) seed amplification assay (SAA) is a validated biomarker for misfolded aSyn. Objective The aim was to assess the association between aSyn SAA and LRRK2‐related PD (LRRK2‐PD) and its link to mitochondrial genetic burden.
Theresa Lüth, Carolin Gabbert, Teresa Kleinz, Christoph Much, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Matthew Farrer, Brian Fiske, Cornelis Blauwendraat, Christine Klein, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +13 more
wiley   +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

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Past, present and future of local crop evolution

PLANTS, PEOPLE, PLANET, EarlyView.
Promoting agrobiodiversity is a promising strategy for mitigating the negative effects of climate change on global food security. We highlight the central role evolutionary processes play in harnessing the potential of local crops by integrating genomics, archaeology, ethnobotany and traditional ecological knowledge (TEK).
Nataly Allasi Canales, Philippa Ryan, Amy Jackson, Hong Phuong Le, James Borrell, Aaron Davis, Rafal M. Gutaker   +6 more
wiley   +1 more source

From wild to tamed: Reimagining novel crops through omics and local plant diversity

PLANTS, PEOPLE, PLANET, EarlyView.
The global food system faces growing pressure from climate change, biodiversity loss, and rising nutritional demands. Agriculture has increased yields but reduced crop diversity, flavor, and nutritional quality, leaving societies vulnerable and dependent on a narrow set of staple species.
Alexandra Sanfeliu Meliá, Pablo D. Cárdenas   +1 more
wiley   +1 more source

Genomic insights into the local adaptation of spontaneous olive trees in the Mediterranean Basin highlight the need for conservation planning in the face of global change

PLANTS, PEOPLE, PLANET, EarlyView.
The Mediterranean Basin, a major biodiversity hotspot, is highly vulnerable to climate and global changes. Wild olive trees form an essential part of this landscape and hold strong ecological, cultural and socio‐economic significance. By examining how these trees responded to past climatic conditions, this study shows adaptation of olive trees to local
Lison Zunino, Gautier Sarah, Lorenzo Rocchetti, Bénédicte Rhoné, Alexandre Soriano, Gaëtan Droc, Pierre Mournet, Ahmed El Bakkali, Evelyne Costes, Bouchaib Khadari, Philippe Cubry   +10 more
wiley   +1 more source