Results 131 to 140 of about 912,126 (302)

Disulfidptosis‐ and Ferroptosis‐Related Gene Signatures in Rheumatoid Arthritis: Association Analysis and Diagnostic Model Construction

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by persistent synovial inflammation and progressive joint damage. Although ferroptosis has been implicated in RA progression, the role of disulfidptosis and its interaction with ferroptosis remains unclear.
Ting‐Ting Wang, Dong‐Mei Wang, Xue Li, Yuan‐Li Wei, Ping‐Dan Liu, Shi‐Lin Li, Si‐Ying Xiong, Cai‐Zhen Liu, Fan‐Xin Zeng, Jian‐Hong Wu, Lin Tang   +10 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

Imputing missing genotypes with weighted k nearest neighbors [PDF]

Motivation: Missing values are a common problem in genetic association studies concerned with single nucleotide polymorphisms (SNPs). Since most statistical methods cannot handle missing values, they have to be removed prior to the actual analysis ...
Schwender, Holger, Ickstadt, Katja
core  

Warming and predation drive rapid evolution of ecosystem functioning but not functional traits

Oikos, EarlyView.
Global environmental change can rapidly reshape phenotypic trait distributions through adaptive and neutral processes. Yet, disentangling their relative contributions remains a major challenge, particularly for traits underpinning ecosystem functioning.
Laure Olazcuaga, Emma Couranjou, Laura Fargeot, Allan Raffard, Romain Bertrand, Murielle Richard, Kéoni Saint‐Pé, Jérôme G. Prunier, Simon Blanchet   +8 more
wiley   +1 more source

A reference haplotype panel for genome-wide imputation of short tandem repeats

Nature Communications, 2018
Short-tandem repeats (STR), similar to single nucleotide polymorphisms (SNP), contribute to complex traits, but their ascertainment by next-generation sequencing is costly. Here, Saini et al.
Shubham Saini, Ileena Mitra, Nima Mousavi, Stephanie Feupe Fotsing, Melissa Gymrek   +4 more
doaj   +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

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Whole genome SNP genotype piecemeal imputation

, 2015
Background Despite ongoing reductions in the cost of sequencing technologies, whole genome SNP genotype imputation is often used as an alternative for obtaining abundant SNP genotypes for genome wide association studies.
Lin, Guohui, Wang, Yining, Stothard, Paul, Wylie, Tim   +3 more
core   +1 more source