Results 121 to 130 of about 231,107 (286)

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

AlphaFold2 Reveals Structural Patterns of Seasonal Haplotype Diversification in SARS-CoV-2 Spike Protein Variants

Biology
The slow experimental acquisition of high-quality atomic structures of the rapidly changing proteins of the COVID-19 virus challenges vaccine and therapeutic drug development efforts.
Muhammad Asif Ali, Gustavo Caetano-Anollés   +1 more
doaj   +1 more source

Prognosis in Parkinson's Disease: An Individual Patient Data Meta‐Analysis of Six European Incidence Cohorts

Movement Disorders, EarlyView.
Abstract Background An accurate understanding of prognosis in Parkinson's disease (PD) is important for patient information provision, personalized treatment, and clinical trial design, but most previous research has been biased towards younger, healthier patients.
Angus D. Macleod, David J. McLernon, Marta Camacho, Caroline H. Williams‐Gray, Rachael A. Lawson, Alison J. Yarnall, David Bäckström, Lars Forsgren, Jodi Maple‐Grødem, Guido Alves, Ole‐Bjørn Tysnes, Carl E. Counsell, Parkinson's Incidence Cohorts Collaboration, Thomas Foltynie, Sarah L. Mason, Ruwani Wijeyekoon, Jonathan Evans, David P. Breen, Gemma Cummins, Krista Farrell, Kirsten Scott, Tom Stoker, Julia Greenland, Natalie Valle Guzman, Lucy Collins, Simon Stott, Jan Linder, Mona Edström, Jörgen Andersson, Linda Eriksson, Gun‐Marie Hariz, Magdalena Domellöf, Michaela Dreetz Gjerstad, Kenn Freddy Pedersen, Elin Bjelland Forsaa, Veslemøy Hamre Frantzen, Anita Laugaland, Johannes Lange, Karen Simonsen, Eldbjørg Fiske, Ingvild Dalen, Bernd Müller, Geir Olve Skeie, Marit Renså, Wenche Telstad, Aliaksei Labusau, Jane Kastet, Ineke HogenEsch, Marianne Kjerandsen, Liv Kari Håland, Karen Herlofson, Solgunn Ongre, Siri Bruun, David Burn, Lynn Rochester, Gordon W. Duncan, Tien K. Khoo, Kate S. M. Taylor, Robert Caslake, David J. M. McGhee, Diane Swallow, Joanne Gordon, Clare Harris, Ann Hayman, Nicola Johannesson, Hazel Forbes, Valerie Angus, Alasdair Finlayson, David Dawson, Katie Wilde, David Ritchie, Artur Wozniak, Adrian Martin   +72 more
wiley   +1 more source

Polymorphisms of ITGA9 Gene and Their Correlation with Milk Quality Traits in Yak (Bos grunniens)

Foods
A single-nucleotide polymorphism (SNP) is a genome-level trait that arises from a variation in a single nucleotide, leading to diversity in DNA sequences. SNP screening is commonly used to provide candidate genes for yak breeding efforts.
Mengfan Zhang, Xita Zha, Xiaoming Ma, Yongfu La, Xian Guo, Min Chu, Pengjia Bao, Ping Yan, Xiaoyun Wu, Chunnian Liang   +9 more
doaj   +1 more source

Stable Carbon and Nitrogen Isotope Analysis Explores Diverse Domestic Goose Management Practices in Medieval and Postmedieval Russia

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT Studying goose domestication through archaeological finds has been challenging due to the similar skeletal morphology of the European domestic goose and its wild progenitor, the greylag goose (Anser anser). We analyzed stable carbon (δ13C) and nitrogen (δ15N) isotopes from bone collagen of subfossil domestic and potentially domestic geese to ...
Johanna Honka, Clément Massé, Arthur O. Askeyev, Igor V. Askeyev, Oleg V. Askeyev, Jouni Aspi, Dilyara N. Shaymuratova, Laura Kvist   +7 more
wiley   +1 more source

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

Genetics and Molecular Biology, 2010
Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of ...
Wellington dos Santos Silva, Maria de Nazaré Klautau-Guimarães, Cesar Koppe Grisolia   +2 more
doaj  

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, EarlyView.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen, Satu Tiainen, Jouni Kujala, Linnea Muhonen, Ponnuswamy Mohanasundaram, Tuomas Tikkanen, Ina Pöhner, Tommi Patinen, Simone Adinolfi, Juha P Väyrynen, Päivi Auvinen, Arto Mannermaa, Petri Pölönen, Tuomas Rauramaa, Anna‐Liisa Levonen   +14 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

The potential of seedbank digital information in plant conservation

PLANTS, PEOPLE, PLANET, EarlyView.
Seedbanks are vital for biodiversity conservation, but their potential remains underutilised due to a limited understanding of the intraspecific genetic diversity they hold. By leveraging digitised data associated with seedbank collections, such as sampling locations, number of maternal plants and seed traits, we can attempt the estimation of genetic ...
Roberta Gargiulo, Sean Hoban, Anne M. Visscher, Pablo Gómez Barreiro, Roberta L. C. Dayrell, Kiran L. Dhanjal‐Adams, Alice R. Hudson, Charlotte E. Seal, Simon Kallow, Jan Sala, Lee Oliver, Naomi Carvey, Ted Chapman, Efisio Mattana, Clare Callow, Christopher Cockel, Michael F. Fay, Juan Viruel, Inna Birchenko, Stephanie Miles, Timothy Pearce, Paul Kersey, Elinor Breman, Kate A. Hardwick   +23 more
wiley   +1 more source

hapassoc: Software for Likelihood Inference of Trait Associations with SNP Haplotypes and Other Attributes

Journal of Statistical Software, 2006
Complex medical disorders, such as heart disease and diabetes, are thought to involve a number of genes which act in conjunction with lifestyle and environmental factors to increase disease susceptibility.
Kelly Burkett, Jinko Graham, Brad McNeney   +2 more
doaj