Results 271 to 280 of about 229,423 (345)

<i>MAPT</i> Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes. [PDF]

Biomedicines
Gagliardi M, Procopio R, Felicetti A, Annesi G, Talarico M, Vescio B, Quattrone A, Quattrone A.   +7 more
europepmc   +1 more source

Human amyotrophic lateral sclerosis/motor neuron disease: The disease‐associated microglial pathway is upregulated while APOE genotype governs risk and survival

Brain Pathology, EarlyView.
ALS/MND‐related inflammation is investigated in the motor cortex and spinal cord by both transcriptomics and immunohistochemistry. This reveals greater inflammation in the spinal cord and highlights the disease‐associated microglial (DAM) phenotype characterized by ApoE, TREM2, and TYROBP.
Bridget A. Ashford, Julie E. Simpson, Charlotte Dawson, Delphine Boche, Johnathan Cooper‐Knock, Paul R. Heath, Daniel Fillingham, Charlie Appleby‐Mallinder, Wenbin Wei, Mark Dunning, J. Robin Highley   +10 more
wiley   +1 more source

Genetic structuring and estimation of reproductive adults in Onchocerca volvulus: A genome-wide analysis across hosts and regions. [PDF]

PLoS Negl Trop Dis
Kumar P, Choi YJ, Fischer K, Hedtke SM, Kode A, Opoku N, Gankpala L, Ukety TO, Mande JL, Anderson TJC, Grant WN, Fischer PU, Mitreva M.   +12 more
europepmc   +1 more source

Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer

British Journal of Pharmacology, EarlyView.
Background and Purpose Chemotherapeutic treatment for colorectal cancer (colorectal cancer) allows for increased patient overall survival. However, current therapeutic regimens are often associated with the development of adverse drug reactions, which represent a morbidity, mortality and economic issue.
Ana Rita Simoes, Silvia Carlés González, María del Carmen Lopez‐Doldan, Goretti Duran, Ana Fernández‐Montes, Maria Perfecta Fernandez, Mercedes Salgado Fernandez, Jesus Garcia Mata, David Paez, Pau Riera, Elisabeth Guino, Luis Lopez‐Fernandez, Belen Garcia de Santiago, Elena López Aspiroz, Augusto Rojas, Antoni Castells, Sergi Castellvi‐Bel, Clara Ruiz Ponte, Veronika Vymetalkova, Angel Carracedo, Ceres Fernandez‐Rozadilla   +20 more
wiley   +1 more source

Phylogeographic history of <i>Parthenocissus</i> (Vitaceae) in North America based on chloroplast and nuclear DNA sequences. [PDF]

Front Plant Sci
Wu D, Meng Y, Wen J, Nie ZL.
europepmc   +1 more source

Genetic Association of Primary Angle‐Closure Glaucoma and Disease Progression

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.
Yu Jing Liang, Anni Ling, Poemen P. Chan, Jason C. Yam, Chi Pui Pang, Clement C. Tham, Li Jia Chen   +6 more
wiley   +1 more source

Comparative Analysis of Mammalian Adaptive Immune Loci Revealed Spectacular Divergence and Common Genetic Patterns. [PDF]

Mol Biol Evol
Pospelova M, Voss K, Zamyatin A, Watson CT, Koepfli KP, Bankevich A, Pennell M, Safonova Y.   +7 more
europepmc   +1 more source

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, EarlyView.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Exploring the mitochondrial DNA ancestry of patients with type 1 diabetes from an admixed population of the Northeast of Brazil. [PDF]

Sci Rep
Azulay RS, Ferreira LL, Gonçalves AB, Barbosa IJ, Rodrigues V, Facundo AN, Lago D, Nascimento GC, Magalhães M, Faria M, Turchetto-Zolet AC, Silva DA, Gomes MB.   +12 more
europepmc   +1 more source

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada

Clinical Genetics, EarlyView.
Using haplotype analysis, we characterized PMS2 c.2117del, identified in 22 families, as a founder variant in the French‐Canadian population of Quebec. It is the most frequent cancer‐associated founder variant in French‐Canadians, with over‐representation in five regions of Quebec. The variant contributed to colorectal and endometrial cancer incidence.
Anne‐Laure Chong, Alejandro Mejia‐Garcia, Supriya Behl, Zaki El Haffaf, Sébastien Chénier, Bruno Maranda, Valérie Désilets, Sébastien Lévesque, Lysanne Castonguay, Anne‐Marie Mes‐Masson, Sylvie Giroux, François Rousseau, Nancy Hamel, George Chong, Simon Gravel, William D. Foulkes   +15 more
wiley   +1 more source