Results 251 to 260 of about 290,368 (328)

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

CloseRead: a tool for assessing assembly errors in immunoglobulin loci applied to vertebrate long-read genome assemblies. [PDF]

Genome Biol
Zhu Y, Watson C, Safonova Y, Pennell M, Bankevich A.   +4 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

A haplotype-resolved chromosomal reference genome for the porcini mushroom Boletus edulis. [PDF]

G3 (Bethesda)
Brejon Lamartinière E, Tremble K, Dentinger BTM, Dasmahapatra KK, Hoffman JI.   +4 more
europepmc   +1 more source

Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations

Cancer Science, EarlyView.
Complex interindividual U1 snRNA diversity was unveiled. Mutations in such complex loci were precisely detected with a pangenome graph reference, which enhances the possibility of the human pangenome reference in cancer genomics. ABSTRACT U1 small nuclear RNA (snRNA) mutations are recurrent non‐coding alterations found in various malignancies, yet ...
Takuma Nakashima, Tsubasa Miyauchi, Ryota Takeuchi, Yuriko Sugihara, Yusuke Funakoshi, Fumiharu Ohka, Sachi Maeda, Junko Hirato, Takako Yoshioka, Hajime Okita, Yoshitaka Narita, Yonehiro Kanemura, Yasuhiro Kojima, Yuko Watanabe, Ryuta Saito, Hiromichi Suzuki   +15 more
wiley   +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

A preliminary study on helminths detected in red foxes (Vulpes vulpes) in Bingol Province of Türkiye: morphological and molecular approaches. [PDF]

BMC Vet Res
Gunyakti Kilinc S, Kesik HK, Celik F, Simsek S.   +3 more
europepmc   +1 more source

Haptoglobin genotype, haemoglobin and malaria in Gambian children [PDF]

, 2007
Atkinson, SH, Cox, SE, Doherty, C, Fulford, T, Ghattas, H, Kwiatkowski, D, Nweneka, CV, Prentice, A, Rockett, K   +8 more
core  

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

Profiling Genetic Variation: Divergence Patterns and Population Structure of Thailand's Endangered <i>Celastrus paniculatus</i> Willd. [PDF]

Biology (Basel)
Kaenkham K, Pilap W, Saijuntha W, Thanonkeo S.   +3 more
europepmc   +1 more source