Results 301 to 310 of about 13,199,223 (392)

Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort. [PDF]

Hum Genet
Wei D, Cheng Z, Wei W, Gui C, Liu J, Chen H, Ma Y, Peng X, Yu D, Huang Y, Lai Y, Gui B.   +11 more
europepmc   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Genomic Scan for Runs of Homozygosity and Identification of Candidate Genes Under Domestication in Fengjing Pigs. [PDF]

Life (Basel)
Ni L, Gan H, Gu Z, Li S, Zhang J, Zhou C, Wang X, Xu P.   +7 more
europepmc   +1 more source

The Bacillus subtilis putative LysR-type transcriptional regulator YybE and its connection to chromosome replication and segregation. [PDF]

Access Microbiol
Koh A.
europepmc   +1 more source

Rare and common variants in ERAP1 and ERAP2 selected for in response to Yersinia pestis infection contribute to autoimmune disease including inflammatory bowel disease. [PDF]

Mamm Genome
Win LK, Cheng G, Ashton JJ, Kadhim AZ, Green Z, Beattie RM, Ennis S.   +6 more
europepmc   +1 more source

Diversify and conquer: How effector diversity is shaped by host-microbe co-evolution. [PDF]

PLoS Pathog
Müller MC, Brumm S, Hu Y, Kemen E, Lahaye T, Hückelhoven R.   +5 more
europepmc   +1 more source

Frequency of blaKHM-1, blaIMP-1,2 and blaSPM-1 genes in clinical isolates of metallo β-lactamase producing Pseudomonas aeruginosa in hospitalized burned patients in Ghotbeddin Shirazi Hospital

, 2015
Sajad Rostampour, A. A. Gorzin, Gholamreza Motamedi   +2 more
openalex   +1 more source

Transcriptomic Characterization of North Queensland Hepatocellular Carcinoma.

Oncology
Gillman R, Wankell M, Sun EJ, Ben David M, Karamatic R, Palamuthusingam P, Field MA, Schmitz U, Hebbard L.   +8 more
europepmc   +1 more source

TNFAIP3 Gene Polymorphisms and the Risk of Thrombocytopenia: A Cross-Sectional Study in Iranian Population. [PDF]

Health Sci Rep
Alizadeh Saadooni S, Eftekhar Z, Jalali Far MA, Saki N, Kydani GA, Karimpourian H, Aminasnafi A.   +6 more
europepmc   +1 more source

Validation of stearoyl-coA desaturase gene TaqMan probe-based SNP for genotyping Tattykeel Australian White MARGRA lamb for health-beneficial omega-3 long-chain fatty acids and intramuscular fat content. [PDF]

PLoS One
Malau-Aduli AEO, Pewan SB, Mwangi FW, Otto JR.   +3 more
europepmc   +1 more source