Results 171 to 180 of about 277,505 (282)

Phased potato genome assembly and association genetics enable delineation of the H1 resistance locus against potato cyst nematodes. [PDF]

Theor Appl Genet
Cheung YW, Brown LH, Adams TM, Harrower B, Kaur A, McKenzie G, Orr J, Price J, Singh V, Smith M, Bayer M, Hein I.   +11 more
europepmc   +1 more source

Haplotype analysis and linkage disequilibrium for DGAT1 [PDF]

, 2010
Brockmann, Gudrun A., De Koning, Dirk-Jan, Rahmatalla, Siham, Strucken, Eva M.   +3 more
core  

A genetic risk score based on BCL11A and HBS1L‐MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients

British Journal of Haematology, EarlyView.
Summary Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co‐inheritance of genetic variants that regulate globin expression.
Gabriela S. Arcanjo, Alexsandro P. Silva, Madi V. Diniz, Igor F. Domingos, Diego A. Pereira‐Martins, Amanda B. Araújo, Talita S. S. França, Ana C. Anjos, Aderson S. Araujo, Edis Belini‐Junior, Sara T. O. Saad, Fernando F. Costa, Antonio R. Lucena‐Araujo, Marcos André C. Bezerra   +13 more
wiley   +1 more source

A haplotype-resolved genome assembly of hexaploid Kentucky-31 tall fescue (Lolium arundinaceum). [PDF]

G3 (Bethesda)
Bushman BS, Robbins MD, Behling WL, Waldron BL.   +3 more
europepmc   +1 more source

Associations between TMEM106B C‐terminal fragment aggregation, age, and TDP‐43 or tau pathology

Brain Pathology, EarlyView.
TMEM106B C‐terminal fragment (CTF) aggregation represents an age‐associated, common, diffuse phenomenon emerging after midlife with a weak association with TDP‐43 or tau pathology. These findings suggest that TMEM106B fibrillization may define a distinct axis of protein aggregation in the aging human brain. Abstract Transmembrane protein 106B (TMEM106B)
Albert Acewicz, Sylwia Tarka, Michał Grzegorczyk, Radosław Rzepliński, Teresa Wierzba‐Bobrowicz, Tomasz Stępień   +5 more
wiley   +1 more source

Distribution, genetic polymorphism and genotype prediction of Rhesus blood group antigens among the Kurdish population of Zakho, Kurdistan Region, Iraq. [PDF]

PLoS One
Zebari SA, Ahmed SS, Naqid IA, Muhammed SU, Muhi AS.   +4 more
europepmc   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

A Swedish Haplotype GWAS in Familial and Sporadic Site-Specific Colorectal Cancer. [PDF]

Int J Mol Sci
Vermani L, Barot S, Lindblom A.
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

A haplotype-phased male genome sequence of the stinging nettle, Urtica dioica ssp. dioica. [PDF]

Sci Data
Hirabayashi K, Percy D, González-Segovia E, Deyholos M, Cronk Q, Todesco M.   +5 more
europepmc   +1 more source