Results 181 to 190 of about 231,107 (286)

Immunological features of acquired pure red cell aplasia: Specific human leucocyte antigen alleles, signal transducer and activator of transcription 3 mutations and a unique T‐cell receptor beta motif

British Journal of Haematology, EarlyView.
Summary T‐cell abnormalities have been implicated in the pathogenesis of acquired pure red cell aplasia (PRCA), particularly in its major subtypes such as idiopathic PRCA, thymoma‐associated PRCA and large granular lymphocytic leukaemia (LGLL)–associated PRCA, and the precise details remain unclear.
Naruaki Yamashita, Toru Kawakami, Shuji Matsuzawa, Shotaro Miyairi, Masae Maruyama, Fumihiro Kawakami, Shunsuke Kojima, Ryu Yanagisawa, Yumiko Higuchi, Hideki Makishima, Hideyuki Nakazawa, Fumihiro Ishida   +11 more
wiley   +1 more source

Dissection of local haplotype diversity at soybean rust loci reveals resistance-associated and context-dependent variation patterns in diverse germplasm. [PDF]

Theor Appl Genet
Mohamedikbal S, Al-Mamun HA, Marsh JI, Upadhyaya SR, Batley J, Edwards D.   +5 more
europepmc   +1 more source

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

Assessment of segregation variance estimates from derivation, simulations, and empirical data in autotetraploid species exemplified in potato. [PDF]

Genetics
Wu PY, Thelen K, Hartje S, Muders K, Prigge V, Stich B, Van Inghelandt D.   +6 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

Genetic diversity and conservation implications for European Griffon Vultures (Gyps fulvus): Insights from mitochondrial D-loop HVR1. [PDF]

Sci Rep
Mereu P, Davidović S, Pirastru M, Arrondo E, Margalida A, Scarpa F, Blanco G, Oliva-Vidal P, Martínez JM, Tanasković M, Hribšek I, Günther T, Miranda PM, Donázar JA, Cortés-Avizanda A, Zapata JAS, Dobrev D, Arkumarev V, Stamenov A, Xirouchakis S, Choresh Y, Hatzofe O, Hadjisterkotis E, Sušić G, Muzzeddu M, Bogliolo L, Naitana S, Leoni GG.   +27 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  

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

Genome-Wide Association Study Reveals Genetic Loci, Candidate Genes and Favorable Haplotypes for Important Agronomic Traits in <i>Auricularia cornea</i>. [PDF]

J Fungi (Basel)
Sun X, Lu L, Yao F, Fang M, Ma X, Cui Y, Sun J, Shan X, Liu W.   +8 more
europepmc   +1 more source

Haplotyp [PDF]

, 2018
openaire   +1 more source