Results 161 to 170 of about 111,740 (256)

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

Advancing rust resistance in elite wheat with haplotype mapping and a novel introgression strategy. [PDF]

J Exp Bot
Yadav S, Dillon S, McNeil M, Dinglasan E, Jambuthenne D, Mago R, Dodds PN, Hickey LT, Hayes BJ.   +8 more
europepmc   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

evo3D R package: a spatial haplotype framework for structure-informed analysis of molecular evolution. [PDF]

Mol Biol Evol
Broyles BK, He Q.
europepmc   +1 more source

QoALa: A comprehensive workflow for viral quasispecies diversity comparison using long-read sequencing data. [PDF]

PLoS Comput Biol
Pamornchainavakul N, Schroeder DC, VanderWaal K.   +2 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

High-Resolution NGS HLA Typing Identifies Specific Class II-Dominant Risk Haplotypes and HLA LD Structure in Acute Lymphoblastic Leukaemia Among Ethnic Kazakhs. [PDF]

HLA
Burkitbayev Z, Turganbekova A, Zhanzakova Z, Baimukasheva D, Saduakas Z, Khamitova D, Abdrakhmanova S, Masalimov Z, Almawi WY.   +8 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

Identification and comparative analysis of novel major histocompatibility complex-B haplotypes in Indonesian native chickens. [PDF]

Anim Biosci
Fernando R, Agulto TN, Manjula P, Kim M, Cho E, Kim J, Mustofa F, Maharani D, Lee JH.   +8 more
europepmc   +1 more source