Results 151 to 160 of about 10,250,216 (364)

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

medRxiv, 2020
A. Popejoy, K. Crooks, S. Fullerton, L. Hindorff, G. Hooker, B. Koenig, N. Pino, E. Ramos, D. Ritter, H. Wand, M. W. Wright, M. Yudell, J. Zou, S. Plon, C. Bustamante, K. Ormond, Clinical Genome Resource Ancestry and Diversity Working Group   +16 more
semanticscholar   +1 more source

Function‐driven design of a surrogate interleukin‐2 receptor ligand

FEBS Letters, EarlyView.
Interleukin (IL)‐2 signaling can be achieved and precisely fine‐tuned through the affinity, distance, and orientation of the heterodimeric receptors with their ligands. We designed a biased IL‐2 surrogate ligand that selectively promotes effector T and natural killer cell activation and differentiation. Interleukin (IL) receptors play a pivotal role in
Ziwei Tang, Zelin Cheng, Teng Li, Fulian Wang, Liangminghui Zhang, Xiuxiu He, Lili Liu, Wei Wang, Aibin Liang, Guang Yang   +9 more
wiley   +1 more source

Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics [PDF]

, 2020
Inés Gómez‐Acebo, Sara Rodríguez Prado, Á. Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen‐Sotos, Javier Llorca   +6 more
openalex   +1 more source

Mechanisms of parasite‐mediated disruption of brain vessels

FEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira, Sílvia Arroz‐Madeira, Cláudio A. Franco, Sara Silva Pereira   +3 more
wiley   +1 more source

Genetics in psychiatry: Methods, clinical applications and future perspectives [PDF]

, 2022
Chiara Fabbri
openalex   +1 more source

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Whither social media and clinical genetics? [PDF]

Am J Med Genet A, 2023
Gunter C, Solomon BD.
europepmc   +1 more source

Data from Gender Disparities in the Tumor Genetics and Clinical Outcome of Multiple Myeloma

, 2023
Kevin Boyd, Fiona M. Ross, Laura Chiecchio, Gian Paolo Dagrada, Zoë J. Konn, William Tapper, Brian A. Walker, Christopher P. Wardell, Walter M. Gregory, Alex J. Szubert, Faith E. Davies, Gareth J. Morgan   +11 more
openalex   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source