Results 181 to 190 of about 9,925 (218)

Epigenome-Wide Association Studies of Proteasome Inhibitor-Related Cardiotoxicity in Patients with Multiple Myeloma. [PDF]

Cancers (Basel)
Alshammari RA, Rubinstein SM, Farber-Eger E, Shaffer LL, Tantawy M, Alomar ME, Wells QS, Lenihan D, Cornell RF, Shain KH, Baz RC, Gong Y.   +11 more
europepmc   +1 more source

Vertebrate and Invertebrate Animal Models for the Study of Down Syndrome. [PDF]

Int J Mol Sci
Granholm AC.
europepmc   +1 more source

Disease-specific neuropathological alterations of the locus coeruleus in Alzheimer's disease, Down syndrome, and Parkinson's disease. [PDF]

Alzheimers Dement
Fructuoso M, Vermeiren Y, Boluda S, Stimmer L, Crans RAJ, Xicota L, Eisel U, Casan NO, Bun P, Duyckaerts C, Delabar JM, Strydom A, Van Dam D, Dierssen M, De Deyn P, Potier MC.   +15 more
europepmc   +1 more source

Genetic recording of pancreatic beta cell proliferation. [PDF]

Proc Natl Acad Sci U S A
Zhao H, Chen H, Kang Z, Huang X, Zhu J, Liu Z, Liu X, Han X, Lu J, Zhou B.   +9 more
europepmc   +1 more source

An inhibitory circuit-based enhancer of DYRK1A function reverses Dyrk1a-associated impairment in social recognition

Neuron, 2023
SUMMARYHeterozygous mutations in the Dual specificity tyrosine-phosphorylation-regulated kinase 1aDyrk1agene define a syndromic form of Autism Spectrum Disorder. The synaptic and circuit mechanisms mediating Dyrk1a functions in social cognition are unclear. Here, we identify a social experience-sensitive mechanism in hippocampal mossy fiber-parvalbumin
Amar Sahay
exaly   +4 more sources

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DYRK1A retinopathy

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2023
We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal ...
Louis Cai, Taku Wakabayashi, Yoshihiro Yonekawa, Barry N. Wasserman   +3 more
openaire   +2 more sources

Selective Macrocyclic Inhibitors of DYRK1A/B

ACS Medicinal Chemistry Letters, 2022
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A) is a therapeutic target of interest due to the roles it plays in both neurological diseases and cancer. We present the development of the first macrocyclic inhibitors of DYRK1A.
Chelsea E. Powell, John M. Hatcher, Jie Jiang, Prasanna S. Vatsan, Jianwei Che, Nathanael S. Gray   +5 more
openaire   +2 more sources

DYRK1A targets Pol II

Nature Reviews Molecular Cell Biology, 2015
exaly   +2 more sources

DYRK1A mutations in two unrelated patients

European Journal of Medical Genetics, 2015
The Dual-specify tyrosine phosphorylation-regulated kinase 1A (DYRK1A) gene has been extensively studied for its role in the pathophysiology of intellectual disability (ID) in Down syndrome. The rise of next generation sequencing (NGS) and array-CGH (aCGH) in diagnostic settings for the evaluation of patients with ID allowed the identification of 17 ...
Lyse, Ruaud, Cyril, Mignot, Agnès, Guët, Christelle, Ohl, Caroline, Nava, Delphine, Héron, Boris, Keren, Christel, Depienne, Valérie, Benoit, Isabelle, Maystadt, Damien, Lederer, Daniel, Amsallem, Juliette, Piard   +12 more
openaire   +2 more sources

Rock around DYRK1A: Ethnic diversity, clinical challenges

American Journal of Medical Genetics Part A, 2023
AbstractDYRK1A‐related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome.
Alice Moroni, Lidia Pezzani, Enrico Alfei, Agnese Scatigno, Anna Cereda, Michela Marzaroli, Claudia Guuva, Sara Gabbiadini, Laura Pezzoli, Daniela Marchetti, Luigina Spaccini, Maria Iascone   +11 more
openaire   +2 more sources