Results 11 to 20 of about 29,866 (95)

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Molecular Genetics and Metabolism, 2023
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin.
N. Himmelreich, M. Bertoldi, M. Alfadhel, M. Alghamdi, Y. Anikster, X. Bao, Fahad A. Bashiri, B. B. Zeev, Giovanni Bisello, A. Ceylan, Y. Chien, Y. Choy, S. Elsea, Lisa Flint, À. García-Cazorla, C. Gijavanekar, Emel Gümüş, M. Hamad, B. Hismi, T. Honzík, Oya Kuseyri Hübschmann, W. Hwu, Salvador Ibáñez-Micó, K. Jeltsch, N. Juliá-Palacios, C. Kasapkara, M. Kurian, K. Kuśmierska, Ning Liu, L. Ngu, John D. Odom, W. Ong, T. Opladen, Mari Oppebøen, P. Pearl, Belén Pérez, Roser Pons, A. Rygiel, Tan Ee Shien, R. Spaull, J. Sykut-Cegielska, B. Tabarki, Trine Tangeraas, B. Thöny, T. Wassenberg, Y. Wen, Y. Yakob, J. G. Yin, J. Zeman, N. Blau   +49 more
semanticscholar   +1 more source

Tissue-specific Grb10/Ddc insulator drives allelic architecture for cardiac development.

Molecules and Cells, 2022
Allele-specific expression of imprinted gene clusters is governed by gametic DNA methylation at master regulators called imprinting control regions (ICRs).
Aimee M. Juan, Yee Hoon Foong, J. L. Thorvaldsen, Y. Lan, N. Leu, Joel G. Rurik, Li Li, Christopher J. Krapp, Casey L Rosier, J. Epstein, M. Bartolomei   +10 more
semanticscholar   +1 more source

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.

Molecular Genetics and Metabolism, 2022
Pathogenic variants in dopa decarboxylase (DDC), the gene encoding the aromatic l-amino acid decarboxylase (AADC) enzyme, lead to a severe deficiency of neurotransmitters, resulting in neurological, neuromuscular, and behavioral manifestations clinically
N. Himmelreich, R. Montioli, S. Garbade, Jeffrey W. Kopesky, S. Elsea, C. Carducci, C. Voltattorni, N. Blau   +7 more
semanticscholar   +1 more source

Melanin Synthesis Pathway Interruption: CRISPR/Cas9-mediated Knockout of dopa decarboxylase (DDC) in Harmonia axyridis (Coleoptera: Coccinellidae)

Journal of Insect Science, 2022
CRISPR/Cas9 technology is a very powerful genome editing tool and has been used in many insect species for functional genomics studies through targeted gene mutagenesis.
Meng-meng Wu, Xu Chen, Qingbiao Xu, L. Zang, Su Wang, Ming Li, D. Xiao   +6 more
semanticscholar   +1 more source

In Arabidopsis thaliana Cd differentially impacts on hormone genetic pathways in the methylation defective ddc mutant compared to wild type

Scientific Reports, 2021
DNA methylation plays an important role in modulating plant growth plasticity in response to stress, but mechanisms involved in such control need further investigation.
M. Pacenza, A. Muto, A. Chiappetta, L. Mariotti, E. Talarico, P. Picciarelli, E. Picardi, L. Bruno, M. B. Bitonti   +8 more
semanticscholar   +1 more source

Preclinical In Vitro Studies with 3D Spheroids to Evaluate Cu(DDC)2 Containing Liposomes for the Treatment of Neuroblastoma

Pharmaceutics, 2021
Preclinical in vitro studies of drug candidates for anticancer therapy are generally conducted on well-established 2D cell models. Unfortunately, these models are unable to mimic the properties of in vivo tumors.
F. Hartwig, M. Köll-Weber, R. Süss
semanticscholar   +1 more source

Revised Exon Structure of l-DOPA Decarboxylase (DDC) Reveals Novel Splice Variants Associated with Colorectal Cancer Progression

International Journal of Molecular Sciences, 2020
Colorectal cancer (CRC) is a highly heterogenous malignancy with an increased mortality rate. Aberrant splicing is a typical characteristic of CRC, and several studies support the prognostic value of particular transcripts in this malignancy.
P. Artemaki, Maria Papatsirou, Michaela A. Boti, P. Adamopoulos, S. Christodoulou, D. Vassilacopoulou, A. Scorilas, C. Kontos   +7 more
semanticscholar   +1 more source

Assembly of a pan-genome from deep sequencing of 910 humans of African descent

Nature Genetics, 2018
We used a deeply sequenced dataset of 910 individuals, all of African descent, to construct a set of DNA sequences that is present in these individuals but missing from the reference human genome.
Rachel M. Sherman, Juliet Forman, Juliet Forman, Valentin Antonescu, D. Puiu, M. Daya, N. Rafaels, M. Boorgula, S. Chavan, C. Vergara, V. Ortega, A. Levin, C. Eng, M. Yazdanbakhsh, James G. Wilson, J. Marrugo, L. Lange, L. Williams, H. Watson, L. Ware, C. Olopade, O. Olopade, R. Oliveira, C. Ober, Dan L. Nicolae, D. Meyers, Alvaro Mayorga, J. Knight-Madden, T. Hartert, N. Hansel, M. Foreman, J. Ford, M. Faruque, G. Dunston, L. Caraballo, E. Burchard, E. Bleecker, M. Araújo, E. Herrera-Paz, Monica Campbell, Cassandra Foster, M. Taub, T. Beaty, I. Ruczinski, R. Mathias, K. Barnes, S. Salzberg   +46 more
semanticscholar   +1 more source

Changes in mechanical properties of impregnated Nomex papers 410 and 910 during accelerated aging

, 2020
New materials are currently being developed for applications in transformer design. With the useful life of transformers now determined by solid insulation conditions, a better understanding of aging kinetics is important in order to improve electrical ...
O. Arroyo-Fernandez, J. Jalbert, E. Rodriguez-Celis, S. Duchesne, Brigitte Morin, I. Fofana   +5 more
semanticscholar   +1 more source

L-Dopa-Decarboxylase (DDC) Is a Positive Prognosticator for Breast Cancer Patients and Epinephrine Regulates Breast Cancer Cell (MCF7 and T47D) Growth In Vitro According to Their Different Expression of Gi- Protein- Coupled Receptors

International Journal of Molecular Sciences, 2020
A coherence between thyroid dysfunction and breast cancer incidence exists. Thyroid hormone metabolites bind to TAAR1 (trace amine-associated receptor 1) and through that modulate the serotonergic and dopaminergic system.
E. Tremmel, C. Kuhn, T. Kaltofen, T. Vilsmaier, D. Mayr, S. Mahner, N. Ditsch, U. Jeschke, A. Vattai   +8 more
semanticscholar   +1 more source