Results 1 to 10 of about 79,857 (98)

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
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EV-301 long-term outcomes: 24-month findings from the phase III trial of enfortumab vedotin vs chemotherapy in patients with previously treated advanced urothelial carcinoma.

Annals of Oncology, 2023
INTRODUCTION This exploratory analysis evaluated efficacy and safety data for enfortumab vedotin versus chemotherapy over median follow-up of approximately 2 years from EV-301.
J. Rosenberg, T. Powles, G. Sonpavde, Y. Loriot, I. Durán, J. Lee, N. Matsubara, C. Vulsteke, D. Castellano, R. Mamtani, C. Wu, M. Matsangou, M. Campbell, D. Petrylak   +13 more
semanticscholar   +1 more source

Systems-level regulation of microRNA networks by miR-130/301 promotes pulmonary hypertension

Journal of Clinical Investigation, 2022
Development of the vascular disease pulmonary hypertension (PH) involves disparate molecular pathways that span multiple cell types. MicroRNAs (miRNAs) may coordinately regulate PH progression, but the integrative functions of miRNAs in this process have
T. Bertero, Yu Lu, S. Annis, Andrew E Hale, B. Bhat, R. Saggar, R. Saggar, W. Wallace, D. Ross, S. Vargas, B. Graham, Rahul Kumar, S. Black, S. Fratz, J. Fineman, J. West, K. Haley, A. Waxman, B. Chau, K. A. Cottrill, S. Y. Chan   +20 more
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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, J. Rurik, Li Li, Christopher J. Krapp, Casey L Rosier, J. Epstein, M. Bartolomei   +10 more
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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
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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
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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

KSI-301: antibody biopolymer conjugate in retinal disorders

Therapeutic Advances in Ophthalmology, 2021
KSI-301 is a new intravitreal anti-vascular endothelial growth factor (VEGF) antibody biopolymer conjugate under investigation for the treatment of age-related macular degeneration (AMD), diabetic macular oedema (DME) and retinal vein occlusion (RVO ...
P. Chandrasekaran, V. Madanagopalan
semanticscholar   +1 more source

A phase 2, randomized, double-blind, placebo-controlled trial of AMG 301, a pituitary adenylate cyclase-activating polypeptide PAC1 receptor monoclonal antibody for migraine prevention

Cephalalgia, 2020
Objective To assess the safety and efficacy of AMG 301, an inhibitor of the pituitary adenylate cyclase-activating polypeptide (PACAP)-1 (PAC1) receptor, for prevention of migraine.
M. Ashina, D. Doležil, J. Bonner, Lifen Zhou, J. Klatt, H. Picard, D. Mikol   +6 more
semanticscholar   +1 more source