The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Autor: Eeds, A.M., Hall, L.D., Yadav, M., Willis, A., Summar, S., Putnam, A., Barr, F., Summar, M.L.

Publikováno v: In Molecular Genetics and Metabolism 2006 89(1):80-86

Update on the Role of β2AR and TRPV1 in Respiratory Diseases.

Autor: Manti, Sara¹ (AUTHOR) smanti@unime.it, Gambadauro, Antonella¹ (AUTHOR) francygall.92@gmail.com, Galletta, Francesca¹ (AUTHOR), Ruggeri, Paolo² (AUTHOR) gambadauroa92@gmail.com, Piedimonte, Giovanni³ (AUTHOR) gpiedimonte@tulane.edu

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10234. 19p.

Increased Oxidative Stress and Decreased Citrulline in Blood Associated with Severe Novel Coronavirus Pneumonia in Adult Patients.

Autor: Tsuge, Mitsuru¹ (AUTHOR) tsugemitsuru@okayama-u.ac.jp, Ichihara, Eiki² (AUTHOR) ichiha-e@md.okayama-u.ac.jp, Hasegawa, Kou³ (AUTHOR) khasegawa@okayama-u.ac.jp, Kudo, Kenichiro⁴ (AUTHOR) kudoken19800411@yahoo.co.jp, Tanimoto, Yasushi⁵ (AUTHOR) tanimoto.yasushi.tq@mail.hosp.go.jp, Nouso, Kazuhiro⁶ (AUTHOR) kazunouso@gmail.com, Oda, Naohiro⁷ (AUTHOR) dancingqueen121212@gmail.com, Mitsumune, Sho⁴ (AUTHOR) mitsumune.sho.mr@mail.hosp.go.jp, Kimura, Goro⁵ (AUTHOR) kimura.goro.mb@mail.hosp.go.jp, Yamada, Haruto⁸ (AUTHOR) hyamada427@gmail.com, Takata, Ichiro⁷ (AUTHOR) takata.ichiro@gmail.com, Mitsuhashi, Toshiharu⁹ (AUTHOR) mitsuh-t@cc.okayama-u.ac.jp, Taniguchi, Akihiko² (AUTHOR) atgcuacg@gmail.com, Tsukahara, Kohei¹⁰ (AUTHOR) pzsm7wbp@cc.okayama-u.ac.jp, Aokage, Toshiyuki¹⁰ (AUTHOR) t_aokage@okayama-u.ac.jp, Hagiya, Hideharu³ (AUTHOR) hagiya@okayama-u.ac.jp, Toyooka, Shinichi¹¹ (AUTHOR) toyooka@md.okayama-u.ac.jp, Tsukahara, Hirokazu¹ (AUTHOR), Maeda, Yoshinobu¹² (AUTHOR) yosmaeda@md.okayama-u.ac.jp

Publikováno v: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8370. 14p.

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias.

Autor: Deleanu, Calin^1,2 (AUTHOR), Nicolescu, Alina^1,2 (AUTHOR) alina@icmpp.ro

Publikováno v: Biomolecules (2218-273X). May2024, Vol. 14 Issue 5, p528. 21p.

Malignancy in Noonan syndrome and related disorders.

Autor: Smpokou, P., Zand, D.J., Rosenbaum, K.N., Summar, M.L.

Publikováno v: Clinical Genetics; Dec2015, Vol. 88 Issue 6, p516-522, 7p, 1 Diagram, 2 Charts