Results 241 to 250 of about 1,412,344 (374)

Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice

, 1997
Ryoko Araki, Akira Fujimori, Kiyohiro Hamatani, Kazuei Mita, Toshiyuki Saito, Masahiko Mori, Ryutaro Fukumura, Mitsuoki Morimyo, Masahiro Muto, Masahiro Itoh, Kouichi Tatsumi, Masumi Abe   +11 more
openalex   +1 more source

A Novel Homozygous Nonsense Mutation E135X in the Type II 3β-Hydroxysteroid Dehydrogenase Gene (3β-Hsd) of A Female Child With Salt-Losing Congenital Adrenal Hyperplasia (Cah). 32 [PDF]

, 1998
Suemi Marui, I Torrealba, Alan J. Russell, Ana Cláudia Latronico, R. Sutcliffe, Berenice B. Mendonça   +5 more
openalex   +1 more source

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

European Journal of Human Genetics, 2014
C. Z. Seco, Anne M. M. Oonk, María Domínguez-Ruiz, J. Draaisma, Marta Gandía, J. Oostrik, K. Neveling, H. Kunst, L. Hoefsloot, I. Castillo, R. Pennings, H. Kremer, R. Admiraal, M. Schraders   +13 more
semanticscholar   +1 more source

Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucy Dougherty‐de Miguel, Julia Ferrero‐Turrión, Anna Marcé‐Grau, Marta Folch‐Benito, Álvaro Lucero‐Garófano, Alfons Macaya, Antonio Moreno‐Galdó, Maria I. Vanegas, Marta Correa‐Vela, María Victoria González, Gemma Español‐Martín, Martha Loredo, Ignacio Delgado, Esther Toro‐Tamargo, Margarita Figueroa, Dolores Vilas, Manel Tardáguila, Jorge Muñoz, Lourdes Ispierto, Ramiro Álvarez, Agustí Bescós, Belén Pérez‐Dueñas   +23 more
wiley   +1 more source

Combinatorial biosynthesis of novel gentamicin derivatives with nonsense mutation readthrough activity and low cytotoxicity. [PDF]

Front Pharmacol
Yang L, Zhai H, Tian T, Liu B, Ni X, Xia H.   +5 more
europepmc   +1 more source

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation. [PDF]

Front Oncol, 2023
Liu Z, Guo K, Hu X, Zhang X.
europepmc   +1 more source

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. SHORT REPORT [PDF]

, 2000
Pilar Casaña, Francisco Martı́nez, Saturnino Haya, José Ignacio Leal Lorenzo, Carmen Espinós, José A. Aznar   +5 more
openalex   +1 more source

Factor XIII Deficiency with a Novel Nonsense Mutation

Indian Journal of Hematology and Blood Transfusion, 2020
Rachna Sharma, Divya Doval, Vedam L Ramprasad, Meet Kumar, Sanjeev Sharma, Dharma Choudhary, Vipin Khandelwal   +6 more
openaire   +3 more sources

Neuroprotective Efficacy of Microwave‐Assisted Synthetized 2‐(5‐Cyclopropyl‐6‐Thioxo‐1,3,5‐Thiadiazinan‐3‐Yl) Acetic Acid in Mitigating Cognitive Deficits in Pentylenetetrazole‐Induced Mice Model

ChemistryOpen, EarlyView.
Microwave synthesis yielded 2‐(5‐cyclopropyl‐6‐thioxo‐1,3,5‐thiadiazinan‐3‐yl)acetic acid, confirmed by infrared, nuclear magnetic resonance, and electron ionization mass spectrometry. In a pentylenetetrazole‐induced epilepsy model, it countered oxidative stress by boosting antioxidant enzymes (catalase, peroxidase, superoxide dismutase, glutathione ...
Tahir Iqbal, Murad A. Mubaraki, Ahmad Khushal, Amena Arif, Fozia Fozia, Shahid Ali Shah, Ijaz Ahmad, Rasool Khan, Najeeb Ur Rehman, Ziaullah Ziaullah   +9 more
wiley   +1 more source

Case Report: A <i>FBN1</i> frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome. [PDF]

Front Cardiovasc Med
Su C, Zeng L, Lu H, Wang Z, Wei M.
europepmc   +1 more source