Results 171 to 180 of about 1,102,715 (317)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Amino acid sequence encodes protein abundance shaped by protein stability at reduced synthesis cost. [PDF]

Protein Sci
Buric F, Viknander S, Fu X, Lemke O, Carmona OG, Zrimec J, Szyrwiel L, Mülleder M, Ralser M, Zelezniak A.   +9 more
europepmc   +1 more source

Amino acid sequence homology between thyroid autoantigens and central nervous system proteins: Implications for the steroid-responsive encephalopathy associated with autoimmune thyroiditis. [PDF]

J Clin Transl Endocrinol, 2021
Benvenga S, Antonelli A, Fallahi P, Bonanno C, Rodolico C, Guarneri F.   +5 more
europepmc   +1 more source

Synthesis of Peptides Related to Corticotropin (ACTH). VI Syntheses and Biological Activity of the Peptides Corresponding to the Amino Acid Sequences 4-23, 5-23, 6-24 and 7-23 in ACTH

, 1971
Masahiko Fujino, Chitoshi Hatanaka, Osamu Nishimura   +2 more
openalex   +2 more sources

Mutations of hepatitis C virus 1b NS5A 2209-2248 amino acid sequence is not a edictive factor for response to interferon-alpha therapy and development of patocellular carcinoma [PDF]

, 2000
Si Hyun Bae, Young Min Park, Duck Gi Yoo, Jong Young Choi, Byung Hun Byun, Jin Mo Yang, Chang Don Lee, Sang Bok, Doo Ho Park, Boo Sung Kim   +9 more
openalex   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Variations in candidalysin amino acid sequence influence toxicity and host responses. [PDF]

mBio
Wickramasinghe DN, Lyon CM, Lee S, Hepworth OW, Priest EL, Maufrais C, Ryan AP, Permal E, Sullivan D, McManus BA, Hube B, Butler G, d'Enfert C, Naglik JR, Richardson JP.   +14 more
europepmc   +1 more source

Effect of Genomic and Amino Acid Sequence Mutation on Virulence and Therapeutic Target of Severe Acute Respiratory Syndrome Coronavirus-2 (SARS COV-2). [PDF]

Infect Drug Resist, 2021
Kelta Wabalo E, Dukessa Dubiwak A, Welde Senbetu M, Sime Gizaw T.   +3 more
europepmc   +1 more source

Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors.

, 1988
Cheng-Shyong Chang, John M. Kokontis, Shutsung Liao   +2 more
openalex   +2 more sources

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source