Electrophysiologic and molecular mechanisms of a frameshift NPPA mutation linked with familial atrial fibrillation.
Menon A, Hong L, Savio-Galimberti E, Sridhar A, Youn SW, Zhang M, Kor K, Blair M, Kupershmidt S, Darbar D
(2019) J Mol Cell Cardiol 132
: 24-35MeSH Terms: Action Potentials, Animals, Atrial Fibrillation, Atrial Natriuretic Factor, Electrophysiological Phenomena, Frameshift Mutation, Heart Atria, Humans, Membrane Potentials, Mice, Mice, Transgenic, Myocytes, Cardiac, NAV1.5 Voltage-Gated Sodium ChannelAdded June 14, 2019
13 MeSH Terms
A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.
Copeland CA, Han B, Tiwari A, Austin ED, Loyd JE, West JD, Kenworthy AK
(2017) Mol Biol Cell 28
: 3095-3111MeSH Terms: Caveolae, Caveolin 1, Endocytosis, Endoplasmic Reticulum, Fibroblasts, Frameshift Mutation, Humans, Hypertension, Pulmonary, Mutation, Protein TransportAdded April 2, 2019
Heterozygous null bone morphogenetic protein receptor type 2 mutations promote SRC kinase-dependent caveolar trafficking defects and endothelial dysfunction in pulmonary arterial hypertension.
Prewitt AR, Ghose S, Frump AL, Datta A, Austin ED, Kenworthy AK, de Caestecker MP
(2015) J Biol Chem 290
: 960-71MeSH Terms: Animals, Bone Morphogenetic Protein 2, Bone Morphogenetic Protein Receptors, Type II, Caveolae, Caveolin 1, Endocytosis, Endothelial Cells, Familial Primary Pulmonary Hypertension, Frameshift Mutation, Heterozygote, Humans, Lung, Mice, Protein Transport, Pyrimidines, src-Family KinasesAdded January 6, 2015
16 MeSH Terms
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL, Kang JQ
(2012) Epilepsia 53 Suppl 9
: 59-70MeSH Terms: Animals, Channelopathies, Codon, Nonsense, Endoplasmic Reticulum, Epilepsy, Epilepsy, Generalized, Frameshift Mutation, Humans, Ion Channels, Mutation, Proteostasis Deficiencies, RNA Splicing, RNA, Messenger, Receptors, GABA-AAdded January 24, 2015
14 MeSH Terms
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
Tian M, Mei D, Freri E, Hernandez CC, Granata T, Shen W, Macdonald RL, Guerrini R
(2013) Neurobiol Dis 50
: 135-41MeSH Terms: Adult, Aged, Amino Acid Sequence, Child, Child, Preschool, Electroencephalography, Epilepsies, Myoclonic, Female, Flow Cytometry, Frameshift Mutation, Genotype, Humans, Immunoblotting, Immunohistochemistry, Male, Microscopy, Confocal, Middle Aged, Molecular Sequence Data, Patch-Clamp Techniques, Pedigree, Phenotype, Receptors, GABA-AAdded January 24, 2015
22 MeSH Terms
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK
(2012) Circ Cardiovasc Genet 5
: 336-43MeSH Terms: Adult, Aged, Amino Acid Sequence, Base Sequence, Caveolin 1, Cells, Cultured, Child, Child, Preschool, Female, Frameshift Mutation, Humans, Hypertension, Pulmonary, Immunohistochemistry, Infant, Lung, Male, Molecular Sequence Data, Pedigree, Sequence Analysis, DNA, SkinAdded December 5, 2013
20 MeSH Terms
Mutations in GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL, Kang JQ, Gallagher MJ
(2010) J Physiol 588
: 1861-9MeSH Terms: Animals, Epilepsy, Frameshift Mutation, Humans, Mutation, Mutation, Missense, Receptors, GABA-AAdded January 24, 2015
7 MeSH Terms
Frameshift deletion by Sulfolobus solfataricus P2 DNA polymerase Dpo4 T239W is selective for purines and involves normal conformational change followed by slow phosphodiester bond formation.
Zhang H, Beckman JW, Guengerich FP
(2009) J Biol Chem 284
: 35144-53MeSH Terms: Archaeal Proteins, DNA Polymerase beta, DNA, Archaeal, Frameshift Mutation, Humans, Hydrogen Bonding, Molecular Structure, Nucleic Acid Conformation, Purines, Sulfolobus solfataricusAdded March 26, 2014
10 MeSH Terms
Genetics and genomics of pulmonary arterial hypertension.
Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA, Soubrier F, Trembath RC, Chung WK
(2009) J Am Coll Cardiol 54
: S32-S42MeSH Terms: Bone Morphogenetic Protein Receptors, Type II, Frameshift Mutation, Genetic Counseling, Genetic Predisposition to Disease, Humans, Hypertension, Pulmonary, Mutation, Missense, Open Reading Frames, Signal Transduction, Transforming Growth Factor betaAdded March 5, 2014
10 MeSH Terms
Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2.
Chung WK, Shin M, Jaramillo TC, Leibel RL, LeDuc CA, Fischer SG, Tzilianos E, Gheith AA, Lewis AS, Chetkovich DM
(2009) Neurobiol Dis 33
: 499-508MeSH Terms: Amino Acid Sequence, Animals, Ataxia, Base Sequence, Body Size, Brain, COS Cells, Chlorocebus aethiops, Convulsants, Cyclic Nucleotide-Gated Cation Channels, Epilepsy, Absence, Female, Frameshift Mutation, Gait, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Ion Channels, Male, Mice, Mice, Mutant Strains, Molecular Sequence Data, Phenotype, Potassium Channels, RNA, Messenger, SeizuresAdded April 2, 2019
24 MeSH Terms