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Search results 901 to 1000 out of 3442 for Hprt

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Publication  
First Author: Muiños-Bühl A
Year: 2023
Journal: Int J Mol Sci
Title: Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.
Volume: 24
Issue: 4
Publication
First Author: Tsai LK
Year: 2016
Journal: Hum Mol Genet
Title: Hypothermia improves disease manifestations in SMA mice via SMN augmentation.
Volume: 25
Issue: 4
Pages: 631-41
Publication
First Author: Lopez-Manzaneda M
Year: 2021
Journal: Hum Mol Genet
Title: Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice.
Volume: 30
Issue: 8
Pages: 629-643
Publication  
First Author: Winkelsas AM
Year: 2021
Journal: Mol Ther Nucleic Acids
Title: Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy.
Volume: 23
Pages: 731-742
Publication
First Author: Powis RA
Year: 2016
Journal: J Anat
Title: Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy.
Volume: 228
Issue: 3
Pages: 443-51
Publication
First Author: Gonçalves IDCG
Year: 2018
Journal: Sci Rep
Title: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Volume: 8
Issue: 1
Pages: 7907
Publication
First Author: Sintusek P
Year: 2016
Journal: PLoS One
Title: Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment.
Volume: 11
Issue: 5
Pages: e0155032
Publication
First Author: Custer SK
Year: 2016
Journal: PLoS One
Title: Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells.
Volume: 11
Issue: 10
Pages: e0163954
Publication
First Author: Sheng L
Year: 2020
Journal: Nucleic Acids Res
Title: Comparison of the efficacy of MOE and PMO modifications of systemic antisense oligonucleotides in a severe SMA mouse model.
Volume: 48
Issue: 6
Pages: 2853-2865
Publication
First Author: Gogliotti RG
Year: 2010
Journal: Biochem Biophys Res Commun
Title: Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy.
Volume: 391
Issue: 1
Pages: 517-22
Publication      
First Author: Kataoka M
Year: 2023
Journal: Neurosci Res
Title: Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.
Publication
First Author: Motyl AAL
Year: 2020
Journal: Hum Mol Genet
Title: Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy.
Volume: 29
Issue: 16
Pages: 2674-2683
Publication
First Author: Sun J
Year: 2022
Journal: PLoS Genet
Title: Single-cell RNA sequencing reveals dysregulation of spinal cord cell types in a severe spinal muscular atrophy mouse model.
Volume: 18
Issue: 9
Pages: e1010392
Publication
First Author: Bora G
Year: 2021
Journal: Hum Mol Genet
Title: Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy.
Volume: 29
Issue: 24
Pages: 3935-3944
Publication
First Author: Donadon I
Year: 2019
Journal: Nucleic Acids Res
Title: Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.
Volume: 47
Issue: 14
Pages: 7618-7632
Publication
First Author: Roos A
Year: 2024
Journal: Acta Neuropathol
Title: Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.
Volume: 147
Issue: 1
Pages: 53
Publication
First Author: Wang L
Year: 2023
Journal: Hum Mol Genet
Title: A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.
Volume: 32
Issue: 6
Pages: 971-983
Publication
First Author: Hensel N
Year: 2012
Journal: PLoS One
Title: Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy.
Volume: 7
Issue: 2
Pages: e31202
Publication
First Author: Schmitt LI
Year: 2023
Journal: Acta Neuropathol
Title: Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy.
Volume: 145
Issue: 5
Pages: 611-635
Publication
First Author: Chen YC
Year: 2015
Journal: PLoS One
Title: High expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice.
Volume: 10
Issue: 3
Pages: e0120721
Publication
First Author: Yang CW
Year: 2016
Journal: PLoS One
Title: An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy.
Volume: 11
Issue: 6
Pages: e0157426
Publication
First Author: Rademacher S
Year: 2017
Journal: Hum Mol Genet
Title: Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).
Volume: 26
Issue: 20
Pages: 3946-3959
Publication
First Author: Grondard C
Year: 2005
Journal: J Neurosci
Title: Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse.
Volume: 25
Issue: 33
Pages: 7615-22
Publication
First Author: Hua Y
Year: 2015
Journal: Genes Dev
Title: Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models.
Volume: 29
Issue: 3
Pages: 288-97
Publication
First Author: Boyd PJ
Year: 2017
Journal: PLoS Genet
Title: Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.
Volume: 13
Issue: 4
Pages: e1006744
Publication
First Author: Schreml J
Year: 2013
Journal: Eur J Hum Genet
Title: Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Volume: 21
Issue: 6
Pages: 643-52
Publication
First Author: Rigo F
Year: 2014
Journal: J Pharmacol Exp Ther
Title: Pharmacology of a central nervous system delivered 2'-O-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates.
Volume: 350
Issue: 1
Pages: 46-55
Publication  
First Author: Robin V
Year: 2017
Journal: Mol Ther Nucleic Acids
Title: Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment.
Volume: 7
Pages: 81-89
Publication
First Author: Biondi O
Year: 2008
Journal: J Neurosci
Title: Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse.
Volume: 28
Issue: 4
Pages: 953-62
Publication
First Author: Lin TL
Year: 2016
Journal: PLoS One
Title: Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides.
Volume: 11
Issue: 4
Pages: e0154723
Publication
First Author: Torres-Benito L
Year: 2019
Journal: Am J Hum Genet
Title: NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
Volume: 105
Issue: 1
Pages: 221-230
Publication
First Author: Hunter G
Year: 2016
Journal: Hum Mol Genet
Title: Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.
Volume: 25
Issue: 13
Pages: 2853-2861
Publication
First Author: Biondi O
Year: 2012
Journal: J Physiol
Title: Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice.
Volume: 590
Issue: 22
Pages: 5907-25
Publication  
First Author: Somers E
Year: 2013
Journal: Neurosci Lett
Title: Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy.
Volume: 544
Pages: 100-4
Publication  
First Author: Muinos-Bühl A
Year: 2022
Journal: Neurobiol Dis
Title: Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks.
Volume: 171
Pages: 105795
Publication
First Author: Bernabò P
Year: 2017
Journal: Cell Rep
Title: In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.
Volume: 21
Issue: 4
Pages: 953-965
Publication
First Author: Allardyce H
Year: 2020
Journal: Hum Mol Genet
Title: Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF).
Volume: 29
Issue: 14
Pages: 2365-2378
Publication  
First Author: Aslesh T
Year: 2023
Journal: JCI Insight
Title: DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration.
Volume: 8
Issue: 5
Publication
First Author: Šoltić D
Year: 2019
Journal: Hum Mol Genet
Title: Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.
Volume: 28
Issue: 21
Pages: 3515-3527
Publication  
First Author: Hensel N
Year: 2021
Journal: Proc Natl Acad Sci U S A
Title: Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy.
Volume: 118
Issue: 18
Publication
First Author: Shanmugarajan S
Year: 2009
Journal: J Pathol
Title: Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy.
Volume: 219
Issue: 1
Pages: 52-60
Publication
First Author: Fayzullina S
Year: 2014
Journal: PLoS One
Title: Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA).
Volume: 9
Issue: 3
Pages: e93329
Publication
First Author: Wen HL
Year: 2010
Journal: Hum Mol Genet
Title: Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy.
Volume: 19
Issue: 9
Pages: 1766-78
Publication
First Author: Sheng L
Year: 2018
Journal: Hum Mol Genet
Title: Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model.
Volume: 27
Issue: 3
Pages: 486-498
Publication
First Author: Wan B
Year: 2018
Journal: Hum Mol Genet
Title: A severe mouse model of spinal muscular atrophy develops early systemic inflammation.
Volume: 27
Issue: 23
Pages: 4061-4076
Publication
First Author: Sahashi K
Year: 2012
Journal: Genes Dev
Title: TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals.
Volume: 26
Issue: 16
Pages: 1874-84
Publication
First Author: Sapaly D
Year: 2018
Journal: Sci Rep
Title: Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy.
Volume: 8
Issue: 1
Pages: 2075
Publication
First Author: Hua Y
Year: 2011
Journal: Nature
Title: Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.
Volume: 478
Issue: 7367
Pages: 123-6
Publication
First Author: Tsai LK
Year: 2006
Journal: Neurobiol Dis
Title: Establishing a standardized therapeutic testing protocol for spinal muscular atrophy.
Volume: 24
Issue: 2
Pages: 286-95
Publication
First Author: Zhou H
Year: 2015
Journal: Hum Mol Genet
Title: Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response.
Volume: 24
Issue: 22
Pages: 6265-77
Publication
First Author: Sahashi K
Year: 2013
Journal: EMBO Mol Med
Title: Pathological impact of SMN2 mis-splicing in adult SMA mice.
Volume: 5
Issue: 10
Pages: 1586-601
Publication
First Author: Hensel N
Year: 2020
Journal: Hum Mol Genet
Title: Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.
Volume: 29
Issue: 16
Pages: 2662-2673
Publication
First Author: Tapken I
Year: 2024
Journal: Hum Mol Genet
Title: From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA).
Volume: 33
Issue: 15
Pages: 1367-1377
Publication  
First Author: Salman B
Year: 2024
Journal: Int J Mol Sci
Title: Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy.
Volume: 25
Issue: 18
Publication  
First Author: Custer SK
Year: 2014
Journal: Mol Cell Neurosci
Title: Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy.
Volume: 61
Pages: 133-40
Strain
Attribute String: congenic, mutant strain, targeted mutation
Allele
Name: tropomyosin 1, alpha; targeted mutation 1, David F Wieczorek
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: Bloom syndrome, RecQ like helicase; targeted mutation 1, Joanna Groden
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: glutamate-cysteine ligase, catalytic subunit; targeted mutation 1, Daniel W Nebert
Allele Type: Targeted
Attribute String: Null/knockout
Publication
First Author: Shekar PC
Year: 2006
Journal: Proc Natl Acad Sci U S A
Title: kappa-casein-deficient mice fail to lactate.
Volume: 103
Issue: 21
Pages: 8000-5
Allele
Name: matrix metallopeptidase 20 (enamelysin); targeted mutation 1, John D Bartlett
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: transformation related protein 53; targeted mutation 2, Allan Bradley
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Strain
Attribute String: congenic, mutant strain, targeted mutation
Publication
First Author: Kirby SL
Year: 1996
Journal: Proc Natl Acad Sci U S A
Title: Proliferation of multipotent hematopoietic cells controlled by a truncated erythropoietin receptor transgene.
Volume: 93
Issue: 18
Pages: 9402-7
Allele
Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 1, Curt Sigmund
Allele Type: Targeted
Attribute String: Humanized sequence, Inserted expressed sequence
Publication
First Author: Moseley AE
Year: 2004
Journal: J Mol Cell Cardiol
Title: Attenuation of cardiac contractility in Na,K-ATPase alpha1 isoform-deficient hearts under reduced calcium conditions.
Volume: 37
Issue: 5
Pages: 913-9
Publication
First Author: Zhang J
Year: 2022
Journal: iScience
Title: Na/K-ATPase suppresses LPS-induced pro-inflammatory signaling through Lyn.
Volume: 25
Issue: 9
Pages: 104963
Publication  
First Author: Cao L
Year: 2021
Journal: Sci Adv
Title: Anti-Na+/K+-ATPase immunotherapy ameliorates α-synuclein pathology through activation of Na+/K+-ATPase α1-dependent autophagy.
Volume: 7
Issue: 5
Publication
First Author: Kutz LC
Year: 2018
Journal: Am J Physiol Endocrinol Metab
Title: Isoform-specific role of Na/K-ATPase α1 in skeletal muscle.
Volume: 314
Issue: 6
Pages: E620-E629
Publication
First Author: Liu C
Year: 2012
Journal: J Biol Chem
Title: Reduction of Na/K-ATPase potentiates marinobufagenin-induced cardiac dysfunction and myocyte apoptosis.
Volume: 287
Issue: 20
Pages: 16390-8
Publication
First Author: Barcroft LC
Year: 2004
Journal: Mech Dev
Title: Deletion of the Na/K-ATPase alpha1-subunit gene (Atp1a1) does not prevent cavitation of the preimplantation mouse embryo.
Volume: 121
Issue: 5
Pages: 417-26
Publication
First Author: Drummond CA
Year: 2014
Journal: Am J Physiol Heart Circ Physiol
Title: Reduction of Na/K-ATPase affects cardiac remodeling and increases c-kit cell abundance in partial nephrectomized mice.
Volume: 306
Issue: 12
Pages: H1631-43
Publication
First Author: Moseley AE
Year: 2005
Journal: Cell Physiol Biochem
Title: Genetic profiling reveals global changes in multiple biological pathways in the hearts of Na, K-ATPase alpha 1 isoform haploinsufficient mice.
Volume: 15
Issue: 1-4
Pages: 145-58
Publication
First Author: Hou X
Year: 2009
Journal: Am J Physiol Regul Integr Comp Physiol
Title: Enhanced pressor response to increased CSF sodium concentration and to central ANG I in heterozygous alpha2 Na+ -K+ -ATPase knockout mice.
Volume: 296
Issue: 5
Pages: R1427-38
Publication
First Author: Hartford AK
Year: 2004
Journal: Glia
Title: Na,K-ATPase alpha 2 inhibition alters calcium responses in optic nerve astrocytes.
Volume: 45
Issue: 3
Pages: 229-37
Publication
First Author: Radzyukevich TL
Year: 2004
Journal: Am J Physiol Cell Physiol
Title: The Na(+)-K(+)-ATPase alpha2-subunit isoform modulates contractility in the perinatal mouse diaphragm.
Volume: 287
Issue: 5
Pages: C1300-10
Publication
First Author: Moseley AE
Year: 2003
Journal: J Biol Chem
Title: The Na,K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice.
Volume: 278
Issue: 7
Pages: 5317-24
Publication
First Author: Lynch RM
Year: 2008
Journal: Am J Physiol Heart Circ Physiol
Title: Clearance of store-released Ca2+ by the Na+-Ca2+ exchanger is diminished in aortic smooth muscle from Na+-K+-ATPase alpha 2-isoform gene-ablated mice.
Volume: 294
Issue: 3
Pages: H1407-16
Allele
Name: breast cancer 2, early onset; targeted mutation 1, Paul Hasty
Allele Type: Targeted
Attribute String: Hypomorph
Strain
Attribute String: congenic, mutant strain, targeted mutation
Allele
Name: gap junction protein, gamma 2; targeted mutation 1, Klaus Willecke
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Strain
Attribute String: targeted mutation, mutant stock
Publication
First Author: Wang W
Year: 2016
Journal: J Cell Biol
Title: DSCR1 is required for both axonal growth cone extension and steering.
Volume: 213
Issue: 4
Pages: 451-62
Publication
First Author: Mann EA
Year: 1997
Journal: Biochem Biophys Res Commun
Title: Mice lacking the guanylyl cyclase C receptor are resistant to STa-induced intestinal secretion.
Volume: 239
Issue: 2
Pages: 463-6
Publication
First Author: Charney AN
Year: 2001
Journal: Am J Physiol Gastrointest Liver Physiol
Title: Effect of E. coli heat-stable enterotoxin on colonic transport in guanylyl cyclase C receptor-deficient mice.
Volume: 280
Issue: 2
Pages: G216-21
Publication
First Author: Amarachintha S
Year: 2018
Journal: Sci Rep
Title: Guanylate cyclase C reduces invasion of intestinal epithelial cells by bacterial pathogens.
Volume: 8
Issue: 1
Pages: 1521
Publication
First Author: Rao SP
Year: 2004
Journal: Am J Physiol Gastrointest Liver Physiol
Title: A role for guanylate cyclase C in acid-stimulated duodenal mucosal bicarbonate secretion.
Volume: 286
Issue: 1
Pages: G95-G101
Publication
First Author: Habek N
Year: 2020
Journal: Pflugers Arch
Title: Activation of brown adipose tissue in diet-induced thermogenesis is GC-C dependent.
Volume: 472
Issue: 3
Pages: 405-417
Publication
First Author: Mann EA
Year: 2019
Journal: Genes Brain Behav
Title: Mouse knockout of guanylyl cyclase C: Recognition memory deficits in the absence of activity changes.
Volume: 18
Issue: 5
Pages: e12573
Allele
Name: acetyl-Coenzyme A carboxylase beta; targeted mutation 1, Salih J Wakil
Allele Type: Targeted
Attribute String: Null/knockout
Publication
First Author: Choi CS
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Continuous fat oxidation in acetyl-CoA carboxylase 2 knockout mice increases total energy expenditure, reduces fat mass, and improves insulin sensitivity.
Volume: 104
Issue: 42
Pages: 16480-5
Allele
Name: hyaluronan mediated motility receptor (RHAMM); targeted mutation 1, Benjamin A Alman
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: suppression of tumorigenicity 14 (colon carcinoma); targeted mutation 1, Thomas H Bugge
Allele Type: Targeted
Attribute String: Null/knockout
Publication  
First Author: Joshi SS
Year: 2018
Journal: Gene Expr Patterns
Title: Characterization of a new, inducible transgenic mouse model with GFP expression in melanocytes and their precursors.
Volume: 27
Pages: 76-84
Publication
First Author: Gross AK
Year: 2006
Journal: Vision Res
Title: Defective development of photoreceptor membranes in a mouse model of recessive retinal degeneration.
Volume: 46
Issue: 27
Pages: 4510-8
Publication
First Author: Mansergh FC
Year: 2010
Journal: Exp Eye Res
Title: Loss of photoreceptor potential from retinal progenitor cell cultures, despite improvements in survival.
Volume: 91
Issue: 4
Pages: 500-12
Publication
First Author: Wahlin KJ
Year: 2013
Journal: PLoS One
Title: Epigenetics and cell death: DNA hypermethylation in programmed retinal cell death.
Volume: 8
Issue: 11
Pages: e79140
Allele
Name: rhodopsin; targeted mutation 3, John H Wilson
Allele Type: Targeted
Attribute String: Conditional ready, Inserted expressed sequence, Null/knockout, Reporter
Strain
Attribute String: coisogenic, mutant strain, targeted mutation
Publication
First Author: Asahi M
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: Cardiac-specific overexpression of sarcolipin inhibits sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA2a) activity and impairs cardiac function in mice.
Volume: 101
Issue: 25
Pages: 9199-204