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Abbreviation : PSEN1
Long Form : presenilin 1
No. Year Title Co-occurring Abbreviation
2019 A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Abeta42/Abeta40 ratio. AD, PSEN1 M139V
2019 Alterations in the Expression of Amyloid Precursor Protein Cleaving Enzymes mRNA in Alzheimer Peripheral Blood. AD, ADAM10, APP, BACE1, SIRT, TMSE
2019 Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. AD, APP, PSEN2
2019 Alzheimer's Amyloidopathy: An Alternative Aspect. AD, APP
2019 Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages. HS, NCSTN, TM
2019 Asymptomatic Carriers of Presenilin-1 E318G Variant Show no Cerebrospinal Fluid Biochemical Signs Suggestive of Alzheimer's disease in a Family with Late-onset Dementia. AbetaPP, AD, CSF, p-tau, t-tau
2019 Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. AD, EOfAD, GO
2019 Computing the Pathogenicity of Alzheimer's Disease Presenilin 1 Mutations. AD, FAD
2019 Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta. APP, FAD, iPSC
10  2019 Gene mutations in a Han Chinese Alzheimer's disease cohort. AD, APP, EOAD, LOAD, MAPT, PSEN2, TBK1
11  2019 Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene. iPSC
12  2019 Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene. FAD
13  2019 Genetic influences on white matter and metabolism abnormal change in Alzheimer's disease: Meta-analysis for neuroimaging research on presenilin 1 mutation. AD, DTI, FAD, MD, SMD
14  2019 Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations. APP, EOAD, PSEN2
15  2019 iPSCs-derived nerve-like cells from familial Alzheimer's disease PSEN 1 E280A reveal increased amyloid-beta levels and loss of the Y chromosome. AD, iPSCs, LOY, NPCs
16  2019 MicroRNA-133a inhibits gastric cancer cells growth, migration, and epithelial-mesenchymal transition process by targeting presenilin 1. EMT, GC, miR, TGF-beta1
17  2019 Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease. APP, FAD, PSEN2
18  2019 Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing. APP, FAD, PSEN2
19  2019 Understanding the Amyloid Hypothesis in Alzheimer's Disease. AH, AP, APOE, APP, IAD, PSEN2
20  2018 A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease. APP, EOAD, NGS, PSEN2
21  2018 A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling. FAD
22  2018 A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1. FAD, PSEN2
23  2018 A Three-Factor Structure of Cognitive Functioning Among Unimpaired Carriers and Non-Carriers of Autosomal-Dominant Alzheimer's Disease. AD
24  2018 Association Between Amyloid and Tau Accumulation in Young Adults With Autosomal Dominant Alzheimer Disease. AD, PET
25  2018 Beta-secretase/BACE1 promotes APP endocytosis and processing in the endosomes and on cell membrane. AD, APP, BACE1
26  2018 Cardiac adenovirus-associated viral Presenilin 1 gene delivery protects the left ventricular function of the heart via regulating RyR2 function in post-ischaemic heart failure. AAV, SR
27  2018 Chronic oral application of a periodontal pathogen results in brain inflammation, neurodegeneration and amyloid beta production in wild type mice. Abeta42, AD, ADAM10, APP, BACE1, CI, IF, NFTs, Pg, qPCR
28  2018 Complexity and Selectivity of gamma-Secretase Cleavage on Multiple Substrates: Consequences in Alzheimer's Disease and Cancer. AbetaPP, AD, GS
29  2018 Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation. AD
30  2018 Discovery and validation of autosomal dominant Alzheimer's disease mutations. AD, ADAD, APP, PSEN2
31  2018 Epileptic seizures in autosomal dominant forms of Alzheimer's disease. AD, APP, EOFAD, PSEN2
32  2018 Genome-editing applications of CRISPR-Cas9 to promote in vitro studies of Alzheimer's disease. AD, APP, CRISPR-Cas9, PSEN2
33  2018 Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. APP, DIAN, iPSC, PSEN2
34  2018 Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID. BE, sgRNAs
35  2018 iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia. AD, iPSC
36  2018 Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism. ---
37  2018 Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1. AD
38  2018 PICALM Gene Methylation in Blood of Alzheimer's Disease Patients Is Associated with Cognitive Decline. AD, APOE, CR1, HS, MMSE
39  2018 Presenilin 1 Regulates NF-kappaB Activation via Association with Breakpoint Cluster Region and Casein Kinase II. bcr
40  2018 Presenilin1 regulates Th1 and Th17 effector responses but is not required for experimental autoimmune encephalomyelitis. CNS, EAE, MS
41  2018 Protein levels of ADAM10, BACE1, and PSEN1 in platelets and leukocytes of Alzheimer's disease patients. AD, ADAM10, APP, BACE1, ROC
42  2018 PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. WES
43  2018 Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer's disease: a longitudinal study. 11C-PiB, 18F-FDG, APP, PSEN2
44  2017 A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-beta Production and Tau Phosphorylation. AbetaPP, AD, HEK293-APP695wt
45  2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. AOO, APP, CSF, EOAD, PSEN2, pTau, Tau
46  2017 Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births. APOE
47  2017 Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds. CNVs, EOAD
48  2017 Establishment of induced pluripotent stem cell line (ZZUi010-A) from an Alzheimer's disease patient carrying an APP gene mutation. AD, APP, iPSCs, PSEN2, SeV
49  2017 Genome instability in Alzheimer disease. AD, APP, FAD, PSEN2, SAD
50  2017 Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene. AD, APP, EOAD, EU EOD, PSEN2, SORL1
51  2017 Mitochondrion to endoplasmic reticulum apposition length in zebrafish embryo spinal progenitors is unchanged in response to perturbations associated with Alzheimer's disease. AD, hpf, M-ER, MOs, PSEN2
52  2017 Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer's Disease Detected Using Quantitative Electroencephalography. AD, EEG, ICA
53  2017 Thymoquinone-rich fraction nanoemulsion (TQRFNE) decreases Abeta40 and Abeta42 levels by modulating APP processing, up-regulating IDE and LRP1, and down-regulating BACE1 and RAGE in response to high fat/cholesterol diet-induced rats. AD, APP, BACE1, HFCD, IDE, LRP1, NE, PSEN2, RAGE, TQ, TQNE, TQRFNE
54  2017 Unraveling the genes implicated in Alzheimer's disease. AD, LOAD
55  2016 A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences. AOO, APP, FAD
56  2016 Anabolic actions of Notch on mature bone. ---
57  2016 Angela R.: a familial Alzheimer's disease case in the days of Auguste D. AD
58  2016 APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease. AD, APOE, CI
59  2016 Can Peripheral MicroRNA Expression Data Serve as Epigenomic (Upstream) Biomarkers of Alzheimer's Disease? AD, BACE1, miRNAs, PSEN2
60  2016 Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. AD, hiPSCs
61  2016 Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease. ---
62  2016 Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T). EOFAD
63  2016 Evidence For and Against a Pathogenic Role of Reduced gamma-Secretase Activity in Familial Alzheimer's Disease. FAD, PSEN, PSEN2
64  2016 Fibroblast growth factor rescues brain endothelial cells lacking presenilin 1 from apoptotic cell death following serum starvation. VEGF, WT
65  2016 Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1. AD, hiPSCs
66  2016 Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1. AD, iPSCs
67  2016 High-Sodium Diet Has Opposing Effects onMean Arterial Blood Pressure andCerebral Perfusion in a Transgenic Mouse Model of Alzheimer's Disease. AD, CBF, MAP
68  2016 Loss of Abeta43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. FAD, KI
69  2016 Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease. ---
70  2016 Molecular Basis of Familial and Sporadic Alzheimer's Disease. AD, APP, PSEN2, SAD
71  2016 Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. AD, EOAD, LOAD
72  2016 Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study. AD, ADAD, LOAD
73  2016 Presenilin E318G variant and Alzheimer's disease risk: the Cache County study. ---
74  2016 Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype. ---
75  2016 Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes. AD, APP, FAD, iPSCs
76  2016 The dynamic mechanism of presenilin-1 function: Sensitive gate dynamics and loop unplugging control protein access. ---
77  2016 Widespread white matter and conduction defects in PSEN1-related spastic paraparesis. SP
78  2016 [Mutation analysis of presenilin 1 gene in a Chinese family affected with early-onset familial Alzheimer's disease]. APOE, APP, EOFAD, PCR
79  2015 Alterations in mitochondrial number and function in Alzheimer's disease fibroblasts. ---
80  2015 Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review. AD, VAD
81  2015 Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study. AD, CSF
82  2015 Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD. AD, ADAD, APP, CSF, LOAD, PSEN2
83  2015 Biomarkers of Alzheimer disease, insulin resistance, and obesity in childhood. Abeta42, AD, HOMA-beta, HOMA-IR, IR, QUICKI
84  2015 Brain Imaging and Blood Biomarker Abnormalities in Children With Autosomal Dominant Alzheimer Disease: A Cross-Sectional Study. ADAD, MRI
85  2015 Hippo pathway gene mutations in malignant mesothelioma: revealed by RNA and targeted exon sequencing. LATS1, MM, NF2
86  2015 Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease. EOFAD
87  2015 Laminar distribution of beta-amyloid (Abeta) peptide deposits in the frontal lobe in familial and sporadic Alzheimer's disease. AD, APOE, APP, EO-FAD, LO-FAD, SAD
88  2015 Low brain ascorbic acid increases susceptibility to seizures in mouse models of decreased brain ascorbic acid transport and Alzheimer's disease. APP, SVCT2
89  2015 Maternal gestational betaine supplementation-mediated suppression of hepatic cyclin D2 and presenilin1 gene in newborn piglets is associated with epigenetic regulation of the STAT3-dependent pathway. CCND2, EZH2
90  2015 Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders. AD, PSEN2
91  2015 Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease. AD
92  2015 Ovarian steroids regulate gene expression related to DNA repair and neurodegenerative diseases in serotonin neurons of macaques. ANOVA, GTF2H5, HSP70, qRT-PCR
93  2015 Peripheral leukocyte expression of the potential biomarker proteins Bdnf, Sirt1, and Psen1 is not regulated by promoter methylation in Alzheimer's disease patients. AD, SIRT1
94  2015 Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin. Co-IP
95  2015 Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. FAD, KI
96  2015 Quantitative interaction proteomics of neurodegenerative disease proteins. AD, APP, ATXN1, htt, NDDs
97  2015 Spontaneous ARIA (amyloid-related imaging abnormalities) and cerebral amyloid angiopathy related inflammation in presenilin 1-associated familial Alzheimer's disease. AD, ARIA, FAD
98  2015 Successful Scene Encoding in Presymptomatic Early-Onset Alzheimer's Disease. AD
99  2015 The invasive phenotype of placenta accreta extravillous trophoblasts associates with loss of E-cadherin. E-cad, EMT, EVT
100  2015 The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population. APOE, KLC1