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1 l endothelial etiology for this common human disease phenotype.
2 ecipient and concomitant transmission of the disease phenotype.
3 nuated but still beneficial in improving the disease phenotype.
4 or in driving the aggregate conformation and disease phenotype.
5 gs did not correlate with improvement of the disease phenotype.
6 in PASMCs, but did not recapitulate the PAEC disease phenotype.
7 al manifestations, which determine patients' disease phenotype.
8 icted to be damaging and segregates with the disease phenotype.
9 ly distributed in a manner that supports the disease phenotype.
10 ory mechanisms contribute to the transferred disease phenotype.
11 riants have not been implicated in any human disease phenotype.
12 neurons, do not display a neurodegenerative disease phenotype.
13 the aggregated prion protein properties and disease phenotype.
14 les for misexpression of Igf2 and H19 in the disease phenotype.
15 e contribution of various immune axes to the disease phenotype.
16 ith defective DNA replication underlying the disease phenotype.
17 ategy involving small molecule modulation of disease phenotype.
18 e, and function and contribute to an altered disease phenotype.
19 e common occurrence signaled the Alzheimer's disease phenotype.
20 thms, which assume frequent alterations in a disease phenotype.
21 ng, which is potentially linked to the adult disease phenotype.
22 frequently associated with a severe Crohn's disease phenotype.
23 mpaired to a degree that correlates with the disease phenotype.
24 able degree of specificity in terms of human disease phenotype.
25 , modifiable exposures, and manifestation of disease phenotype.
26 c data and explore their associations with a disease phenotype.
27 genes having no currently established human disease phenotype.
28 geted therapy to precisely correct a complex disease phenotype.
29 s as a potential novel target to reverse the disease phenotype.
30 ion, the force-time integral, which predicts disease phenotype.
31 leles recapitulates the stochastic bi-stable disease phenotype.
32 sulting in anomalous autophagic activity and disease phenotype.
33 es in a gene's dosage and changes in a given disease phenotype.
34 ight PTMs as a major force driving the prion disease phenotype.
35 y corrects pre-mRNA splicing to abrogate the disease phenotype.
36 skeletal muscle, but did not ameliorate the disease phenotype.
37 ) with a unique sialoglycoform signature and disease phenotype.
38 ucture, posttranslational modifications, and disease phenotype.
39 a mesenchymal cell hub coordinating the LAM disease phenotype.
40 tic deletion of Syk completely abrogates the disease phenotype.
41 eding further exacerbates the K2KO metabolic disease phenotype.
42 r all three variants recapitulated the human disease phenotype.
43 and exploits a measure of similarity between disease phenotypes.
44 , DNAs, or lipids and consequently influence disease phenotypes.
45 be efficacious for multiple atherosclerotic disease phenotypes.
46 s, by studying co-segregation of variant and disease phenotypes.
47 proteomics to identify candidate drivers of disease phenotypes.
48 silencers are significantly associated with disease phenotypes.
49 odifier genes could be beneficial to improve disease phenotypes.
50 ns into adulthood and how they may influence disease phenotypes.
51 nd potentially rescue genetically determined disease phenotypes.
52 der range of cross-sectional diabetic kidney disease phenotypes.
53 sity and are associated with highly variable disease phenotypes.
54 protein products, thus potentially inducing disease phenotypes.
55 te into a model explaining the various human disease phenotypes.
56 to the large variability in PRPH2-associated disease phenotypes.
57 exin 9 (PCSK9) gene that was associated with disease phenotypes.
58 elective recruitment dictate strain-specific disease phenotypes.
59 sequences from individuals with healthy and disease phenotypes.
60 eta (Abeta) sequence lead to a wide range of disease phenotypes.
61 that directly or indirectly lead to distinct disease phenotypes.
62 ELS when applied after the manifestation of disease phenotypes.
63 tified thousands of variants associated with disease phenotypes.
64 d to new locales, and the discovery of novel disease phenotypes.
65 ividual human genomes and has been linked to disease phenotypes.
66 nk between genes, non-coding transcripts and disease phenotypes.
67 ms of host-microbial interactions underlying disease phenotypes.
68 ion flow profiles, which drive the resulting disease phenotypes.
69 cted to influence the severity of the ocular disease phenotypes.
70 linked altered profiles of methyl marks with disease phenotypes.
71 orphic amyloids that exhibit strain-specific disease phenotypes.
72 Asthma is a complex syndrome with different disease phenotypes.
73 ectin are responsible for aspects of CADASIL disease phenotypes.
74 iency and Slurp1 deficiencies cause the same disease phenotypes.
75 ations may cause a spectrum of mitochondrial disease phenotypes.
76 the folding reaction helps to explain their disease phenotypes.
77 belong to the same pathway and cause similar disease phenotypes.
78 al properties that could contribute to their disease phenotypes.
79 hodologies designed for Bayesian recovery of disease phenotypes.
80 rug combinations that modulate complex human disease phenotypes.
81 for cellular functions and associations with disease phenotypes.
82 on gene-environment interactions that enable disease phenotypes.
83 for lipid-modifying drugs with small vessel disease phenotypes.
84 genetic landscapes can shape physiologic and disease phenotypes.
85 ework for the design of strategies to revert disease phenotypes.
86 ip ratio (WHR), and multiple cerebrovascular disease phenotypes.
87 errant expression of which can contribute to disease phenotypes.
88 ukemia, indicates improvement in Alzheimer's disease phenotypes.
89 s responsible for both molecular and complex disease phenotypes.
90 the function of noncoding RNAs in mediating disease phenotypes.
91 are frequently sites of mutations leading to disease phenotypes.
92 on-developmental functions may contribute to disease phenotypes.
93 nd/or intellectual disability (DD and/or ID) disease phenotypes.
94 of cell types that can differentially impact disease phenotypes.
95 thousands of significant genetic effects on disease phenotypes.
96 ternative splicing is a major contributor to disease phenotypes.
97 y to neural cells could instead underlie the diseased phenotype.
98 cular symptoms in the expression of allergic diseases phenotypes.
99 To investigate the role of BH4 deficiency in disease phenotypes, 12-month-old Fabry mice were treated
101 Their potentially wide-ranging influence on disease phenotype also suggests that proteopathic strain
103 imaging, and inform stage categorization and disease phenotyping among hospitalized COVID-19 patients
104 B in kidneys of these mice fully rescued the disease phenotype and associated lethality, and normaliz
106 hiPSCs cardiomyocytes to recapitulate CPVT2 disease phenotype and drug response in the culture dish,
107 The observed mutations segregated with the disease phenotype and exhibited variable expressivity.
109 mut virus likely accounts for the attenuated disease phenotype and may represent a host-virus adaptat
112 NF-kappaB subunit RelA, segregated with the disease phenotype and resulted in RelA haploinsufficienc
113 on may be useful to inform our assessment of disease phenotype and to monitor disease longitudinally.
116 our current understanding of ARS-associated disease phenotypes and discuss potential explanations fo
117 udy documents a variability in prevalence of disease phenotypes and disparities in therapeutic choice
118 ein states or strains give rise to different disease phenotypes and display strain-specific subsets o
119 l studies that improve the classification of disease phenotypes and enable early identification of at
120 hange enables parasites to rapidly transform disease phenotypes and exploit new host populations.
122 tic structural mechanism for these differing disease phenotypes and for XPG's role in multiple DDRs,
124 m as a new "model organism" to study complex disease phenotypes and genetic variability among individ
125 h olivocerebellar dysfunction promotes motor disease phenotypes and identify the cerebellar nuclei as
127 ELP1 splicing defect can rescue devastating disease phenotypes and is therefore a viable therapeutic
128 ugh genetic association studies with cardiac disease phenotypes and Mendelian randomization, we find
129 articular in relation to mitophagy dependent disease phenotypes and provide avenues for alternative t
131 nsin alpha 1-3) showed association with both disease phenotypes and were associated with periodontiti
132 he sputum microbiome has a potential role in disease phenotyping and risk stratification in chronic o
134 in expression, differential gene expression, disease phenotype), and molecular data types (e.g. Gene
135 patient hiPSC-derived ROs recapitulate LCA4 disease phenotype, and (ii) generate a clinically releva
137 lly cross two lethal parasites with distinct disease phenotypes, and identify 43 genetically diverse
139 on of RNA molecules is often associated with disease phenotypes, and RNA molecules have been increasi
140 disease stage, even before the appearance of disease phenotypes, and worsened with disease progressio
141 ion with genome-wide association study-based disease phenotyping, and genetic lineage reconstruction
142 how -omics can advance our understanding of disease phenotypes; and describe how molecular imaging c
143 in recent years using systems approaches for disease phenotyping, applied to data ranging from the mo
147 different organ systems, whereas overlapping disease phenotypes are more likely to be caused by two g
148 nses and develop autoimmune pathology, these disease phenotypes are not driven by miR-27 in effector
149 the animal models developed to recapitulate disease phenotypes as a model for testing these therapie
150 on biological features, MPNs display diverse disease phenotypes as a result of both constitutional an
151 h gene-by-environment interaction effects on disease phenotypes as well as by bottom-up approaches th
152 ssociating HIV-gp120 genotype to a pulmonary disease phenotype, as we uncovered X4 viruses as potenti
153 assessed its influence on other small vessel disease phenotypes, as well as on messenger RNA (mRNA) e
156 ing processes for detecting and categorizing disease phenotypes at the point of care, thus reducing u
157 tream cluster trafficking and results in the disease phenotype, because there does not appear to be a
158 uency may indicate underlying differences in disease phenotype between patients and predict ultimate
160 ns between common genetic variants and human disease phenotypes, but the majority of these variants a
161 yonic fibroblasts (MEFs) resembled the human disease phenotype by showing multiple defects in oxidati
162 ex and the age of the animals studied affect disease phenotypes by modifying their susceptibility, pr
163 d us to control the onset and progression of disease phenotypes by the modulation of Fxn levels.
164 ificance of a gene under a condition (e.g. a disease phenotype) by studying graph representations of
165 ions, but the mechanisms leading to specific disease phenotypes can be investigated using strains of
167 onclusion NOTCH1 mutations define a distinct disease phenotype characterized by solid histology, live
171 ALS, and suggest that sex differences in the disease phenotype could be linked to differential activa
172 Moreover, we showed that the attenuated disease phenotype could be recapitulated with a single a
173 dogenous mixture of fatty acids manifest the disease phenotype: defective calcium dynamics and repola
175 analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospi
176 rt provides additional evidence for distinct disease phenotypes, determined by the presence of cSAH a
177 ess have a significant effect on the overall disease phenotype, enhancing mean survival in severely a
179 ion as the intermediary between genotype and disease phenotype, expression quantitative trait loci st
180 of hiPSC-cardiomyocyte models of congenital disease phenotypes for guiding large-scale screening and
182 nd metabolomics, with a comprehensive set of disease phenotypes from 510 participants of the TwinsUK
183 processes.Identifying gene subsets affecting disease phenotypes from transcriptome data is challenge.
184 es mGluR1, that are associated with distinct disease phenotypes: gain-of-function missense mutations,
189 eath of C9 and NT animals, which may mask C9 disease phenotypes, have been observed in recent C9-500
190 rcomeric proteins cause two reciprocal human disease phenotypes, hypertrophic or dilated cardiomyopat
191 rain-dependent host responses and diverse RV disease phenotypes.IMPORTANCE Genetic variation among hu
192 d show that it can lead to the rescue of the disease phenotype in a C. elegans model of Parkinson's d
193 al inhibition of myostatin signalling on the disease phenotype in a mouse model of LGMD R1 (CAPN3 kno
196 iorating both neuropathological features and disease phenotype in BACHD mice, and taken together with
198 pharmacological data and measures of cardiac disease phenotype in experimental cell, animal, and huma
200 peat region influences somatic expansion and disease phenotype in Huntington's disease and myotonic d
201 of the p.Gly23Val-MRAS variant to elicit the disease phenotype in iPSC-derived cardiomyocytes (iPSC-C
202 Vs induced a spontaneous relapsing-remitting disease phenotype in MOG(35-55)-immunized C57BL/6 mice.
203 Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed
204 N protein levels in vivo and ameliorated the disease phenotype in severe and intermediate mouse model
206 lar alterations in macrophage activation and disease phenotype in the Citrobacter rodentium model of
212 d C57BL/6 sepsis mouse models to establish a disease phenotype in which septic mice with various degr
214 vs. intronless cDNA in ameliorating retinal disease phenotypes in a rhodopsin knockout (RKO) mouse m
216 pathogenesis, and management should evaluate disease phenotypes in children and follow these over the
217 arch to date has been confined to studies of disease phenotypes in groups exposed to high doses and h
223 letion via nicotinamide riboside ameliorated disease phenotypes in SCA7 mice and patient stem cell-de
224 to obesogenic challenges exhibits metabolic disease phenotypes in skeletal muscle; sarcomere disorga
225 tar keratoderma and to be confident that the disease phenotypes in Slurp2(-/-) mice were not secondar
227 a major hurdle for accurately recapitulating disease phenotypes in vitro, as disease commonly manifes
229 may correlate with variations in Alzheimer's disease phenotype, in analogy to distinct prion strains
231 rophic cardiomyopathy, recapitulated seminal disease phenotypes including cardiac hypercontractility
232 erative disease MJD, and identified relevant disease phenotypes, including impaired movement from an
233 to be sufficient to transfer some aspects of disease phenotypes, indicating that altered microbiota i
235 ac function by 28 weeks, suggesting that the disease phenotype is more severe than in B10-mdx mice.
237 ibution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetic
241 he mutated Asp residue, which determines the disease phenotype, is conserved in all eukaryotic member
242 Our findings suggest myocardial dilation, a disease phenotype lacking specific therapies, can be pre
243 -onset type 2 diabetes has a more aggressive disease phenotype, leading to premature development of c
244 wo frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicit
245 as been severely hampered by a heterogeneous disease phenotype, limiting the interpretation of clinic
246 er, these technologies identified only a few disease phenotypes, limiting their role in clinical sett
247 iagnostic sensitivity in case subjects where disease phenotypes manifested in the head or brain.
248 orations are improving diagnostic precision, disease phenotyping, mechanistic understanding, and inte
249 ection between the gut microbiome and common disease phenotypes might be due to underlying changes in
250 le explanation for the species difference in disease phenotypes observed with HNF1A mutations and off
252 to have an immune-regulatory role, based on disease phenotypes of ISG15-deficient humans and mice.
253 rodent models of PR degeneration, where the disease phenotype often interferes with retinal developm
254 ecade, revealing significant improvements on disease phenotyping over current computational approache
257 s between UMOD and MUC1 regarding associated disease phenotype, protein structure, and function as a
258 egulation and barrier impairment orchestrate disease phenotypes, psoriasis-like immune dysregulation
259 tein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe sy
260 ses provides structure-based predictions for disease phenotypes: Residues mutated in XP-G are positio
261 tion, none have fully recapitulated the lung disease phenotypes seen in humans who have been hospital
262 epeating CAG pattern associated with altered disease phenotypes select for specific conformers with f
264 ound healing, and how activin A could elicit disease phenotypes such as cancer-related muscle wasting
265 ely understood how TNF can lead to different disease phenotypes such as destructive peripheral polysy
267 bility to probe the contribution of TRPV5 in disease phenotypes such as hypercalcemia and nephrolithi
268 te, however, did not reverse any ALS-related disease phenotypes such as motor dysfunction or decrease
269 mechanisms that differentially contribute to disease phenotypes, such as obese asthmatics or severe a
270 biological function, tissue expression, and disease phenotype than protein pairs interacting with th
271 ut mice displayed a dramatically more severe disease phenotype than wild-type mice after intranasal i
272 a morphological, anatomical and biochemical disease phenotype that closely resembles the human condi
273 tudy (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one
274 telomere deficiency is implicated in the CHH disease phenotype through an as yet unidentified mechani
275 r mechanisms whereby EMC1 dysfunction causes disease phenotypes through dysfunctional multipass membr
278 of adopting a multipronged approach to plant disease phenotyping to more fully understand the roles o
279 l fibroblasts retained most of the molecular disease phenotype upon in vitro culture for at least fou
280 between structural variation and Alzheimer's disease phenotype using solid-state nuclear magnetic res
281 all analyses of GWAS data consider reported disease phenotype values as is without accounting for po
282 e 1p13 rs12740374 variant on cardiometabolic disease phenotypes via transcriptomics and metabolomic s
286 pletion contains features of a mitochondrial disease phenotype, we evaluated the effects of forced ex
287 soluble APP alpha (sAPPalpha) contributes to disease phenotypes, we also investigated whether Fmr1(KO
288 te the molecular mechanisms underlying these disease phenotypes, we applied a site-specific quantitat
289 rential gene expression with smoking-related disease phenotypes, we demonstrated that stroke and pulm
291 bles consistent with early onset Alzheimer's disease phenotype were associated with higher rates of t
295 a disease spectrum with mild to very severe disease phenotypes whose traditional common characterist
296 ctive shCYP46A1, reproduced the Huntington's disease phenotype, with spontaneous striatal neuron dege
297 ing gammaPNAs and donor DNAs ameliorated the disease phenotype, with sustained elevation of blood hae
298 g alterations were specific for motor neuron disease phenotypes, with clinically overt upper motor ne
299 eta cells together with the heterogeneity in disease phenotypes within the patient population emphasi
300 a nearly identical clinical and pathological disease phenotype, yet maintained their structural diver