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1 f loss-of-function mutations associated with human disease.
2 genesis and is increasingly applied to model human disease.
3 osinophil degranulation with implications in human disease.
4 of microbial interactions in the context of human disease.
5 d their potential therapeutic translation to human disease.
6 many pathologic features consistent with the human disease.
7 ble observations from studies characterizing human disease.
8 aid in the therapeutic targeting of mTOR in human disease.
9 model of MVID that has many features of the human disease.
10 mpacts on the understanding and treatment of human disease.
11 development of selective UPR modulators for human disease.
12 ociated with advanced age, a risk factor for human disease.
13 ns, impacting gene expression and leading to human disease.
14 f available animal models recapitulating the human disease.
15 ork for developing noninvasive NHP models of human disease.
16 noblastic lymphoma phenotype that mimics the human disease.
17 er methylation events at 384 genes linked to human disease.
18 f exposure data in computational analysis of human disease.
19 ate the salient features of this progressive human disease.
20 ivation of Hedgehog signaling and EMT in the human disease.
21 ut microbiota that are truly associated with human disease.
22 tting them and their potential as models for human disease.
23 ct functional relevance for the treatment of human disease.
24 learning to pathophysiological processes in human disease.
25 y reflect the complex overall picture of the human disease.
26 Pde6b) that causes a phenotype mimicking the human disease.
27 investigation of how gene regulation affects human disease.
28 geting ~5,000 genes know to be implicated in human disease.
29 impeded our understanding of this important human disease.
30 that could have mechanistic implications for human disease.
31 logical processes and can be dysregulated in human disease.
32 hose related to the onset and progression of human disease.
33 ular underpinnings of vertebrate biology and human disease.
34 r evolved nor optimized for the treatment of human disease.
35 lammatory protein that is strongly linked to human disease.
36 he implication of this biological process in human disease.
37 ondrial Fe/S proteins and the importance for human disease.
38 how often these are the primary mechanism in human disease.
39 neurodegeneration, with wide application to human disease.
40 nt role in development, immune function, and human disease.
41 dies of murine MHC-Ib proteins as models for human disease.
42 cates autophagy as an important modulator of human disease.
43 ve essential roles in normal development and human disease.
44 ed animal models that sufficiently represent human disease.
45 theme reviews focusing on the glycocalyx in human disease.
46 e chronic, insidious nature prevalent in the human disease.
47 therapeutic implications of UPR signaling in human disease.
48 plain BicD2's role in neuronal migration and human disease.
49 f altering chromosome structure for treating human disease.
50 , a well-known model system for genetics and human disease.
51 sease in AGMs was similar to case reports of human disease.
52 pproaches to target Siglecs for treatment of human disease.
53 e mutant ugdh zebrafish do not phenocopy the human disease.
54 uently and represents a key driving event in human disease.
55 may also play a role in the pathogenesis of human disease.
56 genomic and biological heterogeneity of the human disease.
57 o induce an encephalomyelitis similar to the human disease.
58 al research and defining the pathogenesis of human disease.
59 Mutagenic compounds are a potent source of human disease.
60 sures and linking them to existing models of human disease.
61 ormal cell growth and differentiation and in human disease.
62 display issues with fidelity and validity to human disease.
63 ococcus aureus infection, recapitulating the human disease.
64 morrhagic fever virus, responsible for fatal human disease.
65 illustrate the pleiotropic impact of CNVs in human disease.
66 protease activity is a biomarker of several human diseases.
67 ant implications for the genetics of complex human diseases.
68 ferases (PKMTs), many of which are linked to human diseases.
69 l admission in China over a wide spectrum of human diseases.
70 tibility to and protection from a variety of human diseases.
71 -7) encode cation channels linked to several human diseases.
72 bryonic development, tissue homeostasis, and human diseases.
73 lar processes, and they are often altered in human diseases.
74 ental biological processes and are linked to human diseases.
75 ployable tests to diagnose these devastating human diseases.
76 produce spurious microbial associations with human diseases.
77 modification, has been implicated in various human diseases.
78 reasing attention in the genetics studies of human diseases.
79 e accelerated the diagnosis and treatment of human diseases.
80 act their functions, which may cause various human diseases.
81 oding RNAs that are potential biomarkers for human diseases.
82 s of how microbial metabolism contributes to human diseases.
83 identified thousands of loci associated with human diseases.
84 tractive therapeutic target for a variety of human diseases.
85 stress response, also implicated in several human diseases.
86 g RNAs (lncRNAs) are associated with various human diseases.
87 using C. elegans to model SEIPIN-associated human diseases.
88 erapeutic target for human cancers and other human diseases.
89 regarding the role of m(6)A reader YTHDF3 in human diseases.
90 e, thus better replicating the complexity of human diseases.
91 enesis and therapeutic resistance in various human diseases.
92 It also involves in the development of many human diseases.
93 , and inflammation with utmost importance in human diseases.
94 s human pathogen and associated with various human diseases.
95 new class of therapies for cancers and other human diseases.
96 ant role in the pathogenesis of a variety of human diseases.
97 itate risk assessment in respect to relevant human diseases.
98 en in the body's response to a wide range of human diseases.
99 ir role in determining phenotypes, including human diseases.
100 tegies to treat cancer and potentially other human diseases.
101 ygen species (ROS), is implicated in various human diseases.
102 amyloid core and are associated with deadly human diseases.
103 e silencing, are associated with a number of human diseases.
104 tches between the arms are also relevant for human diseases.
105 We also discuss the implications for human diseases.
106 potential approach for the treatment of some human diseases.
107 tective and pathological T cell responses in human diseases.
108 in both the normal aging process and common human diseases.
109 tization of STRs that may be associated with human diseases.
110 r physiology and anatomic location of common human diseases.
111 ificantly associated with phenotypes such as human diseases.
112 due to their wide therapeutic potential for human diseases.
113 ential benefits for the treatment of various human diseases.
114 ing drug leads for the treatment of relevant human diseases.
115 o inhibit CaMKK2 with potential for treating human diseases.
116 aling and play potentially damaging roles in human diseases.
117 of cholesterol trafficking leads to numerous human diseases.
118 , and is related to other viruses that cause human diseases.
121 e) - and for three equally important endemic human disease agents - Mycobacterium tuberculosis (tuber
123 ny of which involve proteins associated with human disease and are observed exclusively within the IF
124 nus Burkholderia contains members that cause human disease and are often extensively resistant to man
125 model may represent a heretofore undiagnosed human disease and could serve as a new animal model to s
127 e clinical relevance of genetic mutations in human disease and potential therapeutic opportunities wi
128 otyped remodeling in the early stages of the human disease and represents a promising finding for pro
129 ty models to better recapitulate age-related human disease and will ultimately yield more reliable ca
130 terial pathogens is associated with numerous human diseases and can confer resistance to both antibio
132 reading frame (ORF), leading to a variety of human diseases and considered therapeutic targets. To da
133 nt activation has been implicated in several human diseases and disorders and has spurred the develop
134 mal models and quantify similarities between human diseases and mouse models produced by the Internat
135 as accepted tools for investigating complex human diseases and new drug therapies because of their s
137 on in a number of animal models that reflect human diseases and that result in hyposalivation and xer
139 unctional class that contribute to penetrant human disease, and demonstrate the power of large-scale
140 n cells, how DNA repair failures can lead to human disease, and how PARP inhibitors have emerged as a
141 r autophagosome formation, is defective in a human disease, and influences the way we consider how au
142 been previously reported in association with human disease, and it has intolerance to LoF as illustra
143 no licensed vaccine exists for prevention of human disease, and mechanisms underlying chronic illness
144 Protein misfolding causes a wide spectrum of human disease, and therapies that target misfolding are
145 ow representative the rodent model is of the human disease, and therefore significant emphasis has be
147 aling pathway activity is etiologic for many human diseases, and modulating activity of signaling pat
149 , primary astrocytes may better recapitulate human disease, are easier to maintain than other primary
150 tion, identify gene flow and the response to human disease as strong drivers of genome-level populati
151 eplaces the function of Cdk8 in the fly, the human disease-associated CDK19 variants behave as strong
152 diverse proteins, including 64 orthologs of human disease-associated genes with 40 as potential new
153 process of Complex III and allow mapping of human disease-associated mutations onto the Bcs1 structu
155 e insights as sentinels for exposure-related human disease because they share similar exposures in th
156 ffect by interacting with RNA, both to study human disease biology and provide lead therapeutic modal
160 n biochemistry with implications for several human diseases, biotechnology and biomaterial sciences.
161 k-translating the clinical manifestations of human disease burden into animal models is increasingly
162 olved in the pathogenesis of SHP2-associated human diseases but also provide evidence that PTP may be
163 identified numerous genetic loci underlying human diseases, but a fundamental challenge remains to a
164 is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing
165 in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Pr
168 ction is associated with a growing number of human diseases collectively referred to as ciliopathies.
171 s to different biological systems, including human diseases (e.g., brain disorders and cancers), plan
172 of the organs that is most often affected in human disease, either during development or in postnatal
177 for example by prioritizing among candidate human disease genes based on their network properties or
179 s in humans is important for the progress of human disease genetics; this requires finding strategies
180 es that the role of lysosomal dysfunction in human diseases goes beyond rare inherited diseases, such
182 idence for the contribution of microbiota to human disease has spurred an effort to develop therapies
183 techniques to ascertain its contribution to human disease have lagged far behind our understanding o
186 transcriptional and metabolic aspects of the human disease, highlighting the suitability of the GAN D
187 identified common genetic variants impacting human diseases; however, there are indications that the
188 d knowledge base for studying their roles in human diseases.IMPORTANCE Mites are important group of a
190 , a conclusion broadly relevant for the many human diseases in which oligogenic inheritance is emergi
191 se (GGT1) has been implicated in an array of human diseases including asthma, reperfusion injury, and
192 se critical proteins have been implicated in human diseases including Brugada syndrome, idiopathic ve
193 on sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilo
194 at high levels is a risk factor for several human diseases including gout and cardiovascular disease
195 cognized as an essential contributor to many human diseases including neurodegenerative disorders.
197 el demonstrates pathological features of the human disease, including increased right ventricular pre
198 Notch signaling has also been implicated in human disease, including multiple forms of cancer, and r
200 GBA) motif and whose dysregulation underlies human diseases, including cancer and birth defects.
201 lum (ER) is emerging as a possible driver of human diseases, including cancer, diabetes, obesity and
203 have been linked to many different types of human diseases, including developmental disorders, leuke
206 ogical stress has adverse effects on various human diseases, including those of the cardiovascular sy
208 enotypes, but the environmental component of human disease is extremely underrepresented in these lin
209 udies that examine the role of microbiota in human diseases is a pervasive challenge that limits the
210 on in the mouse does not perfectly model the human disease, it shares many pathological features.
213 nt insights into the pathogenesis of complex human diseases, little is known about the impact of host
214 mutations in MRPs have been associated with human diseases, little is known about their role during
215 old substantial promise in the prevention of human disease, many obstacles remain that have hampered
216 ate that for numerous prevalent, high-burden human diseases, matching cases and controls for confound
217 organism in biomedical research for studying human disease mechanisms and treatments, but its annotat
222 or understanding the pathogenesis of various human diseases-notably autoimmune, inflammatory and infe
223 in genes that have not been associated with human disease (odds ratio, 2.22; 95% CI, 1.41 to 3.34),
224 in animal models failed to be translated to human disease, our platform also incorporated the evalua
225 stry and swine are key intermediate hosts of human disease outbreaks, we synthetically resurrected a
226 lls (hiPSCs) have revolutionized research on human diseases, particularly neurodegenerative and psych
227 ls is a powerful tool for the exploration of human disease pathogenesis in biomedical research, as we
229 cRNA-seq) provides an opportunity to dissect human disease pathophysiology at unprecedented resolutio
231 ectious microbes serve as the causes of many human diseases, physicians and scientists have sought to
234 sk factors frequently affect multiple common human diseases, providing insight into shared pathophysi
235 hether the first SV2A mutation identified in human disease (R383Q) could provide information regardin
236 a new approach to model genetic diversity in human disease, referred to as variation spatial profilin
239 ribution of liposome-loaded neutrophils in a human-disease-relevant myocardial ischemia reperfusion i
243 odels are becoming increasingly important in human disease research, such as cancer, as they often di
244 , macronutrient cycling, carbon storage, and human disease risk [10-12], so understanding its respons
245 et pipelines and treating a larger number of human diseases, robust platforms for the rational design
247 oad utility of peptide-based therapeutics in human disease settings where unmet needs still exist.
248 ise in humans or define a not yet identified human disease.SIGNIFICANCE STATEMENT The development of
249 P. gingivalis-induced FGR, with relevance to human disease since dysregulation of placental Htra1 and
251 he context of both embryonic development and human disease, specifically developmental syndromes and
254 ts are associated with a range of hereditary human diseases such as Alport syndrome, which is caused
255 contribute to the development of a number of human diseases such as amyotrophic lateral sclerosis, Hu
256 creasingly associated with many debilitating human diseases such as ataxia, Gillespie syndrome, and g
257 proteasome activity is often associated with human diseases such as cancer and neurodegeneration, and
258 s as checkpoints in immune cell responses in human diseases such as cancer, asthma, allergy, neurodeg
260 egicus, has been used as a model for complex human diseases such as cardiovascular disease, diabetes,
262 iring (excitability) and have major roles in human diseases such as epilepsy, schizophrenia, cancer,
264 cobacterium and Corynebacterium cause severe human diseases such as tuberculosis (Mycobacterium tuber
265 Gene Ontology (GO) pathways relevant to the human disease, such as type I and II interferon signalin
266 l to the etiology of a wide range of serious human diseases, such as Alzheimer's disease and prion di
267 plain the missing heritability of late-onset human diseases, such as Alzheimer's disease, Parkinson's
268 and glycosylation are common in a variety of human diseases, such as cancer, cystic fibrosis, and inf
269 log inhibitors for the treatments of various human diseases, such as cancers and viral pathogens.
270 een proven to have a close relationship with human diseases, such as inflammatory diseases and malign
271 ction, which is a hallmark of aging and many human diseases, such as neurodegenerative diseases, card
272 oup of highly disabling and life-threatening human diseases, such as neurodegenerative disorders and
273 bnormal mitochondria can trigger a series of human diseases, such as Parkinson's disease, multifactor
274 The data recapitulate many aspects of the human disease, suggesting that metabolic adaptations in
275 ncy-dependent selection plausibly acted on a human disease susceptibility locus, a form of balancing
276 uses) are nonenveloped viruses implicated in human disease that serve as tractable models for studies
278 tandem repeats are responsible for almost 50 human diseases, the majority of which are severe, degene
279 hat implicate Wallerian degeneration in rare human diseases; the capacity for lifelong rescue of a le
280 rd to the importance of class F signaling in human disease, these receptors provide an attractive tar
281 are widely used to identify animal models of human disease through phenotypic similarity, for differe
282 ng promise of boosting genetic research into human diseases through the re-mining of the rich accumul
284 necessitates studies using animal models of human disease to gauge future efficacy in humans, howeve
287 del of ascending UP infection that resembles human disease, using vaginal inoculation combined with m
289 ng links between altered metabolism and many human diseases, we as developmental biologists can contr
292 al of synthetic biology for the treatment of human disease when drug development criteria are incorpo
293 classified, standardized and maintained all human diseases, when many academic and commercial online
294 expression of FOXA1 and PTEN is prevalent in human disease, where PTEN and FOXA1 are downregulated by
295 hat epivariations may underlie a fraction of human disease which would be missed by purely sequence-b
296 tic aneurysms exhibiting all the features of human disease, which was associated with transdifferenti
297 ndamentals of development and progression of human diseases, which includes chromosomal, monogenic, m
298 enes encoding RNA exosome subunits linked to human disease while also suggesting that disease mechani
300 the gene-regulatory networks dysregulated in human disease would allow the design of network-correcti