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1 CAH), resulting from mutations in CYP11B1, a gene encoding 11beta-hydroxylase, represents a rare auto
2 n mice with global deficiency of the Cyp27b1 gene encoding 25-hydroxyvitamin D 1-alpha-hydroxylase, w
5 andidate PSS1 genes identified the At3g59640 gene encoding a glycine-rich protein as the putative PSS
7 GAS isolates had an identical mutation in a gene encoding a key regulatory protein that yielded a hy
8 tingly, CadC also directly represses lspB, a gene encoding a lipoprotein signal peptidase whose expre
9 he disease is caused by mutations in OPA1, a gene encoding a mitochondrial large GTPase involved in c
10 ily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channe
11 analysis, we showed that the expression of a gene encoding a novel transcription factor, CITF1 (Cu-DE
13 ISG15 is a type I interferon (IFN)-inducible gene encoding a protein with pleiotropic functions, acti
14 identified a mutation within a GBS-specific gene encoding a putative glycosyltransferase that confer
16 were unexpectedly linked to mutations in the gene encoding a subunit of the Go-Ichi-Ni-San (GINS) com
18 hran virus that lacks a full complement of a gene encoding a transcription activator protein (TrAP).
19 rnally expressed gene 3 (Peg3), an imprinted gene encoding a zinc finger transcription factor postula
20 was identified as interacting with the doc2a gene, encoding a calcium-sensitive exocytosis regulator,
21 xpression of the maize PLASTOCHRON1 (ZmPLA1) gene, encoding a cytochrome P450 (CYP78A1), results in i
22 torage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the So
23 acent to the operon of the sulfide-oxidizing genes, encoding a sigma(54) -dependent transcription fac
24 2 are indirectly affecting the expression of genes encoding ABA signaling proteins to affect ABA sens
26 3IP2 is a candidate psoriasis susceptibility gene encoding Act1, an adaptor protein with ubiquitin li
27 ing protein encoded in MiD51/Mief1/SMCR7L, a gene encoding an annotated protein promoting mitochondri
28 , which carry a null mutation in the Bloc1s6 gene encoding an essential component of this complex.
33 (cg12701571) located in the promoter of the gene encoding Asb1 (beta-coefficient=0.56 standard error
36 opy gain-of-function mutations in the CTNNB1 gene encoding beta-catenin that also activate canonical
41 In this study, by inactivating in mice the genes encoding both factors in differentiated Tregs, we
43 nucleotide variants (SNVs) revealed that the gene encoding brain-derived neurotrophic factor (BDNF) w
45 emergence of dedicated KIR2DL2/3 and KIR2DL1 genes encoding C1 and C2 receptors, respectively, could
46 gle missense mutation (S163R) in the C1QTNF5 gene, encoding C1q And Tumor Necrosis Factor Related Pro
47 first characterization of a mutation in the gene encoding CaMKIIalpha linked to a specific neuropsyc
48 using mutations: the sarcomeric mutations in genes encoding cardiac troponin I (TNNI3p.98truncation )
50 ncoded by Prdm1) repressed expression of the gene encoding cathepsin S (Ctss), a cysteine protease th
51 or MntR to activate the transcription of two genes encoding cation diffusion facilitator (CDF) family
53 homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which le
54 We conclude that guinea pigs lack an intact gene encoding CD59; to our knowledge, this is the first
57 formed a targeted RNA interference screen of genes encoding chromatin-modifying enzymes, signaling mo
58 archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system
59 ited a candidate region including two linked genes encoding coiled-coil nucleotide-binding leucine-ri
61 uted to the success of the family, including genes encoding Cycloidea-like transcription factors, kin
63 -) CD8(+) T cells, including Tbx21, Gzmb and genes encoding cytokines and chemokines, and genes contr
64 PDA in mice, whereas deletion of Clec7a-the gene encoding dectin 1-or blockade of dectin 1 downstrea
65 al times independently by duplication of the gene encoding deoxyhypusine synthase, an enzyme involved
68 lant genomes have avoided being overrun with genes encoding dose-sensitive subunits of multiprotein c
69 hat coordinately regulates the expression of genes encoding drug-metabolizing enzymes and drug transp
73 In this study, we show that deletion of the genes encoding either NfnI or NfnII affects the cellular
74 for Dent disease caused by mutations in the gene encoding endosomal proton-chloride exchange transpo
76 st, obeticholic acid increased expression of genes encoding enzymes involved in ureagenesis compared
77 well as for ensuring the rapid induction of genes encoding enzymes required for anaerobic metabolism
81 s showed that ATF6, which is known to induce genes encoding ER proteins that augment ER protein foldi
84 ) SMG cells exhibited elevated expression of genes encoding extracellular matrix, basement membrane p
85 TGF-beta, gene ontology analysis showed that genes encoding extracellular proteins were most strongly
86 this strain harbours a mutation in the hemH gene encoding ferrochelatase, substantially reducing fer
87 sociated with type 2 diabetes, and AHSG, the gene encoding fetuin-A, has been identified as a suscept
88 ium Bacillus subtilis shows high homology to genes encoding fibronectin-binding proteins of Gram-posi
89 spR-Cas9-mediated gene editing to delete the gene encoding for AC, ASAH1, in human A375 melanoma cell
91 se myoblasts expressing a mutant form of the gene encoding for desmin intermediate filaments, p.D399Y
92 tic photoreceptors is used to target the Nrl gene, encoding for Neural retina-specific leucine zipper
97 gene expression in the human brain and that genes encoding for neuronal synaptic function may be par
98 lls such that with acute inactivation of the gene encoding FOXO1, T cells revert to a short-lived eff
100 category of 'cell wall/membrane biogenesis', genes encoding glycosysltransferases accumulated the mos
101 c content in the distal gut by enriching for genes encoding glyosyltransferases and bile salt hydrola
104 he liver correlated with upregulation of the gene encoding hepcidin, which is known to have antimicro
106 s of seed development in grape revealed that genes encoding homeobox transcription factors were diffe
110 dhood disease caused by mutations in the IDS gene encoding iduronate-2-sulfatase, a crucial enzyme in
112 nalysis identified S. sanguinis strains have genes encoding IgA proteases, mitogenic factor deoxyribo
115 le nucleotide polymorphisms (SNP) located in genes encoding interacting TJ proteins and corresponding
118 s fusions in the FGFR2 gene and mutations in genes encoding isocitrate dehydrogenases (in approximate
119 arry loss-of-function mutations in the KEAP1 gene encoding Kelch-like ECH-associated protein 1 (refs.
120 of all genes have significant ASE, and that genes encoding kinases show evidence of lineage-specific
122 synonymous variations in EBV genes including genes encoding latent, early lytic, and tegument protein
123 cifically, loss-of-function mutations in the gene encoding LegC4 resulted in enhanced L. pneumophila
124 ryonic skin identified altered expression of genes encoding lipid-metabolism enzymes, skin barrier-as
125 e same time points, several defense response genes (encoding LRR-containing, NBARC-containing, pathog
128 ridA mutant resulted in lower expression of genes encoding many flagellar assembly components, which
131 ssociated with malignant transformation, and genes encoding membrane trafficking proteins have been i
132 re predicted using five different databases; genes encoding membrane transporters and their regulator
133 teractions between transcription factors and genes encoding metabolic activities in the eukaryote, Sa
135 bacteria and that manipulation of microbiota genes encoding metabolites that elicit host cellular res
136 opmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that
141 ied PTEN mutations and reduced expression of genes encoding neoantigens as potential mediators of res
142 t diaphragm proteins, orthologs of the human genes encoding nephrin and nephrin-like protein 1, coloc
143 tal potential in immature INPs by repressing genes encoding neuroblast transcriptional activators.
147 ing of four indicated that two isolates held genes encoding nitrate reductase as the only dissimilato
150 from loss-of-function mutations in the IKBKG gene encoding nuclear factor kappaB (NF-kappaB) essentia
152 ly, these data show that a virus can acquire genes encoding nutrient transporters from a host genome
153 tilisin/kexin type 1 (Pcsk1) expression, the gene encoding PC1/3, which controls GLP-1 production, wa
155 direct transcriptional inducer of the human genes encoding PD-L1 and PD-L2 through the vitamin D rec
156 scherichia coli when it is co-expressed with genes encoding PEB biosynthesis (i.e. ho1 and pebS).
157 individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a sma
158 n significantly altered transcription of the genes encoding pilus in the presence of bacitracin.
160 re has been no evidence that knockout of the gene encoding PLCzeta abolishes the ability of sperm to
161 kidney disease is caused by mutations in the genes encoding polycystin-1 (PC1) and polycystin-2 (PC2)
164 senchyme-specific deletion of CDH-implicated genes encoding pre-B cell leukemia transcription factors
165 three stage 4 tumors contained mutations in genes encoding protein products that regulate immune fun
166 th Alagille syndrome identified dysregulated genes encoding proteins enriched at the apical side of c
169 earch for Arabidopsis (Arabidopsis thaliana) genes encoding proteins resembling enzymes involved in B
170 signature unique to HSCs with a list of 160 genes encoding proteins that are known to interact with
171 r of transcription, predominately activating genes encoding proteins that are localized to the cell e
172 enotypes are more likely to be caused by two genes encoding proteins that interact within the same pa
173 highly restricted but unexpectedly included genes encoding putative pluripotency factors expressed a
174 ation analysis to identify several candidate genes encoding putative trans-chrysanthemol and trans-ch
178 paralogs PDIA8 and PDIA2 are each flanked by genes encoding Rho guanine-dissociation inhibitors (GDI)
181 show here for KSHV that transcription of the gene encoding RTA is complex and leads to the expression
186 s to down-regulate the expression of diverse genes encoding secreted molecules and extracellular matr
189 red with wild-type, the expression levels of genes encoding several transporters/channels related to
196 stilbenoids remain to be elucidated, and the genes encoding stilbenoid-specific prenyltransferases ha
200 tudied functional replacement of the mutated gene encoding survival motor neuron 1 (SMN1) in this dis
201 chemically confirming expression of selected genes encoding synaptic (Cplx2 and Pclo) and semaphorin
203 netic studies of BD or MDD that investigated genes encoding targets of the pathway/mediators related
206 un sequencing and sequencing analysis of the gene encoding the 16S rRNA were performed to interrogate
207 ed an enrichment of de novo mutations in the gene encoding the 330-kDa triple functional domain (TRIO
208 Here we report that targeted deletion of the gene encoding the AAA+-ATPase Atad3a hyperactivated mito
209 me has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7
210 biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in col
211 idence of oncogenic mutations in PIK3CA, the gene encoding the catalytic subunit of PI3K, PI3K inhibi
215 fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conducta
216 ystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conducta
217 strain, in which human interleukin 6 (IL-6) gene encoding the cytokine that is important for B- and
218 peat (VNTR) polymorphism in DAT1/SLC6A3 (the gene encoding the DA transporter (DAT)) were tested.
219 elements within the regulatory region of the gene encoding the differentiation-associated gene, Fos-r
220 ssociated with risk of schizophrenia are the gene encoding the dopamine D2 receptor and those involve
224 Using a genetic mouse model in which the gene encoding the GR is selectively deleted in NKp46(+)
227 single-nucleotide polymorphism (SNP) of the gene encoding the immunomodulatory receptor CTLA-4 that
228 Multiple lines of evidence link the ITGB3 gene encoding the integrin beta3 subunit with the seroto
229 hed invasive strain, the carrier allele (the gene encoding the LiaS protein with an arginine-to-glyci
230 n processing and presentation, including the gene encoding the major histocompatibility complex (MHC)
232 tly girls with heterozygous mutations in the gene encoding the methyl-CpG-binding protein MeCP2 on th
233 TD), which can be caused by mutations in the gene encoding the microtubule-associated protein TAU (MA
234 in epithelial and myeloid cells, whereas the gene encoding the more tissue-restricted PD-L2 was regul
235 TATEMENT Genetic studies implicate Slc1a1, a gene encoding the neuronal glutamate transporter EAAC1,
237 IC90, including a novel mutation within the gene encoding the P. falciparum chloroquine resistance t
242 osomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, M
243 minant loss-of-function mutations of GNAL, a gene encoding the stimulatory G-protein Galphaolf, which
244 molecular-based methodologies targeting the gene encoding the terminal step in the denitrification p
245 ing distal tubular expression of CLDN10, the gene encoding the tight junction protein Claudin-10, sho
248 ological disorder caused by mutations in the gene encoding the transcription factor Methyl CpG Bindin
249 , and a smaller number involve fusion of the gene encoding the transcriptional activator YAP1 (ST-EPN
252 t, SA11-tsC, has a mutation that maps to the gene encoding the VP1 polymerase and shows diminished gr
253 tide polymorphism, rs13266634 in the SLC30A8 gene encoding the zinc transporter ZnT8, is associated w
254 ide polymorphisms (SNPs) in the human CHRNA5 gene, encoding the alpha5 nAChR subunit, that increase t
256 Neural transcript expression of only one gene, encoding the Npas4 transcription factor, was >twof
257 Here, we show that mutation of the ciaR gene, encoding the response regulator of the CiaRH two-c
258 ion that are caused by mutations in the ALPL gene, encoding the tissue-nonspecific alkaline phosphata
259 e second position of intron 36 of the Col1a1 gene, encoding the type I collagen, alpha1 chain, was re
260 o address the diversity and distributions of genes encoding the biosynthesis of specialized metabolit
261 Here we provide evidence that five of the genes encoding the core complex of the T9SS are co-trans
264 eterodimers, which activate transcription of genes encoding the feedback repressors PERIOD and TIMELE
265 utations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, i
267 CD8(+) T cells, as well as low expression of genes encoding the immunotherapy target PD-1 immune chec
269 In the yeast Saccharomyces cerevisiae, the genes encoding the metallothionein protein Cup1 are loca
272 nt interrupted in both ndufs8.1 and ndufs8.2 genes encoding the NDUFS8 subunit and the previously cha
273 stoma and found a preferential dependency on genes encoding the polycomb repressive complex 2 (PRC2)
274 EBH regulates the rhythmic expression of the genes encoding the rate-limiting enzymes for glycogenoly
276 these observations, the mRNAs of SOCS family genes encoding the STAT signalling inhibitory proteins S
277 its activity is affected by mutations in the genes encoding the transmembrane proteins TMHS, TMIE, TM
278 incomplete and apparently inactivated set of genes encoding the upper branch of methyl group oxidatio
282 early B-cell development, yet lesions of the genes encoding these transcription factors occur in over
284 rane protein (OMP) BB0406 and found that the gene encoding this OMP was cotranscribed with the gene e
288 novo heterozygous missense mutations in the gene encoding translation elongation factor eEF1A2 have
290 incurable disease caused by mutations in the gene encoding type VII collagen, the major component of
292 t that WT1 stimulates expression of Kdr, the gene encoding VEGF receptor 2, in murine embryonic gonad
293 s types includes unexpected diversity in the genes encoding viral proteases (2A(pro)) that help these
294 ic factors that have been identified include genes encoding virus receptors, receptor-modifying enzym
295 n in RB-KO organoids and upregulation of the gene encoding VLDLR, a receptor important in reelin sign
296 differentially hydroxymethylated regions in genes encoding voltage (Kv1.1, Kv1.2, Kvb1 and Kv2.2)- a
299 lighted significant changes in expression of genes encoding xenobiotic metabolism (cyp4) and moulting
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