Input: We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls.

DBP

bipolar disorder


Input: Anaplerotic therapy in Mecp2 knockout mice also improved indicators of impaired substrate utilization, decreased adiposity, increased glucose tolerance and insulin sensitivity, decreased serum leptin and insulin, and improved mitochondrial morphology in skeletal muscle.

insulin sensitivity


Input: Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the RECQL-helicase gene BLM.

RECQL

chromosomal instability


Input: In contrast, ENL lesions represent immediate-type hypersensitivity reactions reflecting the selective stimulation of cytokines that attract neutrophils, stimulate antibody production, and down-regulate macrophage activation.

ENL

hypersensitivity reactions


Input: A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency.

factor X

factor X deficiency

factor X

factor X deficiency


Input: In the leukocyte adhesion deficiency (LAD)-1 syndrome, there is diminished expression of beta2 (CD18) integrins.


Input: Our results indicate that increase of systolic blood pressure (SBP) is favored by ACE I/D-D allele and advanced age, while alcohol consumption and aging are associated with high diastolic blood pressure (DBP).

DBP

systolic blood pressure


Input: The potency of these compounds on these features of apoptosis were in the order of HDB > HMDB > DBM in colorectal carcinoma COLO 205 cells.

HDB

colorectal carcinoma


Input: Knockdown of MTDH expression in HCC cell lines resulted in downregulation of N-cadherin and snail, upregulation of E-cadherin, and translocation of β-catenin.

HCC

translocation


Input: Subsequently, transfection of the human mammary tumor cell line, MCF-7, and the human mesothelioma cell line, H-MESO-1, with the PBGD-DNA-containing plasmids was shown to produce a 2. 5-2. 7-fold increase in enzyme activity.

PBGD

mammary tumor


Input: Several genes (TGFbeta RII, IGFIIR, MSH3, MSH6, BAX, MBD4) with significance in tumorigenesis harbor repeats in their coding regions and are often somatically inactivated because of deletions causing frameshifts.

tumorigenesis


Input: Furthermore, in the esophagus cell lines, the normoxic and hypoxic expression levels of LOX and BNIP3 were below the detection limit in OE19 and OE33, respectively.

LOX

hypoxic


Input: Transient receptor potential cation channel-6 (TRPC6) is one of the proteins that plays a key role causing focal segmental glomerulosclerosis (FSGS) associated with the steroid-resistant nephritic syndrome (SRNS).

nephritic syndrome


Input: Neuritin has several effects in the nervous system, such as promoting neurite outgrowth, modulating neurite outgrowth during neuronal differentiation, protecting motor neuron axons, promoting dendritic growth, shaping dendritic arbors of target neurons, regulating synaptic plasticity, stabilizing active synapses, promoting synaptic maturation and neuronal migration, promoting the development and maturation of visual cortical neurons, regulating apoptosis of proliferative neurons, and regenerating peripheral nerve and spinal axons.

neuronal migration

nervous system


Input: In a sequence analysis of the iduronate-2-sulfatase gene, evidence was obtained for the R468Q (G1403 to A) mutation, a common one in Hunter disease.

Hunter disease

Hunter disease


Input: Moreover, transfection of dominant negative MKP-1 cDNA led to p38 MAPK activation and PP2Acα down-regulation in U937 cells, while PP2A inhibitor attenuated caffeine-induced ERK inactivation and MKP-1 down-regulation.

caffeine


Input: The latter, biochemically defined association was confirmed in an independent population-based cohort of at-risk drinkers with a median alcohol intake of 300 g/week (OR 4. 75; P (genotype) = 0. 040; P (allelic) = 0. 022), and for aspartate aminotransferase (AST) levels.

AST

alcohol intake


Input: Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.

sporadic


Input: Molecular characterization of RET/PTC3; a novel rearranged version of the RETproto-oncogene in a human thyroid papillary carcinoma.

thyroid papillary carcinoma

thyroid papillary carcinoma


Input: A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

cleidocranial dysplasia

cleidocranial dysplasia


Input: PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation.

squamous-cell carcinomas

squamous-cell carcinomas


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

breast cancer

breast cancer


Input: Thus, failure of activated PBMC to bind CD40-Ig is not an absolute diagnostic hallmark of XHIM and molecular analysis of the CD40L gene may be required for the correct diagnosis.

XHIM

XHIM


Input: Moreover, we show that GA down regulates the levels of Fra-1 and c-Jun, two main components of AP1 transcription complex in invasive breast cancer cells and that AP1-specific inhibitor abrogates breast cancer cell invasion.

invasive breast cancer


Input: Apolipoprotein E Sendai (arginine 145--& gt; proline): a new variant associated with lipoprotein glomerulopathy.

Apolipoprotein E

lipoprotein glomerulopathy

Apolipoprotein E

lipoprotein glomerulopathy


Input: Ser-752--& gt; Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.

integrin beta 3

Glanzmann thrombasthenia

integrin beta 3

Glanzmann thrombasthenia


Input: Serum parameters like AFP, CEA, CA-125, IAP, LDH, SA, TGF-alpha, and M-CSF have been used as ovarian tumor markers.

IAP

ovarian tumor


Input: Our results suggest that activated PPARα can compete with GATA-4 binding to NFATc4, thereby decreasing transactivation of NFATc4, and interfering with ET-1 induced cardiomyocyte hypertrophy.

GATA

cardiomyocyte hypertrophy


Input: Infection of CD4 + T cells by HTLV-1 is therefore thought to play a pivotal role in HTLV-1-related pathogenicity, including leukemia/lymphoma of CD4 + T cells and chronic inflammatory diseases.

leukemia


Input: Demonstration of disrupted cholesterol homeostasis in this select group of patients provides further evidence of the involvement of the immune system in atherogenesis and may inform us of the role of CD36 in the general atherogenic process.

atherogenesis


Input: A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes.

HRAS

CS

HRAS

CS


Input: In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon.

hypochondroplasia

hypochondroplasia


Input: Moreover, our data demonstrated that the functional transformation of hypoxia-induced autophagy, pro-survival to pro-death, was rigorously regulated by the switch between hypoxia-inducible factor-1α (HIF-1α) and mammalian target of rapamycin (mTOR) pathways.

mammalian target of rapamycin

hypoxia


Input: Association of ApoE and LRP mRNA levels with dementia and AD neuropathology.

LRP

dementia


Input: G6PD deficiency, variations at nts 388 and 521 of OATP2 gene, and variations at nt-211 and in the promoter area of UGT1A1 gene were reported to be the risk factors for the occurrence of mild hyperbilirubinemia amongst Taiwanese adults.

mild


Input: The present study was undertaken to evaluate the association between peroxisome proliferator activated receptor (PPAR) α and PPARγ polymorphisms, two genes involved in lipid metabolism and adipocyte differentiation, and elements of the metabolic syndrome, lipodystrophy, or carbohydrate metabolism abnormalities in patients receiving HAART.

PPAR

abnormalities


Input: Increasing numbers of either ERCC1 118 or XRCC1 399 variant alleles were associated with shorter survival of non-smoking female lung adenocarcinoma patients (Log-rank P < 0. 001).

smoking


Input: In mouse models of acute and chronic colitis, oral administration of Elafin-expressing LAB decreased elastolytic activity and inflammation and restored intestinal homeostasis.

Elafin

inflammation


Input: Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC.

DSC

DSC


Input: With increasing visfatin tertiles, patients proved to be more often anorectic (P < 0. 05) and to have incrementally lower serum albumin, cholesterol and triglycerides as well as lower essential and non-essential serum amino acids (P < 0. 05 for all).

visfatin

anorectic


Input: We investigated the relationship between IGF1 promoter cytosine-adenine (CA) dinucleotide-repeat polymorphism length and CRC risk in 121 MMR gene mutation carriers using Cox regression and Kaplan-Meier analysis.

regression


Input: In asymptomatic sickle cell patients the upward deviation of mean serum IL-8 levels was significantly greater in Duffy-negatives (n = 20) than in Duffy-positives (n = 8) (P = 0. 011).

asymptomatic


Input: These data suggest that variation within genes on the serotonin pathway, particularly HTR3A, may have modest effects on autism risk.

autism

autism


Input: In addition, our results allow for the possibility that controlled overexpression of RCAN1-1L in the striatal region of the brain might be a viable avenue for therapeutic intervention in Huntington disease patients (and perhaps other polyglutamine expansion disorders).

Huntington disease

Huntington disease


Input: The distribution of TNFRSF11B haplotypes significantly differed in sporadic PDB cases and controls (chi (2) = 30. 2, df = 9, p < 0. 001) because of over-representation of haplotypes containing the G1181 allele in cases.

sporadic


Input: Because loss of signaling mediated by TP53 is associated with the development and survival of many human tumors, identification of gene expression profiles in morphologically normal cells that carry " one-hit " p53 mutations may reveal novel biomarkers, enabling the discovery of potential targets for chemoprevention of sporadic tumors as well.

sporadic


Input: To investigate the mechanism of hyperinsulinaemia in rats with acute liver failure induced by the administration of d-galactosamine (GalN), we focused on the role of polyprimidine tract-binding protein (PTB) in islet insulin synthesis.

GalN

hyperinsulinaemia


Input: NDG could effectively inhibit the stereotyped behaviors in TS rats, and the mechanisms may be related to the suppression of DA system by increasing the content of HVA in sera, decrease the content of DA and repressing the expression of DRD2 mRNA in striatum.

stereotyped behaviors


Input: We evaluated the mRNA levels of the hMSH2 and hMLH1 components of the mismatch DNA repair (MMR) system in 29 unselected frozen pairs of primary non-small cell lung carcinomas (NSCLCs) and their adjacent normal tissue (ANTs) specimens by quantitative real-time PCR analysis relative to housekeeping Porphobilinogen deaminase (hPBGD) mRNA.

Porphobilinogen deaminase

carcinomas


Input: The immune-related pathways, ribosome pathway, immune-related genes including (HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DOA and HLA-DRA) and ribosome-related genes (RPL31, RPS3A and RPL9) might be involved in systemic vasculitis.

systemic vasculitis


Input: In cardiomyopathic hamsters with heart failure, the atrial levels of immunoreactive ANF are decreased while the plasma and ventricular levels are increased.

ANF

heart failure


Input: The distribution of DR3 and DR4 risk alleles was not associated with cardiovascular autonomic neuropathy both in patients with normal albumin excretion rate and microalbuminuria (1. 6 vs 2. 1; p = 0. 21).

autonomic neuropathy


Input: Macrophage scavenger receptor A (SR-A) and class B scavenger receptor CD36 (CD36) contribute to foam cell formation and atherogenesis via uptake of modified lipoproteins.

atherogenesis


Input: The EWS/Fli-1 fusion gene, a product of the translocation t (11; 22) (q24; 12), is detected in 95% of ES patients.

EWS

translocation


Input: The levels of plasma Ang II and endoxin were all obvious positive correlation with systolic blood pressure (SBP) and diastolic blood pressure (DBP) (Ang II: r = 0. 5151, 0. 7978; endoxin: r = 0. 4706, 0. 7274, respectively).

DBP

systolic blood pressure


Input: When overexpressed in breast cancer cells, these forms of cyclin E induce genomic instability, resistance to inhibition by p21 and p27, and resistance to antiestrogen therapy.

cyclin E

genomic instability


Input: In patients with the presence of at least one unfavourable cytogenetic abnormality (deletion of 13q14, deletion of 17p13, aberrations of 11q), a significantly increased BM MVD was observed (254 +/-93 vs. 160 +/-60 in patients with absence of these abnormalities; P = 0. 0035).

MVD

abnormalities


Input: An important role for CX3CL1 in neuroinflammation and neurodegeneration has been suggested in recent publications.

neurodegeneration


Input: Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: the influence of smoking.

smoking


Input: Diabetic mice, which typically show impaired postischemic muscular neovascularization and blood perfusion recovery, have these defects corrected by intramuscular gene transfer of a dominant negative mutant form of p75 (NTR).

NTR

neovascularization


Input: A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study.

UTR

cervical cancer


Input: Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

mucopolysaccharidosis type IIIA

Sanfilippo A

mucopolysaccharidosis type IIIA

Sanfilippo A


Input: By demonstrating that the HACE1-OPTN axis synergistically suppresses growth and tumorigenicity of lung cancer cells, our findings may open an avenue for developing autophagy-targeted therapeutic intervention into cancer.

lung cancer


Input: We observed that the Mcl-1 protein is widely expressed in human sarcoma cell lines of different histological origin (n = 7).

sarcoma

sarcoma


Input: In conclusion, we could not find evidence of association between RGS4, PRODH, COMT and GRK3 genes and bipolar affective disorder 1 in the Scottish population.

PRODH

bipolar affective disorder

PRODH

bipolar affective disorder


Input: At various points before and after the infusion, blood samples were withdrawn and analyzed by means of whole-blood flow cytometry to evaluate expression of inflammation-associated adhesion molecules (CD11b, CD11a, CD49d, and CD62L) and CD14 on the leukocytes.

adhesion


Input: In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband' s clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life.

insulin receptor

leprechaunism

insulin receptor

leprechaunism


Input: Naive CD4 + T cells in blood increased during the initial 2 weeks in parallel with reduced plasma viremia.

viremia


Input: We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF.

eosinophilia


Input: Overexpression of STK15 with coordinate loss of wild-type p53 function thus appears to play an important role in ovarian tumorigenesis and offers a novel molecular target in designing effective therapy of human ovarian cancer.

tumorigenesis


Input: Thus once on the cell surface, LPL-N9 enhances bridging, as assessed both by LDL binding and internalisation, and monocyte adhesion.

LPL

adhesion


Input: COMMD1-deficient dogs progressively develop copper-induced chronic hepatitis.

chronic hepatitis

chronic hepatitis


Input: Moreover, acute thrombosis induced by the i. v. injection of sublethal doses of collagen and phenylephrine produced a smaller fall in the number of circulating platelets in Podxl-null mice than in control mice.

Podxl

thrombosis

Podxl

thrombosis


Input: The child mutated for p. R296G presented with a generally more severe phenotype than the p. S309G carrier (obesity, compulsive eating, neonatal hypotonia versus overweight only), while both mutations had strong loss-of-function effects on SIM1 transcriptional activity.

neonatal hypotonia


Input: In addition, the ME of B. microstachya (3--300 mg kg (-1), i. p., 30 min earlier) inhibited, in a graded manner, the hyperalgesia induced by bradykinin (3. 2 microg/paw), substance P (13. 5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20. 5, 17. 9, 101. 8, 54. 2 and 99. 7 mg kg (-1), respectively.

bradykinin

hyperalgesia

bradykinin

hyperalgesia


Input: Significant pulmonary hypertension developed 3 weeks after the administration of MCT, but gene therapy with CYP2J2 significantly attenuated the development of pulmonary hypertension and pulmonary vascular remodeling, without causing changes in systemic arterial pressure or heart rate.

pulmonary hypertension


Input: In this work we investigated about the presence of a correlation between a (CA) n repeat located in exon 29 of NOS1 gene and the beta-thalassemia trait in Corsica Island (France).

NOS1 gene

beta-thalassemia


Input: Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome.

renal coloboma syndrome

renal coloboma syndrome


Input: Transcriptional silencing of secreted frizzled related protein 1 (SFRP 1) by promoter hypermethylation in non-small-cell lung cancer.

frizzled related protein

lung cancer


Input: In the multiplicative model, from the genetic factors, GSTM1-null and NAT2 * 6B had a statistically significant influence on the risk for CRC, while from the environmental factors, smoking and diet had similar effects.

smoking


Input: These data show that combined MYC activation and Pten loss driven by the Hoxb13 regulatory locus synergize to induce genomic instability and aggressive prostate cancer that phenocopies the human disease at the histologic and genomic levels.

genomic instability


Input: Celecoxib-elicited PPARγ translocation was inhibited by NS-398.

PPARγ

translocation


Input: GM-CSF with biochemotherapy (cisplatin, DTIC, tamoxifen, IL-2 and interferon-alpha): a phase I trial in melanoma.

GM-CSF

melanoma

GM-CSF

melanoma


Input: Therefore we tested TRAIL and Tarolidine (TRD), two substances with apoptogenic properties on human fibrosarcoma (HT1080).

TRD

fibrosarcoma


Input: Mitogen-activated protein kinase kinase 7 (MKK7) induces cardiac hypertrophy by activating the c-Juns NH2-terminal kinases (JNK).

cardiac hypertrophy


Input: HIV-1-specific CD4 + T-cell responses are not associated with significant viral epitope variation in persons with persistent plasma viremia.

viremia


Input: We measured interventricular (difference of QT intervals between LV and RV type leads) and transmural electrocardiographic dispersion of repolarization from 25-lead electrocardiograms in nine asymptomatic KCNQ1 mutation carriers (LQT1) and eight controls during rest, Valsalva maneuver, mental stress, sustained handgrip and supine exercise.

asymptomatic


Input: The analysis of the isotype of the G immunoglobulins raised against the immunodominant determinants of the PSA indicates that both IgG1 and IgG2 classes are produced during natural infections but that the IgG2 predominates over that of the IgG1.

PSA

infections


Input: TNF-α, IL-6, and CRP showed strong correlations with the MetS components and insulin resistance but not relevant predictive values according to ROC curves (AUC values 0. 544-0. 555).

CRP

insulin resistance


Input: Concordantly, the treatment of SMNΔ7 mice with hyperoxia treatment increased the inclusion of SMN2 exon 7 in skeletal muscles and resulted in improved motor function.

hyperoxia


Input: Sufu mutants mice had high Gli activity, due to loss of Sufu, disrupting the regulatory loop and migration of enteric NCCs, leading to defective axonal fasciculation, delayed gut colonization, or intestinal hypoganglionosis.

Sufu

hypoganglionosis


Input: These results suggest that (1) fetal oliguria secondary to indomethacin is mediated through the stimulation of the renal arginine vasopressin V2-receptor and (2) prostaglandin synthesis inhibition may play a role in renal tubular sodium handling.

arginine vasopressin V2-receptor

oliguria

arginine vasopressin V2-receptor

oliguria


Input: Plasma level of TNF-alpha or sTNFR was of little value in predicting the occurrence of early septic shock in ASP.

ASP

septic shock


Input: We investigated the cooperativity of these two pathways in countering cyclin E-induced genomic instability in primary human cells.

cyclin E

genomic instability


Input: Numerous mRNAs and miRNAs in the blood were significantly up-or down-regulated in animals developing pathological changes in the lung after MCA/corn oil administration followed by MWCNT/air inhalation, including fcrl5 and miR-122-5p in the presence of hyperplasia, mthfd2 and miR-206-3p in the presence of fibrosis, fam178a and miR-130a-3p in the presence of bronchiolo-alveolar adenoma, and il7r and miR-210-3p in the presence of bronchiolo-alveolar adenocarcinoma, among others.

bronchiolo-alveolar adenocarcinoma

bronchiolo-alveolar adenocarcinoma


Input: Based on recent studies supporting an increasingly relevant role for the critical vasomodulatory protein endothelial nitric oxide synthase (eNOS) in aneurysm pathobiology, the authors assayed blood from all 197 participants to determine and compare their eNOS genotypes.

endothelial nitric oxide synthase

aneurysm


Input: These findings indicate that during the initiation of R. aurantiacus-induced inflammation, IL-4 deficiency attenuates cytokine responses in macrophages, which contributes to amelioration in mouse survival and reduction of granulomatous inflammation, and augments a hepatic IFN-γ response which transiently accelerates bacterial elimination.

inflammation


Input: Diabetic neonates exhibited a kidney weight-to-body weight ratio higher than that of control rats, together with decreased IGF-I and increased IGF-II renal concentration.

IGF-I

body weight


Input: This study demonstrates, for the first time, that SHIP2 is frequently downregulated in gastric cancer, and reduced SHIP2 expression promotes tumorigenesis and proliferation of gastric cancer via activation of the PI3K/Akt signaling.

tumorigenesis


Input: IL-4 abrogates T (H) 17 cell-mediated inflammation by selective silencing of IL-23 in antigen-presenting cells.

inflammation


Input: The role of the TP53 gene in the development of inherited and sporadic pheochromocytomas and medullary thyroid carcinomas (MTC) has not been clarified because of conflicting reports and limitations in the assays used to detect mutations.

TP53 gene

sporadic


Input: ABH positive tumors were usually diploid, but ABH negative ones were more evenly aneuploid or diploid.

ABH

aneuploid


Input: Prolactin rise after a fall in blood-pressure.

Prolactin

fall in blood-pressure

Prolactin

fall in blood-pressure


Input: Together, these findings provide new insight into the underlying molecular mechanisms of depression and antidepressant action, and support the antidepressant potential of HDAC inhibitors and perhaps other agents that act at the level of chromatin structure.

HDAC

depression

HDAC

depression


Input: In the pooled analysis, there was a significant interaction between smoking, NAT2 genotype, and risk of breast cancer [pack-years (continuous variable, P (interaction) = 0. 03)], with higher pack-years significantly associated with an increased risk of breast cancer among women with NAT2 slow genotypes (pooled analysis relative risk, 1. 49; 95% confidence interval, 1. 08-2. 04).

smoking


Input: Finally, we show that miR-7 introduction inhibits the motility, invasiveness, anchorage-independent growth, and tumorigenic potential of highly invasive breast cancer cells.

invasive breast cancer


Input: The suppression of REV3L expression enhanced the sensitivity of cervical cancer cells to cisplatin, and the overexpression of REV3L conferred resistance to cisplatin as evidenced by the alteration of apoptosis rates, and significantly expression level changes of anti-apoptotic proteins B-cell lymphoma 2 (Bcl-2), myeloid cell leukemia sequence 1 (Mcl-1) and B-cell lymphoma-extra large (Bcl-xl) and proapoptotic Bcl-2-associated x protein (Bax).

Bcl-xl

cervical cancer


Input: Based on the oncogenic role of phosphatidylinositol glycan (PIG) class U in human tumors, we explored the role of two additional subunits of the glycosylphosphatidylinositol (GPI) transamidase complex in human breast cancer.

GPI

tumors


Input: The clinical outcome of contralateral prophylactic mastectomy (CPM) in women with a BRCA1 or BRCA2 mutation and a personal history of invasive breast cancer is unknown.

CPM

invasive breast cancer


Input: Desmoplastic small round cell tumor (DSRCT) is characterized by the presence of a fusion protein EWS/WT1, arising from the t (11; 22) (p13; q12) translocation.

EWS

translocation


Input: Recognized precursor lesions for gastric adenocarcinoma are intestinal metaplasia and spasmolytic polypeptide expressing metaplasia (SPEM), defined here by ectopic CDX2 and TFF2 expression, respectively.

metaplasia


Input: SLCO1B1 * 5 genotype and female sex were associated mild statin-induced side effects.

mild


Input: PRRT2 mutations occur more frequently in familial forms of PRRT2-related syndromes (80-100%) than in sporadic cases (33-46%) suggesting further heterogeneity in the latter.

sporadic


Input: In this study we identified mutations in the DAX-1 gene of two patients with AHC.

AHC

AHC


Input: More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders.

ECM

fibrosis


Input: Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained.

KHK

fructosuria

KHK

fructosuria


Input: In a rat model of pressure-overload hypertrophy, we examined whether activation of MAPK pathways, namely, the extracellular signal-regulated protein kinase (ERK), c-Jun NH (2)-terminal kinase (JNK), and the p38-MAPK pathways, occurs during rapid changes in hemodynamic load in vivo.

JNK

hypertrophy


Input: FSH receptor, KL1/2, P450, and PAPP genes in granulosa-lutein cells from in vitro fertilization patients show a different expression pattern depending on the infertility diagnosis.

FSH receptor

infertility


Input: The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency.

sucrase-isomaltase

congenital sucrase-isomaltase deficiency

sucrase-isomaltase

congenital sucrase-isomaltase deficiency


Input: Moreover, patients with high immunoreactivity of ABHD2 showed low cancer-specific survival rates and a resistance to docetaxel-based chemotherapy.

cancer


Input: The expression of TLR4 in 30 specimens of chronic calculous cholecystitis, 13 specimens of gallbladder adenocarcinoma and 10 specimens of normal gallbladder tissue was determined by immunohistochemistry, western blotting analysis and quantitative RT-PCR.

cholecystitis


Input: After adjustment for age, sex, waist-hip ratio, and mean blood pressure both AdipoR1 and AdipoR2 mRNA remained independent determinants of PWV (R (2) = 0. 35 and R (2) = 0. 57, P < 0. 05).

waist-hip ratio


Input: Two novel UBR1 gene mutations & #305; n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Johanson Blizzard Syndrome

Johanson Blizzard Syndrome


Input: Older age (P =. 007), clinical Stage B or C disease (P <. 001), unmutated immunoglobulin (Ig) VH gene status (P <. 001), genetic abnormalities (P <. 001), positive CD38 status (P <. 001), and type of initial therapy were associated with a significantly shorter time to first infection.

abnormalities


Input: RT-PCR validation confirmed that two miRNAs, miR-497 in SZ samples and miR-29c in BD samples, have significantly increased expression when compared to control samples.

SZ

SZ


Input: The study suggests that an incremental expression of EMT-related genes in CTCs is associated with metastatic castration-resistant cancer.

EMT

resistant cancer


Input: A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.

B-ALL

B-ALL


Input: Here we show decreasing the levels of CTR1 (Cu transporter 1), or mutations in MEK1 that disrupt Cu binding, decreased BRAF (V600E)-driven signalling and tumorigenesis in mice and human cell settings.

tumorigenesis


Input: AdipoR1 and AdipoR2 mRNAs were increased in monocytes of obese controls and T2D patients when compared to normal-weight controls, and AdipoR1 mRNA positively correlated to AdipoR2 mRNA, the waist to hip ratio and systemic adiponectin.

waist to hip ratio


Input: We determined loss of heterozygosity in the patched and p53 loci as well as sequencing the p53 gene in tumors both from sporadic and hereditary cases.

p53 gene

sporadic


Input: Immunophenotypic analyses revealed that blasts were positive for CD19, CD79a, and cytCD22, as well as MPO, CD13, and CD33, fulfilling the diagnostic criteria of mixed phenotype acute leukemia, B/myeloid.

mixed phenotype acute leukemia


Input: In addition, group 3 NB cell lines were different from group 1 and 2, in terms of serum starvation-induced caspase 3 cleavage and picropodophyllin-induced G2/M arrest.

caspase 3

starvation


Input: Various clinicopathologic characteristics of HBCs arising in patients with BRCA1 or BRCA2 germline mutations were compared with those of the control group (sporadic breast carcinomas).

sporadic


Input: This approach revealed a homozygous frameshift mutation, 2470insG, in exon 19 of COL7A1 and resulted in attenuated basement membrane zone expression of type VII collagen, a reduced number of anchoring fibrils at the dermal-epidermal junction, and a sub-lamina densa level of blister formation.

blister


Input: Inactivating mutations of the caspase-10 gene in gastric cancer.

gastric cancer

gastric cancer


Input: The primary PCR amplified CYP21-specific DNA fragments, and the secondary PCR used products from the primary PCR for analysis of amplification-created restriction sites (ACRS) and direct DNA sequencing.

secondary


Input: In this study, we assessed the association between UCP1 genotypes and systolic blood pressure (SBP) and diastolic blood pressure (DBP), in a population comprised of 832 Korean female subjects, using a general linear model, which was adjusted for age and body mass index (BMI).

DBP

systolic blood pressure


Input: We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients.


Input: Since placental trisomy 16 as well as cases with increased alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality.

AFP

chromosomal abnormality


Input: Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first " schizophrenic " episode of psychosis.

psychosis

psychosis


Input: We have reported that overexpression of copper/zinc superoxide dismutase (SOD1) reduced superoxide production and ameliorated neuronal injury in the hippocampal CA1 subregion after global ischemia.

ischemia


Input: Therefore, we hypothesized that BDG consumption improves inflammatory markers and insulin sensitivity in overweight and obese subjects with moderately increased levels of C-reactive protein, indicating subclinical inflammation.

C-reactive protein

insulin sensitivity


Input: Erythropoietin receptor contributes to melanoma cell survival in vivo.

Erythropoietin receptor

melanoma

Erythropoietin receptor

melanoma


Input: Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

myosin VIIA

myosin VIIA


Input: The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB.

EDNRB

pigment


Input: Fluorescence in situ hybridization, loss of heterozygosity testing, and comparative genomic hybridization have been used to detect NF2 gene alterations in both sporadic and neurofibromatosis type 2 (NF2)-associated central nervous system tumors.

NF2 gene

sporadic


Input: Furthermore, we also show that certain families and individuals with CS do not have mutations in the coding sequence of MMAC1.

CS

CS


Input: Angiotensin-converting enzyme (ACE) gene I/D polymorphism, apolipoprotein E (ApoE) gene polymorphism, methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism, and beta fibrinogen (Fgbeta) gene 148C/T polymorphism were analyzed in 100 patients and 100 matched controls.

apolipoprotein E

fibrinogen


Input: Radiovirotherapy of xenograft LNCaP tumors with Ad5/3PB-ADP-hNIS showed the most significant survival extension versus control tumors (p = 0. 001), but the benefit of radiovirotherapy was not statistically significant compared with virotherapy alone in this model.

ADP

tumors


Input: The role of the orphan G protein-coupled receptor 37 (GPR37) in multiple myeloma cells.

multiple myeloma


Input: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

calpain 3

limb-girdle muscular dystrophy type 2A

calpain 3

limb-girdle muscular dystrophy type 2A


Input: Protease-activated receptor (PAR) 2, but not PAR1, signaling promotes the development of mammary adenocarcinoma in polyoma middle T mice.

mammary adenocarcinoma


Input: A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p. (Ala507Ser) and c. 401-1G > A, and we describe eye defects associated with this gene for the first time.

microcephaly


Input: Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NBS; these mutations were confirmed to be de novo when parental samples were available.

NBS

NBS


Input: Our findings demonstrate that DLL4 mutations are an additional cause of autosomal-dominant AOS or isolated ACC and provide further evidence for a key role of NOTCH signaling in the etiology of this disorder.

ACC

ACC


Input: We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three kindreds, but also in some asymptomatic subjects.

CDC73 gene

asymptomatic


Input: This study was designed to investigate the hypothesis that diaphragmatic DES expression is decreased in fetal rats with nitrofen-induced CDH.

DES

CDH

DES

CDH


Input: Recombinant human elafin protects airway epithelium integrity during inflammation.

elafin

inflammation


Input: Inhibition of FLAP (but not inhibition of 5-LO) reduced proteinuria, with no effect on estimated glomerular filtration rate.

proteinuria


Input: LMNA mutations represent the most prevalent genetic DCM cause.

LMNA

DCM

LMNA

DCM


Input: ATRA is not protective but instead aggravates cryoglobulinaemic MPGN and its systemic manifestations in TSLP tg mice.

TSLP

MPGN

TSLP

MPGN


Input: Serial chimerism analyses indicate that mixed haemopoietic chimerism influences the probability of graft rejection and disease recurrence following allogeneic stem cell transplantation (SCT) for severe aplastic anaemia (SAA): indication for routine assessment of chimerism post SCT for SAA.

SAA

aplastic anaemia


Input: The following parameters were monitored: platelets (PLT), fibrinogen (Fib), D-dimer (D-D), activated partial thromboplastin time (APTT), prothrombin time (PT), tumor necrosis factor-a (TNF-a), interferon-g (IFN-g), interleukin-1b (IL-1b), creatinine (Cr), alanine aminotransferase (ALT), creatinine kinase-MB (CK-MB), and endothelin (ET).

fibrinogen


Input: To define the role of BRCA2 in sporadic breast and ovarian cancer, we screened the entire gene for mutations using a combination of techniques in 70 primary breast carcinomas and in 55 primary epithelial ovarian carcinomas.

sporadic


Input: Although adenovirus particles were insensitive to recombinant group V and X sPLA2s, direct addition of these enzymes to 293A cells suppressed both number and size of adenovirus plaque formation.

plaque


Input: We provide evidence that TG2 is an important link in IL-6-mediated tumor aggressiveness, and that TG2 could be an important mediator of distant metastasis, both in a xenograft animal model and in patients with advanced breast cancer.

aggressiveness


Input: The biological activities of LNP-siRNA, including the cellular uptake, CDK4 expression and G (1) cell cycle arrest, in both HeLa cervical cancer and MDA-MB-468 breast cancer cells were evaluated by flow cytometry, confocal microscopy, quantitative reverse transcription PCR (qRT-PCR) and Western blotting, respectively.

LNP

cervical cancer


Input: Interleukin-4 (IL4) is an anti-inflammatory cytokine that may play a role in the inflammation pathology observed surrounding senile plaques, and may also associate with Alzheimer' s disease (AD) pathogenesis.

inflammation


Input: ARB treatment also significantly ameliorated increased glomerular p27 (Kip1) expression in diabetes mellitus as assessed by immunohistochemistry (P < 0. 01).

diabetes mellitus


Input: L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22. 1.

L-2-Hydroxyglutaric aciduria

L-2-Hydroxyglutaric aciduria


Input: Cardiac dysfunction and myocardial hypertrophy of the diabetic rats were associated with increased mRNA and protein expression of iNOS, OBRb, and PKCɛ, while expression of CASQ2, SERCA2a, and FKBP12. 6 was significantly down-regulated.

FKBP12. 6

hypertrophy


Input: In cultured primary lymphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylation of the downstream targets, p38 and ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex.

RHOA

sporadic


Input: Although PTB incidence was significantly higher in patients who developed grade 3-4 neutropenia than in those who did not, PTB was not associated with grade 3-4 diarrhea.

PTB

neutropenia


Input: We suggest that in 2K1C, COX-1 and PGES expression may fail to oppose the effects of renovascular hypertension through reduced prostaglandin signaling in late distal tubule and cortical collecting duct.

PGES

renovascular hypertension


Input: Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2 +-ATPase in myotonic dystrophy type 1.

myotonic dystrophy


Input: We report that autoimmune regulator (Aire), a transcriptional regulator, is inducibly expressed in human and mouse tumor keratinocytes in a K17-dependent manner and is required for timely onset of Gli2-induced skin tumorigenesis in mice.

tumorigenesis


Input: Associations with canonical pathways previously shown to be involved in AD were also observed, such as dehydrogenases 1A (ADH1A), ADH7, aldehyde dehydrogenases 3B2 (ALDH3B2) and cytochrome P450 2A13.

AD

AD


Input: Thus, our data provide new insight into RA pathogenesis and provide evidence that inflammatory cytokines trigger a cytokine amplification loop via IL-6-STAT3 that promotes sustained inflammation and joint destruction.

inflammation

inflammation


Input: We detail here the clinical description and the family genetic study of a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features and a combination of two rare genetic variants: a maternally inherited 16p13. 11-p12. 3 duplication and a de novo 12p12. 1 deletion affecting SOX5.

dysmorphic features


Input: These observations raise the possibility that a regulatory program controlled in inhibitory interneurons by the NPAS1 and NPAS3 transcription factors may be either substantively or tangentially relevant to psychosis.

psychosis

psychosis


Input: Activities of GSH-Px, SOD, and CAT which did not change after exposure to hyperoxia were increased by MT (P < 0. 05).

CAT

hyperoxia


Input: The Conradi-Hünermann-Happle (CHH) syndrome (X-chromosomal dominant chondrodysplasia punctata type II; MIM 302960) is an X-linked dominant disorder that is characterized by ichthyosis, chondrodysplasia punctata, cataracts and short stature.

MIM

ichthyosis


Input: BRCA2 tumors had significantly more frequently low cyclin D1 expression (68%) than sporadic or familial non-BRCA1/2 tumors and significantly more frequently high cyclin E expression than familial non-BRCA1/2 tumors.

sporadic


Input: We previously found that, in patients with a PRKCSH mutation, over 76% of the cysts acquired a somatic' second-hit' mutation in the wild type PRKCSH allele.

PRKCSH

hit


Input: To determine the incidence and genotypes of the calpain 3 (p94) gene mutations in Japanese LGMD patients, we sequenced the gene in 80 patients with clinical characteristics of autosomal recessive or sporadic LGMD.

sporadic


Input: Both TAP1 and TAP2 expression levels in the autologous tumor were minimal, yet were upregulated 7-to 18-fold, respectively, by interferon-gamma.

tumor


Input: There is increasing evidence that BRCA1 and BRCA2 associated tumors may differ from sporadic cancers.

sporadic


Input: We compared immunoreactive protein and relative gene expression of ABCG2 and Bmi-1 in eight cell lines derived from source tissues ranging in disease severity from normal (OKF6-TERT2) through mild and moderate/severe dysplasia (DOK, POE-9n) to OSCC (PE/CA-PJ15, SCC04, SCC25, SCC09, SCC15).

mild


Input: We further demonstrate that overexpression of DSCR1 and ZAKI-4 inhibits calcineurin-dependent gene transcription through the inhibition of NF-AT translocation to the nucleus.

translocation


Input: The effects of Sonic hedgehog (Shh) signaling pathway activation on S-type neuroblastoma (NB) cell lines and its role in NB tumorigenesis were investigated.

Sonic hedgehog

neuroblastoma


Input: Using a model in which rhesus macaques were infected with chimeric simian-human immunodeficiency viruses (SHIVs), we show that both the level of viremia and the structure of the HIV-1 envelope glycoprotein ectodomains individually contributed to the efficiency with which CD4 (+) T lymphocytes were depleted.

viremia


Input: Association between SNPs and autism was only detected for PITX1.

autism

autism


Input: The protumorigenic and fibroinflammatory effects of MyD88 inhibition are mediated by dendritic cells (DCs), which induce pancreatic antigen-restricted Th2-deviated CD4 (+) T cells and promote the transition from pancreatitis to carcinoma.

carcinoma


Input: Fasting adiponectin, leptin, insulin resistance (homeostasis model assessment, HOMA-IR), testosterone, estradiol, sex hormone binding globulin (SHBG), LH and FSH were determined in 144 newly-diagnosed histologically confirmed breast cancer patients and 77 controls.

SHBG

insulin resistance


Input: BRCA2-defective cells show a high degree of chromosome instability.

chromosome instability


Input: This pilot phase II study was designed to determine the efficacy, toxicities, and biological activity of multiple hepatic arterial injections of recombinant adenovirus p53 (rAd-p53) and 5-fluorouracil (5-FU) after transcatheter arterial chemoembolization (TACE) when compared with TACE alone in patients with unresectable hepatocellular carcinoma (HCC).

HCC

unresectable hepatocellular carcinoma


Input: The remaining 3 probands with GNRHR mutations were from a subgroup of 18 patients without evidence of familial involvement, indicating a prevalence of 3 of 18 (16. 7%) in patients with sporadic IHH and a normal sense of smell.

GNRHR

sporadic


Input: The use of human zymogen protein C in our patient with heterozygous protein C deficiency during the perioperative period of a THA was associated with no evidence of excessive bleeding, hematoma, deep venous thrombosis, or pulmonary embolism.

protein C

hematoma


Input: Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.

BLK

systemic lupus erythematosus

BLK

systemic lupus erythematosus


Input: Thus, resistance of Pin1 KO mice to hepatic steatosis is partially attributable to the lack of Pin1-induced down-regulation of peroxisome proliferator-activated receptor α, although multiple other mechanisms are apparently involved.

hepatic steatosis


Input: Here, we describe length of the short tandem repeat aromatase (CYP19A1) polymorphism and its relationship to increased weight and sperm count.

increased weight


Input: Hypoxic-ischemic injury, which mimics stroke, has been shown to result in changes in connexins (Cxs), however, changes in Cxs have not been studied in the P10 hypoxia model.

stroke


Input: The DNA repair enzyme XRCC1 is a potential treatment predictor for the outcome and survival of anthracycline and cyclophosphamide/methotrexate/5-fluorouracil-based chemotherapy of invasive breast cancer.

DNA repair enzyme

invasive breast cancer


Input: We conclude that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.

AURKC

polyploid


Input: In this study, 12 sporadic SSC were assessed for the presence of allelic deletions on the p53 and BRCA1 gene loci.

sporadic


Input: Placental growth factor is rapidly produced in infarct myocardium, especially by endothelial cells during the acute phase of myocardial infarction.

Placental growth factor

infarct


Input: In the present study we investigated the diagnostic and prognostic significance of alterations in expression of EB1 in oral cancer.

oral cancer


Input: Laminin & #947;-1 was decreased in MV and increased in M. In conclusion, similarities and differences in oxidative stress in the different aortopathies studied including pathologies with aneurysms were found with alterations in SOD, CAT, GPx, GST, and eNOS activity that modify subendothelial basement membrane proteins.

SOD

MV

SOD

MV


Input: Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.

Budd-Chiari Syndrome

Budd-Chiari Syndrome


Input: Significant CD4 recover and HIV viremia suppression were reached in a mean period of three to six months in all treated patients.

viremia


Input: Our study shows that PPP2R2C is downregulated in glioma cells and human brain cancer patient samples.

glioma


Input: Using microglial BV2 cells, we demonstrate that hypoxia induces the expression, translocation, and release of CIRP, which is associated with an increase of TNF-α levels.

TNF-α

translocation


Input: In pancreatic cancer cells constitutively expressing mda-7/IL-24 mRNA, a single treatment with arsenic trioxide, HPR or NSC656240 induces apoptosis, which correlates with production of MDA-7/IL-24 protein.

pancreatic cancer

pancreatic cancer


Input: Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.

colorectal cancer

colorectal cancer


Input: Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

factor VIII

translocation


Input: The TNC signaling pathway plays an important role in mammary tumor growth and metastases, suggesting that TNC may be a relevant target for therapy against metastatic breast cancer.

TNC

mammary tumor


Input: Additive effect of the mutations in the beta3-adrenoceptor gene and UCP3 gene promoter on body fat distribution and glycemic control after weight reduction in overweight subjects with CAD or metabolic syndrome.

weight reduction


Input: In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c. 305 & #160; A & #160; & gt; & #160; G, p. Asp102Gly; and c. 2626delG, p. Val876Tyrfs * 16) were identified in the compound heterozygous state, thus broadening the mutational spectrum of the disease.

MOTA

MOTA


Input: Functional annotation clustering based on whole-genome expression profiling revealed pathways upregulated in PD-L1 (+) melanomas, involving immune cell activation, inflammation, and antigen processing and presentation.

inflammation


Input: The increases in NK-3R mRNA in the cerebellum point to the development of receptor supersensitivity and suggest a functional role of NKB in this animal model of epilepsy.

NKB

epilepsy


Input: In contrast, there were low levels of EGFR expression in chronic cervicitis (1/10) and low-grade CIN (7/16).

EGFR

chronic cervicitis


Input: Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.

CD40 ligand

X-linked immunodeficiency with hyper-IgM

CD40 ligand

X-linked immunodeficiency with hyper-IgM


Input: Mutations in PTF1A cause pancreatic and cerebellar agenesis.

pancreatic and cerebellar agenesis

pancreatic and cerebellar agenesis


Input: Vascular endothelial growth factor (VEGF) polymorphism is associated with treatment resistant depression.

Vascular endothelial growth factor

treatment resistant depression

Vascular endothelial growth factor

treatment resistant depression


Input: Our data indicate that resveratrol modulates the effect of MED28 on cellular migration, presumably through the EGFR/phosphatidylinositol 3-kinase (PI3K) signaling pathway, in breast cancer cells.

breast cancer

breast cancer


Input: In patients with hippocampal sclerosis, the number of cells expressing sst2 receptor mRNA as well as sst2 receptor-binding sites and immunoreactivity decreased significantly in the CA1-3, reflecting neuronal loss.

hippocampal sclerosis


Input: The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).

conduct disorder


Input: Association between + 936 C > T gene polymorphism of vascular endothelial growth factor and lung cancer: a meta-analysis.

T gene

lung cancer


Input: Here we discuss emerging concepts concerning nm23, such as its varied pattern of alteration/expression in tumor metastasis, its effect on tumorigenesis, and its possible biochemical functions.

tumorigenesis


Input: In this double-blind multicentre phase II trial patients with wild-type BRAF melanoma were randomized (1: 1) to docetaxel with selumetinib or placebo.

BRAF

blind


Input: In this study, 67 sporadic CRC and eight samples of normal bowel were analysed for MSI status (by SSCP) and levels of MLH1, MSH2 and p53 gene transcription (by RT-PCR and scanning densitometry).

sporadic


Input: We genotyped 23 single nucleotide polymorphisms (SNPs) in the PDYN and OPRK1 genes in 816 alcohol-dependent subjects and investigated their association with: (1) negative craving measured by a subscale of the Inventory of Drug Taking Situations; (2) a self-reported history of depression; (3) the intensity of depressive symptoms measured by the Beck Depression Inventory-II.

depressive symptoms


Input: Previously, we reported a strong evidence of linkage between D2S171 microsatellite marker (located in vicinity of FKBP1B gene) and susceptibility to autoimmune thyroid diseases (AITDs).

FKBP1B gene

thyroid diseases


Input: The tumor suppressor EAF2 is regulated by androgen signaling and associated with prostate cancer.

prostate cancer


Input: The tumour suppressor gene phosphatase and tensin homologue deleted from chromosome 10 (PTEN) located on chromosome 10q23 plays an important role in different cancer, but its relevance for MPM is unclear.

tensin

cancer


Input: We further show that deletion of a single retinoic acid receptor alpha (Rara) allele in a Trim24-null background suppresses HCC development and restores wild-type expression of retinoic acid-responsive genes in the liver, thus demonstrating that in this genetic background Rara expresses an oncogenic activity correlating with a dysregulation of the retinoic acid signaling pathway.

HCC

HCC


Input: Owing to the role of the nuclear phosphoprotein p53 in the regulation of neurodegeneration and neurodevelopmental processes, some authors have suggested TP53 as a candidate gene for schizophrenia and/or the neurocognitive deficits commonly observed in these patients.

neurodegeneration


Input: CONCLUSIONS: Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.

atopy


Input: Complete sequencing of the two Mn-SOD expression forms unambiguously characterizes this enzyme from a tumor cell line providing evidence that can be used for generation of antibodies and allowing conformational studies.

Mn-SOD

tumor

Mn-SOD

tumor


Input: We studied the association of 11 ADIPOQ single-nucleotide polymorphisms (SNPs) with common and internal carotid intima media thickness (cIMT), presence of coronary artery calcification (CAC), and CAC scores (in those with CAC) in 2, 847 participants in the Multi-Ethnic Study of Atherosclerosis (MESA).

CAC

coronary artery calcification


Input: Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

fumarylacetoacetase

tyrosinemia type 1

fumarylacetoacetase

tyrosinemia type 1


Input: The absence of complete schwannomin/merlin in almost 60% of primary sporadic meningiomas seems to be an important factor in meningioma tumorigenesis.

schwannomin

sporadic


Input: Our findings suggest that IL-6 is increased as a result of adipose deposition and CD4 (+) cell inflammation in lymphedema.

lymphedema


Input: Although Kir6. 1 is also present in atrial tissue, it is unknown whether this channel modulates atrial repolarization and hence whether the S422L mutation portends a greater risk of atrial arrhythmias.

Kir6. 1

atrial arrhythmias


Input: To examine the frequency distribution of the Ser680Asn polymorphism of the follicle-stimulating hormone receptor (FSHR) gene in ovarian dysfunction (OD) infertile women, " poor responders " (PR) and " good responders " (GR).

FSHR

infertile


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

CLCNKB

body mass index


Input: In a Cox proportional hazards model including age, sex, race, diabetes, critical limb ischemia, redo (vs primary) bypass, vein type, and baseline C-reactive protein level, the p27 (Kip1)-838AA genotype was significantly associated with higher graft patency (hazard ratio for failure, 0. 4; 95% confidence interval, 0. 17-0. 93).

diabetes


Input: To explain the focal lesions that affected different organs and tissues the " double hit " theory has been proposed (germinal mutation plus somatic mutation on PKD1 or PKD2).

hit


Input: This is the first report of a germline mutation of the MEN1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.

MEN1 gene

hyperactivity


Input: Previously, we mapped the 12-O-tetradecanoylphorbol-13-acetate (TPA) skin tumor promotion susceptibility locus, Psl1, to distal chromosome 9 in crosses of sensitive DBA/2 mice with relatively resistant C57BL/6 mice.

skin tumor


Input: Molecular analysis by PCR sequencing of the promoter, the 5' untranslated region (UTR) and exons of both GCK and HNF1A genes was carried out in two families with clinically diagnosed dominant diabetes mellitus.

UTR

diabetes mellitus


Input: Autotaxin expression was up-regulated by treatment with TNFalpha (insulin resistance-promoting cytokine), and down-regulated by rosiglitazone treatment (insulin-sensitising compound) in 3T3F442A adipocytes.

Autotaxin

insulin resistance


Input: We confirmed the association of hypomorphic variants of MCP and CFI in a cohort of non-autoimmune preeclampsia patients in which five of 59 were heterozygous for mutations.

MCP

preeclampsia


Input: Reversal of P-glycoprotein-mediated multi-drug resistance by the E3 ubiquitin ligase Cbl-b in human gastric adenocarcinoma cells.

E3 ubiquitin ligase

gastric adenocarcinoma


Input: Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants.

prostacyclin synthase

patency of the ductus arteriosus

prostacyclin synthase

patency of the ductus arteriosus


Input: In the family study, evidence for association (p < 0. 0005) was found regarding several genes (NAV2, EFCAB11/TDP1, AGBL1, PTPN9, LINGO1 and LOC730118), with the strongest association at rs4143999 near EFCAB11/TDP1 (p = 0. 00001 for carotid presence and 0. 00003 for plaque area, multiple testing corrected p ≤ 0. 02).

plaque


Input: The expression of CCL-checkpoint and DNA damage response genes: MDM4, ATM and ATR was strongly upregulated and associated with progression of dementia (cognitive dementia rating, CDR), appearing as early as questionable or mild dementia (CDRs 0. 5-1).

ATR

dementia


Input: Using an in situ hybridization technique we have also studied the expression of monocyte chemoattractant protein 1 (MCP-1), RANTES and interleukin (IL)-8 chemokines mRNA in leprosy skin lesions.

leprosy


Input: In conclusion our study can at least partly replicate the previous findings concerning the impact of SNAP-25 gene polymorphisms on weight gain during antipsychotic treatment.

weight gain


Input: In slices from post-ischemia animals, CA1 neurons with robust action potentials exhibit greatly enhanced AMPA-elicited rises in intracellular Ca (2 +).

ischemia


Input: In addition, we review the pathophysiology, epidemiology, and extracutaneous manifestations of AAT disease and propose a diagnostic algorithm for ulcerative panniculitis.

AAT

ulcerative


Input: The antinociception caused by the mixture of compounds seems to involve mechanisms independent of opioid, alpha-adrenergic, serotoninergic, and nitrergic system mediation, since it was not affected by naloxone, prazosin, yohimbine, DL-p-chlorophenylalanine methyl ester, or L-arginine. Interestingly, the i. p. administration of alpha, beta-amyrin reduced the mechanical hyperalgesia produced by i. pl. injection of carrageenan, capsaicin, bradykinin, substance P, prostaglandin E2, 8-Br-cAMP, and TPA in rats.

substance P

mechanical hyperalgesia

substance P

mechanical hyperalgesia


Input: SR-A1 is a human high-molecular-weight SR-related CTD-associated factor that links the machineries of transcription and mRNA splicing.

weight


Input: This study aimed to investigate whether LSD1 in metastasized MRMT-1 breast cancer cells in bone marrows participated in the production of endogenous formaldehyde in bone cancer pain rats.

cancer pain


Input: These diabetic cardiomyopathy-associated alterations were significantly attenuated (P & lt; 0. 05) in diabetic transgenic rats expressing the human kallikrein 1 (hKLK1) gene with STZ-induced diabetes.

diabetic cardiomyopathy

diabetic cardiomyopathy


Input: Mice infected with murine rotavirus (strain EDIM) accumulated NO2/NO3 in the urine at the onset for diarrhoea.

diarrhoea


Input: As both the immune system and the blood-brain barrier (BBB) are likely to be developmentally immature in the perinatal period, neonatal gene transfer may be useful for the treatment of lysosomal storage disease (LSD) with neurological involvements such as metachromatic leukodystrophy (MLD).

LSD

metachromatic leukodystrophy


Input: We established mouse models, expressing the costimulator molecule B7. 1 (CD80) on pancreatic beta cells (RIP-B7. 1 tg mice) or are deficient in coinhibitory PD-L1 or PD-1 molecules (PD-L1 (-/-) and PD-1 (-/-) mice), to study induction of preproinsulin (ppins)-specific CD8 T-cell responses and experimental autoimmune diabetes (EAD) by DNA-based immunization.

autoimmune diabetes


Input: Role of protein kinase C activation in synthesis of complement components C2 and factor B in interferon-gamma-stimulated human fibroblasts, glioblastoma cell line A172 and monocytes.

factor B

glioblastoma


Input: A search for expressed sequences within the contig have so far revealed one CpG island, seven anonymous ESTs and three previously characterised genes, DAD-R, KRAG and HT21, all of which were found not to be directly disrupted by the translocation.

DAD-R

translocation


Input: Sod2 and catalase overexpressing HT-1080 fibrosarcoma cell lines were used to evaluate the H (2) O (2)-dependent regulation of matrix metalloproteinase (MMP)-1 promoter activity, mitogen-activated protein (MAP) kinase signaling, DNA-binding activity, and MMP mRNA levels.

fibrosarcoma


Input: It is possible that the amplification of ODC genes in Ehrlich ascites-carcinoma cells in response to 2-difluoromethylornithine (DFMO) was associated with hypomethylation, or that less-methylated genes were amplified.

ODC

carcinoma


Input: Interestingly, multinucleate giant cells were frequently observed in granulomas in CCR2-/-mice, whereas they rarely appeared in CCR2 +/+ mice.

granulomas


Input: Although considerable controversy remains regarding its pathogenesis, TDI-induced asthma is an inflammatory disease of the airways characterized by airway remodeling caused, at least in part, by an excess of extracellular matrix deposition in the airway wall.

TDI

inflammatory disease


Input: Overexpression of COX-2 in papillomas seems to be a consequence of enhanced EGFR--& gt; phosphatidylinositol 3-kinase signaling.

papillomas

papillomas


Input: A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.

neonatal-onset multisystem inflammatory disease

neonatal-onset multisystem inflammatory disease


Input: Cathepsin K knockout mice and their wild-type littermates were subjected to abdominal aortic constriction, resulting in cardiac remodeling (heart weight, cardiomyocyte size, left ventricular wall thickness, and end diastolic and end systolic dimensions) and decreased fractional shortening, the effects of which were significantly attenuated or ablated by cathepsin K knockout.

cathepsin K

constriction


Input: We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of PCR products, initial symptoms were the onset of slowly progressive spastic paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes.

GALC

progressive spastic paraplegia


Input: A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p. (Ala507Ser) and c. 401-1G > A, and we describe eye defects associated with this gene for the first time.

seizures


Input: ALK/CNG, but not translocation of ALK, is present in HCC and may be an unfavorable prognostic predictor.

HCC

translocation


Input: Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

EDA

Hypohidrotic Ectodermal Dysplasia

EDA

Hypohidrotic Ectodermal Dysplasia


Input: PON1 also plays a key role in prevention of atherosclerosis.

atherosclerosis

atherosclerosis


Input: Interestingly, immunofluorescence analysis evidenced that endometrioid adenocarcinoma tissues displayed, similarly to AN3CA cells, also a GRP78 plasma membrane localization.

endometrioid adenocarcinoma


Input: Topical application of HAFi caused marked epidermal hyperplasia in wt but not in CD44-/-mice, and significant skin thickening in patients with age-or corticosteroid-related skin atrophy.

skin thickening


Input: Glut1 staining was present in the epidermis of 8 of 15 scars (53%) but was not detected in any BCC, even in areas of focal keratinization and squamous metaplasia.

scars


Input: Finally, we have found that HA content, HA molecular weight, HAS2 mRNA level, and CD44 expression were significantly decreased in DSCs from unexplained miscarriage compared with the normal pregnancy.

miscarriage


Input: Data mining analysis generated a predictive model for anemia (hemoglobin (Hb) concentration < 10 g/dl); the CC genotype of ITPA, baseline Hb < 14. 0 g/dl, and low creatinine clearance (CLcr) were predictors of anemia.

CLcr

anemia


Input: Common allelic variations have now been associated with bone density for the estrogen receptor, TGF beta receptor, and TGF beta 1, for the insulin-like growth factor-I pathway, for interleukin-4 and-6 and the interleukin-1 receptor antagonist, for calcitonin and the PTH receptors and for apolipoprotein E. Of considerable interest, chromosomal loci, notably 11q 12-13, have now been linked to bone phenotypes in human and mouse studies.

apolipoprotein E

bone density


Input: These data suggest that CA9 may be involved in the development of HCC by contributing to the survival of hepatocytes infected with HBV in liver tissue with fibrosis.

HCC

fibrosis


Input: Overall, abnormalities of the CDKL5 gene accounted for 16. 3% (8 of 49) of patients.

CDKL5 gene

abnormalities


Input: Five additional cases were diagnosed with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and 10 patients with AID were referred from other adult departments.

AID

aphthous stomatitis


Input: Cox regression showed that Cripto-1 might be an independent prognostic factor for recurrence/metastasis-free survival (P = 0. 036).

regression


Input: Subsequently, selective ablation of human GSC-derived VE-cadherin-expressing cells attenuated vascular formation in mouse intracranial tumors, thereby significantly prolonging mouse survival.

GSC

intracranial tumors


Input: These data suggest that estrogen-mediated suppression of PTPRO is probably one of the early events in estrogen-induced tumorigenesis and that expression of PTPRO could facilitate endocrine therapy of breast cancer.

PTPRO

tumorigenesis


Input: In gastric adenocarcinoma tissues, nuclear PDCD4 expression was decreased, while cytoplasmic PDCD4 expression was unchanged or somewhat increased.

gastric adenocarcinoma


Input: The purpose of the study was to determine if the tumor suppressor gene phosphate and tensin homolog (PTEN) (mutated in multiple advanced cancers 1) in combination with Gleason scoring and serum prostate specific antigen (PSA) could be employed to better predict the progression of prostate carcinoma.

tensin

cancers


Input: After adjustment for the covariates of age, gender, smoking, alcohol use, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), triglyceride (TG), and total cholesterol (TC), the diabetic protective effect of the rs2283171-G allele remained.

DBP

systolic blood pressure


Input: PURPOSE: The aim of the present study was to investigate associations between the renin gene (REN) and the risk of essential hypertension and blood pressure (BP) levels in Koreans.

REN

blood pressure


Input: The promoter activity of the VEGF gene, which contains five SP-1 binding sites and one AP-1 binding site but not hypoxia regulatory elements, was enhanced by bFGF or TNF-alpha but not by hypoxia.

hypoxia


Input: In the kindreds showing linkage to the MCKD2 locus on chromosome 16p12, mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing.

UMOD

UMOD


Input: C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.

motor deficits


Input: The SGPP1, weakly expressed in healthy endometrium, is up-regulated in endometriosis-affected women (11. 9-and 64. 7-fold, respectively), but its expression remains low.

endometriosis


Input: This finding suggested us that the cytokines IL-1α and IL-6 play a role on aggressive behaviour of ameloblastomas and keratocystic odontogenic tumors by making easy bone resorption.

aggressive behaviour


Input: The ACTH receptor (ACTH-R) has recently been cloned, allowing systematic evaluation of its expression and function in adrenal tumorigenesis.

ACTH receptor

tumorigenesis


Input: Mounting evidence indicates increased susceptibility to cell death and increased oxidative damage as common features in neurons from sporadic Alzheimer' s disease (AD) patients but also from familial AD (FAD) cases.

FAD

sporadic


Input: In men, 24-h systolic blood pressure (SBP) and diastolic blood pressure (DBP) values, daytime SBP and DBP values, and nighttime SBP and DBP values were significantly higher in IVS5 + 169T allele carriers than C allele carriers.

DBP

systolic blood pressure


Input: This study shows no proatherogenic effects of adenovirus-mediated gene transfers of VEGF-A,-B,-C, or-D in the LDLR/apoB48-deficient hypercholesterolemic mice, in which lipoprotein profile and atherosclerosis closely resemble those in human disease.

LDLR

adenovirus


Input: In conclusion, Folbp1 and RFC1 genetically modified mice exhibit distinct changes in colonocyte phenotype and therefore have utility as models to examine the role of folate homeostasis in colon cancer development.

colon cancer

colon cancer


Input: Three other IA-2 epitope peptides are 71-100% similar over 7-12 aa to herpes, rhino-, hanta-and flaviviruses.

herpes


Input: This study examined whether mediators from biopsies of human irritable bowel syndrome (IBS) colons alter intrinsic excitability of colonic nociceptive dorsal root ganglion (DRG) neurons by a protease activated receptor 2 (PAR2)-mediated mechanism.

DRG

irritable bowel syndrome


Input: However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition.

SOD

SOD


Input: Fluorescence in situ hybridization analysis revealed amplification of MYB in 5 (29%) of 17 BRCA1 breast tumors, whereas none of 8 BRCA2 tumors and 13 breast cancer cell lines, and only 2 of 100 sporadic breast tumors exhibited altered MYB copy numbers.

sporadic


Input: CYP2E1 c1/c1, DD and NAT2 slow acetylation, especially combined with smoking, contributes to the development of lung cancer.

smoking


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: Our study shows that-26 5' UTR polymorphism in BRCA2 can modulate the fine-tuned regulation of the multifunctional gene BRCA2 and renders risk or protection according to the genotype status in the sporadic form of breast cancer, which is further influenced by the germline genetic backgrounds of codon 72 polymorphism of p53.

sporadic


Input: To determine whether sporadic (non-NF) cases of meningioangiomatosis arise from somatic alterations of the same gene, we screened the NF2 gene for mutations in 12 sporadic cases of meningioangiomatosis and in constitutional DNA from 6 of these 12 patients.

NF2 gene

sporadic


Input: A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

hyper-IgE syndrome

hyper-IgE syndrome


Input: BR males are also moderately susceptible, and the susceptibility of both sexes of BR mice to liver tumors induced with N, N-diethylnitrosamine relative to the resistant C57BL/6J (B6) strain is caused by two loci designated Hcf1 and Hcf2 (hepatocarcinogenesis in females) located on chromosomes 17 and 1, respectively.

liver tumors

liver tumors


Input: These were rather focused and consistent with amplifications frequent in patient samples, involving the genes platelet-derived growth factor receptor A (PDGFRA), cysteine-rich hydrophobic domain 2 (CHIC2), FIP-like 1 (FIP1L1), ligand of numb-protein X1 (LNX1), RAS-like family 11 member B (RASL11B), and sec1 family domain containing 2 (SCFD2), probably a sign of continued tumor progression.

tumor progression


Input: Fifty-eight patients diagnosed with PD-related LRRK2 G2019S mutation were included in the study and compared with 54 sporadic PD patients with negative tests for LRRK2 G2019S, PINK1, SNCA, PRKN, and DJ1 mutations.

sporadic


Input: Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children.

ERG

rod-cone dystrophy


Input: Putative pathogenic CPVT1-causing mutations in RyR2 were detected in 6% of unrelated, genotype-negative LQTS referrals.


Input: The median (interquartile range) HD5 mRNA level was 6. 0 (5. 6-6. 7) log10 transcripts/microg of total RNA among 18 participants who experienced diarrhea within 2 months after biopsy-sample collection, compared with 6. 8 (6. 2-7. 3) log10 transcripts/microg of total RNA among 94 participants who did not (P =. 006).

diarrhea


Input: The TP53 gene status was first investigated in a series of 35 BRCA1 BLCs using immunohistochemistry, direct sequencing of the coding sequence, and functional analysis of separated alleles in yeast, and compared with the TP53 status in a series of 38 sporadic (nonhereditary) BLCs.

sporadic


Input: The creation of a fusion between EWSR1 and an ETS family gene consecutive to a chromosomal translocation is characteristic of the Ewing family of tumors (EFT).

chromosomal translocation


Input: In vitro experiments indicated that salusin-β directly enhances the expression levels of proinflammatory molecules, including VCAM-1, MCP-1, IL-1β, and NADPH oxidase 2, as well as THP-1 monocyte adhesion to cultured human umbilical vein ECs (HUVECs).

salusin-β

adhesion


Input: These results suggest a possible role of TAAR6 in antidepressant response and suicide behavior in patients with depressive disorder.

depressive disorder

depressive disorder


Input: The administration of IFN-γ instead of Th1 cells caused AHR elevation but not neutrophilia, and remarkably induced neurokinin-2 receptor (NK2R) expression along with neurokinin A (NKA) production in the lung.

IFN

neutrophilia


Input: Induction of POMC/α-melanocyte-stimulating hormone (α-MSH) activates the melanocortin 1 receptor (MC1R), resulting in skin pigmentation.

POMC

skin pigmentation


Input: The present study is the first to indicate that the polymorphism of PTH/PTHrP receptor gene is closely related to the extent of bone mass reduction in pHPT and that this polymorphism would be one of the genetic factors responsible for the severity of the pathological state of pHPT.

PTH/PTHrP receptor

bone mass


Input: MOF was induced by peritoneal injection of zymosan (500 mg/kg i. p. as a suspension in saline) in 5-LOWT and in 5-LOKO mice.

MOF

MOF


Input: The milder forms, especially adult and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner depending on the effect that the & lt; i & gt; ALPL & lt;/i & gt; pathogenic variant has on TNSALP activity.

TNSALP

odontohypophosphatasia

TNSALP

odontohypophosphatasia


Input: We examined the sequential expression of hyperplasia, micronucleated cells, ornithine decarboxylase (ODC) activity, polyamine levels, transglutaminase I activity, epidermal growth factor receptor (EGF-R) levels, keratins, gamma-glutamyltranspeptidase (GGT), transforming growth factor-beta 1 (TGF-beta 1), leukoplakia, and carcinomas induced during carcinogenesis.

ODC

carcinomas


Input: Rescuing nerve injury-induced reduction of Kv1. 2 in the injured L5 DRG attenuated the development and maintenance of SNL-induced pain hypersensitivity without affecting acute pain and locomotor function.

DRG

acute pain


Input: Together, we show that the GluR2 gene is embedded into an open chromatin configuration in glioma cells and expression of GluR2 is controlled by REST and Sp1.

glioma


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Until recently, modulating CFTR dysfunction was only a research aspiration, however, greater focus placed upon addressing the primary defect of CF has developed several clinical therapeutic strategies in this area.

CFTR

aspiration


Input: Moreover, the treatment of CL1-5 cells with EGCG caused downregulation of c-Jun N-terminal kinase (JNK), resulting in repression of the translocation of transcriptional factors, Sp1, and NF-κB, from the cytosol into the nucleus.

translocation


Input: The results here and those published previously indicate that the Weissenbacher-Zweym & #252; ller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.

heterozygous OSMED

heterozygous OSMED


Input: Recombinant OPN was found to induce translocation of p65 into the nucleus of HCC cells and activation of MMP-2 and MEK/ERK/1/2, which were suppressed by the nuclear factor kappaB (NF-kappaB) inhibitor pyrrolidine dithiocarbamate.

HCC

translocation


Input: Forced expression of TRAF2DeltaN in HHMSX highly metastatic melanoma cells that lack Fas expression and thus utilize the TNFalpha-TNFR1 as the major apoptotic pathway sensitized cells to UV-induced apoptosis.

metastatic melanoma


Input: We tested the hypothesis that the DRD2 Taq IA polymorphism modifies the effects of lead and hemoglobin on intelligence quotient (IQ) among children.

hemoglobin


Input: Thus, combined expression of MYC, EGFR and FGFR2 is predictive of poor survival in CF-treated metastatic gastric cancer patients.

EGFR

gastric cancer

EGFR

gastric cancer


Input: The levels of platelet GPVI were similar in symptomatic and asymptomatic VWD patients (109. 6 +/-58. 4 vs 114. 1 +/-52. 5, respectively; p: 0. 77).

GPVI

asymptomatic


Input: AIM: The aim of our study was to evaluate the association between the p53 codon 72 polymorphism and the oral cancer risk in Chinese Han patients.

AIM

oral cancer


Input: We therefore analyzed the expression of the PcG genes (EZH2, BMI-1, EED, SUZ12) in relation to that of the nephric-progenitor genes (WT1, PAX2, SALL1, SIX2, CITED1) using real-time polymerase chain reaction and methylation assays during renal development, regeneration, and tumorigenesis.

tumorigenesis


Input: Together, we identified a novel p53-RNPC1 autoregulatory loop, and our findings suggest that RNPC1 plays a role in tumorigenesis by repressing p53 translation.

tumorigenesis


Input: In this respect, a patient cohort (from HTLV-1 endemic region) consisting of seronegative controls (controls), asymptomatic carriers (ACs), and patients with adult T-cell leukemia (ATL) or HTLV-associated myelopathy/tropical spastic paraparesis (HAM/TSP) was analyzed for CD8 (+) T cells polyfunctionality in response to the viral antigen Tax.

tropical spastic paraparesis


Input: Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

Usher syndrome type 1

Usher syndrome type 1


Input: These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.

Best macular dystrophy

Best macular dystrophy


Input: We reviewed and summarized by a meta-analytic approach the evidence from the literature on the interaction of smoking with the five most studied gene polymorphisms (GSTM1, GSTT1, mEH3, mEH4, NAT2).

smoking


Input: Cyclin E also tended to predict the benefit from radiotherapy with a local recurrence rate of 0. 31 (RT vs. CMF; 95% CI, 0. 12-0. 83) for patients with low expression and 0. 68 (RT vs. CMF; 95% CI, 0. 2-2. 32) for patients with high expression of cyclin E. When the p53 status was taken in consideration the results showed that patients with both normal p53 and normal Rb expression had considerably lower locoregional recurrence rate when treated with radiotherapy instead of CMF (RR = 0. 17; 95% CI, 0. 052-0. 58) as compared to patients with either altered Rb or p53 or both (RR = 0. 70; 95% CI, 0. 28-1. 73).

cyclin E

locoregional recurrence


Input: In conclusion, the SIRT1 gene may play an important role in the pathophysiology of schizophrenia in the Japanese population.

schizophrenia

schizophrenia


Input: We studied the effects of streptozotocin induced diabetes on infarct size and HIF-1 alpha gene expression.

alpha gene

infarct


Input: In conclusion, the current study provides a new sight for the regulatory pattern of miRNA-214 and TFAM in cervical cancer in vitro, indicating that miRNA-214 and MTFA may become important candidates for developing promising therapeutic strategies for the treatment of cervical cancer.

TFAM

cervical cancer


Input: Lysophosphatidic acid (LPA) is one of the major growth factors in ascites from ovarian cancer patients and appears to play an important role in proliferation, survival, and invasion of ovarian cancer cells.

LPA

ascites


Input: By performing systematic biochemical and bioinformatical analyses, we identified two miR-221 targets, HECTD2 and RAB1A, which could mediate the development of CRPC phenotype in multiple prostate cancer cell lines.

prostate cancer


Input: To the best of our knowledge, this is the first report which shows the involvement of PKC epsilon, DGK eta, Tnfaip, and Rho kinase in the liver of type 2 diabetic rats and its association with diabetic nephropathy.

DGK eta

diabetic nephropathy

DGK eta

diabetic nephropathy


Input: Altogether, our data in this Z-12 cell model suggest that the beneficial effects of treatment with progestin observed in endometriosis patients might arise from decreased pre-receptor metabolism of the protective progesterone by the SRD5A1 and AKR1C enzymes.

endometriosis

endometriosis


Input: Univariate analysis revealed higher frequencies of DR2 (odds ratio [OR], 4. 8; 95% confidence interval [CI], 1. 2-18. 8) and DR5 (OR, 7. 5; 95% CI, 1. 5-37. 5) but lower frequencies of DR4 (OR, 2. 3; 95% CI, 1. 1-4. 9) and DR6 (OR, 2. 8; 95% CI, 1. 4-5. 8), in rubella vaccinees compared with placebo recipients with arthropathy.

arthropathy


Input: Expression of p53 in arsenic-related and sporadic basal cell carcinoma.

sporadic


Input: We enriched and re-sequenced continuous genomic regions comprising FTO, MC4R, TMEM18, SDCCAG8, TKNS, MSRA and TBC1D1 in a screening sample of 196 extremely obese children and adolescents with age and sex specific body mass index (BMI) ≥ 99th percentile and 176 lean adults (BMI ≤ 15th percentile).

body mass index


Input: Double-hit lymphoma (DHL) has been defined by others as a B-cell lymphoma with MYC/8q24 rearrangement in combination with a translocation involving another gene, such as BCL2, BCL3, or BCL6.

translocation


Input: Porphobilinogen deaminase mutants that cause acute intermittent porphyria have been investigated as recombinant proteins expressed in Escherichia coli, yielding important insight into the mechanism of dipyrromethane cofactor assembly and tetrapyrrole chain polymerization.

Porphobilinogen deaminase

acute intermittent porphyria

Porphobilinogen deaminase

acute intermittent porphyria


Input: Crouzon craniostenosis [MIM 123500], is identified on the basis of the additional phenotypical manifestations of acanthosis nigricans, vertebral changes and cementomas of the jaws.

MIM

craniostenosis


Input: We tested 538 patients for p53 codon 72 variants, including 167 unrelated patients with pathogenic germline mutations in MSH2 or MLH1 and colorectal carcinoma as first tumour, 126 patients with sporadic microsatellite stable colorectal cancers, and 245 healthy controls.

sporadic


Input: We assessed univariate associations of each SNV with quantitative traits and a principal components analysis and associations between SNVs in KLB and FGFR4 and symptom phenotype in 405 IBS, 228 controls and colonic transit in 70 IBS-D, 71 IBS-constipation.

constipation


Input: In particular, the TRX to TBP-2 ratio was significantly higher during late secretory and menstrual phase in patients with endometriosis compared with the control group.

TBP

endometriosis


Input: MEK1/2 inhibitor selumetinib (AZD6244) inhibits growth of ovarian clear cell carcinoma in a PEA-15-dependent manner in a mouse xenograft model.

clear cell carcinoma


Input: We investigated whether smoking would interact with the TNF-alpha G-308A polymorphism in determining plasma levels of TNF-alpha and CRP.

TNF-alpha

smoking


Input: The present study evaluated the prognostic significance of apoptosis-related proteins, p53, Bcl-2, Bax, and galectin-3 in patients with locally advanced esophageal cancer treated with definitive chemoradiotherapy.

esophageal cancer

esophageal cancer


Input: To explore the association of polymorphisms within the NTRK2 gene (encoding TrkB) and sporadic AD (sAD), a case-control study was conducted in a Chinese Han cohort including 216 sAD patients and 244 control participants.

NTRK2 gene

sporadic


Input: Simple regression analysis revealed that age, female sex, homeostasis model assessment of insulin resistance (HOMA-IR) index, systolic blood pressure, low HDL cholesterol, and high-sensitivity C-reactive protein (hs-CRP) were positively correlated with plasma resistin (P < 0. 001, 0. 003, < 0. 001, 0. 004, < 0. 001, and 0. 003, respectively).

CRP

insulin resistance


Input: Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.

FAH

FAH


Input: This investigation was designed to explore the role of IL-1RN genotype in unexplained infant deaths (including sudden infant death syndrome (SIDS)), non-infectious infant deaths, and infectious infant deaths, and to investigate whether IL-1RN genotype is related to the finding of organisms in normally sterile sites in infant deaths.

sterile


Input: In AIA, arthritis was significantly decreased in PAR-2-deficient mice and was associated with decreased levels of anti-mBSA IgG antibodies and lymph node cell proliferation.

PAR

arthritis


Input: As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.

major depression

major depression


Input: Thus, these mice may provide an attractive model to discover the pathogenic mechanisms linking aberrant pre-messenger RNA splicing with liver damage, fibrosis, and HCC.

HCC

fibrosis


Input: This correlated with inhibition of hyperglycemia-induced PAI-1 expression by GF109203X, NAC, and GSH.

NAC

hyperglycemia


Input: The decrease in peripheral blood lymphocyte subgroup CD4 + and CD8 + cells after renal transplantation in patients with CMV viremia showed prognostic value for pneumonia.

viremia


Input: The COX-2 inhibitor celecoxib decreased neuronal excitability and prevented epileptogenesis in pilocarpine-induced status epilepticus rats.

status epilepticus

status epilepticus


Input: We demonstrate that PDLIM2 is decreased in both ovarian high-grade serous carcinoma and in various human ovarian cancer cell lines compared with normal ovary tissues and human ovarian surface epithelial cells (HOSE).

serous carcinoma


Input: The present study investigated the potential therapeutic utility of combining a 5-HT7 antagonist with a selective serotonin (5-HT) reuptake inhibitor (SSRI), the standard of care in depression, on circadian rhythm regulation.

depression

depression


Input: Here we report a novel missense mutation of GPR56, E496K, identified in a consanguineous pedigree with bilateral frontoparietal polymicrogyria.

bilateral frontoparietal polymicrogyria

bilateral frontoparietal polymicrogyria


Input: The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type (WT), is complex due to the existence of different subgroups with distinct molecular hallmarks, including defects in the succinate dehydrogenase (SDH) complex and mutations of neurofibromatosis type 1 (NF1), BRAF, or KRAS genes (RAS-pathway or RAS-P). In this extremely heterogeneous landscape, the clinical profile and molecular abnormalities of the small subgroup of WT GIST suitably referred to as quadruple wild-type GIST (quadrupleWT or KITWT/PDGFRAWT/SDHWT/RAS-PWT) remains undefined.

PDGFRA

abnormalities


Input: Treatment of AML cells with the clinically available RANKL Ab Denosumab resulted in enhanced NK cell anti-leukemia reactivity.

RANKL

leukemia


Input: To elucidate the true nature of fatal LPD observed in Herpesvirus papio (HVP)-induced rabbit hemophagocytosis, reactive or neoplastic, we analyzed sequential development of HVP-induced rabbit LPD and their cell lines.

LPD

hemophagocytosis


Input: We have investigated frameshift mutations in exonic repeats in the ATR, BRCA1, BRCA2, PTCH, CTCF, Cx26, NuMa and TGFbetaRII genes, using human tumor samples from stomach, esophagus, breast and skin and melanoma, as well as colon cancer and endometrial cancer cell lines (125 samples in total).

endometrial cancer


Input: Comparison of gene expression profiles revealed a significantly enriched expression of oncogenes, chromosomal instability markers and E2F1 targets in the post-PHx compared to spontaneous tumors.

chromosomal instability


Input: Combination treatment with Grb7 peptide and Doxorubicin or Trastuzumab (Herceptin) results in cooperative cell growth inhibition in breast cancer cells.

breast cancer

breast cancer


Input: These studies suggest a specific role for proteoglycanbound ApoE at the surface of HSPCs to promote cholesterol efflux via ABCA1/ABCG1 and decrease cell proliferation, monocytosis, and atherosclerosis.

monocytosis


Input: We have analyzed the oncogene rearrangements involving BCL2 and MYC in the leukemia cells of a patient with an aggressive prolymphocytic leukemia that had an abnormal karyotype including a t (14; 18) translocation and a chromosome 17q +.

prolymphocytic leukemia


Input: The mRNA levels of myocardial fibrosis markers (CTGF, TGF-beta 1, Collagen I/III) in AF group increased significantly compared to the SR group (all P < 0. 05).

CTGF

myocardial fibrosis


Input: Association at SYNE1 in both bipolar disorder and recurrent major depression.

recurrent major depression

recurrent major depression


Input: Magnetic resonance imaging (MRI) allows examining inflammation and central nervous system (CNS) tissue damage in patients suffering from multiple sclerosis (MS), a demyelinating disease of the CNS.

MRI

inflammation


Input: Cells expressing the IL-6 gene or the IL-1 alpha gene were found scattered inside sarcoid granulomas and in the residual lymphoid tissue.

alpha gene

granulomas


Input: No association was found between the genotype frequencies of NOX4 and CYBA SNPs and inflammation scores or fibrosis stages in the overall population.

CYBA

inflammation


Input: A RUNX3 real-time quantitative methylation-specific PCR (RTQ-MSP) technique we developed was used to analyze the CpG sites in the RUNX3 promoter of 119 colorectal tumors and 344 sera from colorectal cancer patients.

MSP

colorectal tumors


Input: However, when we looked at marginal zone lymphoma, a specific subtype of lymphoma characterised by inflammation, we found that homozygosity for the SOD2 16Ala allele was associated with a decreased risk among UK study participants.

marginal zone lymphoma


Input: Taken together, our results strongly demonstrated that B-myb had a critical role in both cell cycle progression and tumorigenesis, and might serve as a novel potential target in the diagnosis and/or treatment of human breast cancer.

B-myb

tumorigenesis


Input: Microsatellite instability in sporadic carcinomas of the proximal colon: association with diploid DNA content, negative protein expression of p53, and distinct histomorphologic features.

sporadic


Input: Whereas those with t (1; 7)) (q10; p10) showed brief survivals, those with trisomy 1q but monosomy for regions other than 7q survived longer than the remaining patients.

trisomy


Input: Studies with transgenic mice that over-express AKR1B1 indicate that it is the key protein for the development of diabetic complications including diabetic cataract.

cataract

cataract


Input: Constitutive expression of functional CD40 on mouse renal cancer cells: induction of Fas and Fas-mediated killing by CD40L.

renal cancer


Input: In addition, we present evidence for increased LDHA and SOD2 expression in SDHB-PHEOs/PGLs, proteins that have been proposed as promising therapeutic targets in other cancers.

PGLs

cancers


Input: In non-neoplastic inflammation, such as gastritis, NOVA1 was highly enriched in T lymphocytes and stromal spindle cells, while expression of this protein was frequently decreased in those types of cells within gastric cancer tissues.

non-neoplastic


Input: We report a new missense SACS mutation (7848C & gt; T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients.

SACS

ARSACS

SACS

ARSACS


Input: Previous studies have shown that antipsychotics with high propensity for antipsychotic-induced weight gain (AIWG) influence glucose transporter type 4 (GLUT4) mediated glucose intake.

weight gain


Input: Patients with mild to severe ABCG2 dysfunction accounted for 78. 4% of gout cases.

mild


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

APOB

blood pressure


Input: Most of the 32 endometrioid adenocarcinoma cases showed positive KGF and KGFR stainings (90. 6 and 71. 9%, respectively).

KGF

endometrioid adenocarcinoma


Input: No significant differences were detected in the minor allele frequency of ACE2 rs2106809, rs2285666, or ACE I/D in either female or male patients with orthostatic hypertension (15. 1%, 22. 7%, 19. 6%, respectively), hypotension (13. 8%, 25%, 16. 5%), or normal orthostatic blood pressure response (14. 4%, 21. 9%, 15. 8%) in additive, dominant or recessive models after adjustment for confounders (all P > 0. 05).

hypotension


Input: Assessment of possible replication in 847 cases of European descent from a large independent sample, the Collaborative Study of the Genetics of Alcoholism, yielded replication for DKK2 but not EGF.

EGF

Alcoholism

EGF

Alcoholism


Input: We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.

CCD

CCD


Input: Interestingly, these cells showed different phenotypic features from the majority of original leukemia cells (CD3 +/-CD4 + CD8-).

leukemia


Input: Dental phenotype in Jalili syndrome due to a c. 1312 dupC homozygous mutation in the CNNM4 gene.

Jalili syndrome

Jalili syndrome


Input: Overall, these results suggest that PKCι is functionally important in alveolar rhabdomyosarcoma anchorage-independent growth and tumor-cell proliferation and that combination therapy with ATM and microtubule inhibitors holds promise for the treatment of alveolar rhabdomyosarcoma.

ATM

alveolar rhabdomyosarcoma


Input: smoking and alcohol were tested, drinkers seemed to be at lower risk than nondrinkers when carrying the heterozygous genotype Ile/Val in codon 432 of CYP1B1 (OR = 0. 42; 95% CI = 0. 21-0. 83; p = 0. 013 vs. OR = 1. 02; 95% CI = 0. 34-2. 94; p = 0. 977).

smoking


Input: Human IL-21 and IL-21R deficiencies cause severe, primary immunodeficiency reminiscent of common variable immunodeficiency.

common variable immunodeficiency


Input: In the case of TRH, higher doses were needed to induce such effects. NS-3 (0. 1-0. 3 mg/kg, i. v.) reversed the pentobarbital-induced narcosis in a dose-dependent manner.

TRH

narcosis

TRH

narcosis


Input: This case was associated with a more aggressive course than typically seen with B-CLL or malignant lymphoma, small lymphocytic type, implying along with previous reports that CD2 expression may serve as a marker of small lymphocytic tumor cell behavior and the ultimate clinical course.

malignant lymphoma, small lymphocytic