MCID: NNN010
MIFTS: 42

Noonan Syndrome 3

Categories: Genetic diseases, Rare diseases, Fetal diseases, Endocrine diseases, Skin diseases, Reproductive diseases, Nephrological diseases, Cardiovascular diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Noonan Syndrome 3

MalaCards integrated aliases for Noonan Syndrome 3:

Name: Noonan Syndrome 3 53 12 49 71 28 13 69
Ns3 53 12 49 71
Kras Gene Related Noonan Syndrome 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable features present


HPO:

31
noonan syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome 3

UniProtKB/Swiss-Prot : 71 Noonan syndrome 3: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.

MalaCards based summary : Noonan Syndrome 3, also known as ns3, is related to hepatitis and hepatitis c, and has symptoms including hypertelorism, low-set ears and frontal bossing. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase). The drugs Ribavirin and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and liver.

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the KRAS gene.

OMIM : 53 Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11. (609942)

Related Diseases for Noonan Syndrome 3

Graphical network of the top 20 diseases related to Noonan Syndrome 3:



Diseases related to Noonan Syndrome 3

Symptoms & Phenotypes for Noonan Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
dolichocephaly
scaphocephaly

Head And Neck Face:
frontal bossing

Head And Neck Nose:
short nose
anteverted nares
hypoplastic nasal bridge

Cardiovascular Heart:
hypertrophic cardiomyopathy
patent ductus arteriosus
atrial septal defect
mitral valve prolapse
ventricular septal defect
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Head And Neck Neck:
webbed neck (in some patients)
cystic hygroma (in some patients)

Chest External Features:
broad thorax
thorax deformities

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
high palate

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
delayed bone age

Skeletal Skull:
craniosynostosis (in some patients)

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum, mild

Neurologic Central Nervous System:
developmental delay, mild to severe (in some patients)


Clinical features from OMIM:

609942

Human phenotypes related to Noonan Syndrome 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 frontal bossing 31 HP:0002007
4 global developmental delay 31 HP:0001263
5 short nose 31 HP:0003196
6 anteverted nares 31 HP:0000463
7 short stature 31 HP:0004322
8 webbed neck 31 HP:0000465
9 ventricular septal defect 31 HP:0001629
10 pulmonic stenosis 31 HP:0001642
11 sagittal craniosynostosis 31 HP:0004442
12 juvenile myelomonocytic leukemia 31 HP:0012209
13 atrial septal dilatation 31 HP:0011995

Drugs & Therapeutics for Noonan Syndrome 3

Drugs for Noonan Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
2
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
3
Sofosbuvir Approved Phase 4,Phase 3,Phase 2 1190307-88-0 45375808
4 Interferon-alpha Phase 4,Phase 2,Phase 3,Phase 1
5 interferons Phase 4,Phase 3,Phase 2,Phase 1
6 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
9 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
10
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
11 Iron-Dextran Complex Phase 4
12
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
13
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
14
Ledipasvir Approved Phase 2, Phase 3 1256388-51-8 67505836
15
Peginterferon alfa-2b Approved Phase 2, Phase 3,Phase 1 215647-85-1, 99210-65-8
16
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
17
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
18 Anti-HIV Agents Phase 3,Phase 2
19 Anti-Retroviral Agents Phase 3,Phase 2
20 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2
21 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
22 Liver Extracts Phase 3,Phase 2
23 Interferon-beta Phase 3
24 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
25 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3
26 Antibodies Phase 2, Phase 3
27 Immunoglobulins Phase 2, Phase 3
28 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
29 Reverse Transcriptase Inhibitors Phase 2, Phase 3
30
Tenofovir Phase 2, Phase 3 147127-20-6 464205
31 Atazanavir Sulfate Phase 3
32 Raltegravir Potassium Phase 3
33
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
34
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
35
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
36 Pharmaceutical Solutions Phase 2,Phase 1
37 Vaccines Phase 2,Phase 1
38 Antifungal Agents Phase 2
39 Antirheumatic Agents Phase 2
40 Calcineurin Inhibitors Phase 2
41 Cyclosporins Phase 2
42 Dermatologic Agents Phase 2
43 Immunosuppressive Agents Phase 2
44 triamcinolone acetonide Phase 2
45 Triamcinolone diacetate Phase 2
46 Triamcinolone hexacetonide Phase 2
47 Brewer's Yeast Nutraceutical Phase 2,Phase 1
48
Imidacloprid Vet_approved 105827-78-9 86418
49 Interferon-gamma

Interventional clinical trials:

(show all 45)

# Name Status NCT ID Phase Drugs
1 A Study for G1b CHC Patients With CKD-3 Treated With Grazoprevir Plus Elbasvir Recruiting NCT03144635 Phase 4 Grazoprevir plus Elbasvir
2 Administration of Zepatier (Grazoprevir Plus Elbasvir) in Chronic Hemodialysis (HD) Patients With Hepatitis C Not yet recruiting NCT03365635 Phase 4 Elbasvir 50 MG / Grazoprevir 100 MG [Zepatier]
3 Telaprevir, Peg-IFN-alfa-2a, and RBV in Treatment-Experienced Black/African American and Non-Black/African American Subjects With Genotype 1 Chronic Hepatitis C Terminated NCT01467492 Phase 4 Telaprevir;Ribavirin
4 A Clinical Trial of 16 Weeks of Duration to Evaluate Retreatment With Elbasvir/Grazoprevir Plus Sofosbuvir and Ribavirin in Patients With Chronic Hepatitis C Genotypes 1,4 Who Have Failed to Treat With a Regime Based on an Inhibitor of the NS5A Withdrawn NCT03105349 Phase 4 elbasvir/grazoprevir;Sofosbuvir;Ribavirin
5 A Follow up Study Designed to Obtain Long Term Data on Participants Who Either Achieved a Sustained Virologic Response or Did Not Achieve a Sustained Virologic Response in an AbbVie Sponsored Hepatitis C Study Completed NCT01773070 Phase 3 ABT-450/ritonavir;ABT-333;ABT-267
6 3-year Follow-up Study in Patients Previously Treated With TMC435-Containing Regimen for the Treatment of Hepatitis C Virus Infection Completed NCT01349465 Phase 3 No treatment
7 Efficacy and Safety of MP-424, Interferon Beta (IFN Beta), and Ribavirin(RBV) in Treatment-Naïve or Having Received Interferon Based Therapy With Chronic Hepatitis C (CHC) Completed NCT01753570 Phase 3 MP-424;RBV;IFN beta
8 Efficacy and Safety Study of Simeprevir in Combination With Sofosbuvir in Participants With Genotype 1 Chronic Hepatitis C Virus Infection and Cirrhosis Completed NCT02114151 Phase 3 Simeprevir;Sofosbuvir
9 8 Weeks Versus 12 Weeks of Elbasvir/Grazoprevir in Treatment-naïve CHC With Mild Fibrosis Recruiting NCT03186365 Phase 3 Zepatier Oral Product
10 DAAs Treatment for Chronic HCV/HBV Co-infection Patients(DASCO) Recruiting NCT02555943 Phase 2, Phase 3 Ledipasvir/Sofosbuvir;Sofosbuvir and Daclatasvir;Ombitasvir, Paritaprevir, Ritonavir, Dasabuvir;Entecavir;Tenofovir disoproxil
11 Three-year Follow-up of Participants After Administration of Boceprevir or Narlaprevir for the Treatment of Chronic Hepatitis C (P05063) Terminated NCT00689390 Phase 2, Phase 3 Ribavirin
12 A Study to Treat Subjects With Telaprevir, Ribavirin, and Peginterferon Who Are Coinfected With HIV and Hepatitis C Virus (HCV) Terminated NCT01467479 Phase 3 Telaprevir;Ribavirin;Highly Active Antiretroviral Therapy (HAART)
13 CHRONVAC-C Study Followed by Standard of Care in Chronic Hepatitis C Virus (HCV) Subjects Unknown status NCT01335711 Phase 2 ChronVac-C + SOC;SOC
14 Pilot Study to Assess Efficacy and Safety of Sofosbuvir/Ledipasvir Fixed-dose Combination in Treatment Experienced Subjects With Hepatitis C Virus (HCV) Genotype 1 - HIV Co-infection Completed NCT02125500 Phase 2 Sofosbuvir/Ledipasvir fixed dose
15 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Combined With Pegylated Interferon Plus Ribavirin Standard of Care Therapy Versus Standard of Care Alone in Patients With Genotype 1 Chronic Hepatitis C Infection Completed NCT00606086 Phase 2 GI-5005;Pegylated Interferon and Ribavirin
16 A Pharmacokinetics/Pharmacodynamics Study of SCH 900518 in Previously Untreated Subjects With Genotype 1 Chronic Hepatitis C (Protocol No. P05104AM2)(COMPLETED) Completed NCT00797745 Phase 2 ribavirin;SCH 900518;ritonavir
17 A Phase 2b, Safety and Efficacy Study of Boceprevir in Patients Coinfected With HIV and Hepatitis C (P05411 AM4) Completed NCT00959699 Phase 2 PegIFN-2b;RBV;Placebo to Boceprevir;Boceprevir
18 Safety, Tolerability and Efficacy of 12-weeks of Sovaprevir, ACH-3102 and Ribavirin in Treatment-naive GT-1 HCV Subjects Completed NCT01849562 Phase 2 Sovaprevir;ACH-3102;RBV;Placebo
19 Simeprevir in Combination With Sofosbuvir in Treatment-Naïve or -Experienced Adults With Chronic Genotype 4 Hepatitis C Virus Infection Completed NCT02253550 Phase 2 Simeprevir;Sofosbuvir
20 Safety Study of Pegylated Interferon Lambda Plus Single or 2 Direct Antiviral Agents With Ribavirin Completed NCT01309932 Phase 2 BMS-790052 (NS5A Inhibitor);Ribavirin (RBV);BMS-650032 (NS3 Protease Inhibitor);Ribavirin (RBV);Ribavirin (RBV);BMS-790052 (NS5A Inhibitor);BMS-650032 (NS3 Protease Inhibitor);Placebo (PBO) for BMS-650032 (Placebo for NS3 Protease Inhibitor);Placebo (PBO) for BMS-790052 (Placebo for NS5A Inhibitor);Placebo for Ribavirin (RBV);Placebo for Ribavirin (RBV)
21 Study to Assess Efficacy, Safety, Tolerability and Pharmacokinetics of Simeprevir, Daclatasvir and Sofosbuvir in Treatment-naive Participants With Chronic Hepatitis C Virus Genotype 1 Infection Completed NCT02349048 Phase 2 Simeprevir 150 mg;Daclatasvir 60 mg;Sofosbuvir 400 mg
22 Efficacy and Safety of Combinations of AL-335, Odalasvir (ODV) and Simeprevir (SMV) in the Treatment of Chronic Hepatitis C Infection Completed NCT02765490 Phase 2 AL-335;Odalasvir;Simeprevir
23 Efficacy and Safety of Grazoprevir (+) Uprifosbuvir (+) Ruzasvir (MK-3682B) (MK-5172 + MK-3682 + MK-8408) Fixed Dose Combination in Chronic HCV Participants Failing Prior Antiviral Treatment (MK-3682-021) Completed NCT02613403 Phase 2 Grazoprevir+Uprifosbuvir+Ruzasvir;Ribavirin
24 A Study to Investigate the Pharmacokinetic Interactions Between Simeprevir and Ledipasvir in a Treatment Regimen Consisting of Simeprevir, Sofosbuvir, and Ledipasvir in Treatment-naive Participants With Chronic Hepatitis C Virus Genotype 1 Infection Completed NCT02421211 Phase 2 Simeprevir (SMV);Ledipasvir (LDV);Sofosbuvir (SOF)
25 A Study of Pharmacokinetics, Efficacy, Safety, Tolerability, of the Combination of Simeprevir (TMC435), Daclatasvir (BMS-790052), and Ribavirin (RBV) in Patients With Recurrent Chronic Hepatitis C Genotype 1b Infection After Orthotopic Liver Transplantati Completed NCT01938625 Phase 2 Simeprevir;Daclatasvir;Ribavirin;Cyclosporine;Tacrolimus
26 Efficacy and Safety of Oral Regimens for the Treatment of Chronic HCV Infection Completed NCT02202980 Phase 2 LDV/SOF;RBV;SOF/VEL;VOX
27 A Randomized Study to Evaluate the Safety, Tolerability and Antiviral Activity of ABT-450, ABT-333 and ABT-072 Completed NCT01074008 Phase 2 ABT-450;ABT-072;ABT-333;Ritonavir;Peginterferon alpha-2a;Ribavirin
28 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Recruiting NCT03119025 Phase 1, Phase 2
29 An Efficacy, Safety and Pharmacokinetics Study of Simeprevir, Daclatasvir and Sofosbuvir in Participants With Chronic Hepatitis C Virus Genotype 1 or 4 Infection and Decompensated Liver Disease Active, not recruiting NCT02262728 Phase 2 Simeprevir;Daclatasvir;Sofosbuvir
30 Phase I-II Vaccination of Autologous Dendritic Cells Transduced With Adenoviral Vector Encoding NS3 in Hepatitis C Encoding NS3 in Hepatitis C Terminated NCT02309086 Phase 1, Phase 2
31 GS-5885, GS-9451 With Peginterferon Alfa 2a (PEG) and Ribavirin in Treatment-Naïve Subjects With Chronic Genotype 1 Hep C Virus Infection and IL28B CC Genotype Terminated NCT01384383 Phase 2 GS-5885;GS-9451;RBV;PEG
32 An Open-Label Study of the Effect of Telaprevir in Combination With Peginterferon Alfa-2b and Ribavirin in Pediatric Subjects Infected With Hepatitis C Virus Terminated NCT01701063 Phase 1, Phase 2 Telaprevir;Peginterferon alfa-2b;Ribavirin
33 An Open Label Study of the Effect of Telaprevir in Combination With Ribavirin and Peginterferon on HCV Infection in Stable Liver Transplant Patients Terminated NCT01467505 Phase 2 Telaprevir;Ribavirin;Pegylated Interferon Alfa-2a;Immunosuppressant Regimen
34 An Efficacy, Safety, Tolerability and Pharmacokinetics Study of 12 Weeks Treatment With Simeprevir and Daclatasvir in Participants With Chronic Hepatitis C Virus Genotype 1b or 4 Infection and Either Severe Renal Impairment or End-stage Renal Disease on H Withdrawn NCT02397395 Phase 2 Simeprevir (SMV) 150 mg;Daclatasvir (DCV) 60 mg
35 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Versus Placebo for the Treatment of Chronic Hepatitis C Infection Completed NCT00124215 Phase 1
36 A Study to Evaluate the Effect of ACH-3102 and Simeprevir on AL-335 Pharmacokinetics in Healthy Volunteers Completed NCT02512562 Phase 1 AL-335;ACH-3102;Simeprevir
37 A Drug Interaction Study of Boceprevir in Combination With Amlodipine or Diltiazem in Healthy Volunteers Withdrawn NCT01549496 Phase 1 Amlodipine;Diltiazem
38 TG4040 in Patients With Chronic HCV Withdrawn NCT00449124 Phase 1 Placebo
39 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
40 An Observational/Non-interventional, Study of NS3/4a Protease and NS5A Protein of Hepatitis C Virus in Brazilian Participants With Chronic HCV Infection Completed NCT02597270
41 Evaluating the Role of Immune Responses in the Emergence of Protease Inhibitor Mutations Completed NCT01517529
42 Effect of Teleprevir in Triple Therapy on Intrahepatic Immunological Mechanisms Completed NCT01641094
43 Study the Usefulness of Bio-impedance Spectroscopy in the Early Assessment of Breast Cancer Related Lymphoedema Completed NCT01599039
44 Eliminating Hepatitis C Transmission by Enhancing Care and Treatment Among HIV Co-infected Individuals Recruiting NCT02786758
45 The Durability of Response and Persistence of Resistance to AbbVie's 2 Direct-acting Antiviral Agent (2D) Therapy in Japanese Subjects Active, not recruiting NCT02581020

Search NIH Clinical Center for Noonan Syndrome 3

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

# Genetic test Affiliating Genes
1 Noonan Syndrome 3 28 KRAS

Anatomical Context for Noonan Syndrome 3

MalaCards organs/tissues related to Noonan Syndrome 3:

38
Heart, Skin, Liver, Bone, Breast

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

(show top 50) (show all 88)
# Title Authors Year
1
Viperin restricts Zika virus and tick-borne encephalitis virus replication by targeting NS3 for proteasomal degradation. ( 29321318 )
2018
2
Long non-coding RNA GAS5 inhibited hepatitis C virus replication by binding viral NS3 protein. ( 26945984 )
2016
3
The NS3 and NS4A genes as the targets of RNA interference inhibit replication of Japanese encephalitis virus in vitro and in vivo. ( 27593564 )
2016
4
The hepatitis C virus NS3 Q80K polymorphism is frequently detected and transmitted among HIV-infected MSM in the Netherlands. ( 27662552 )
2016
5
Pharmacokinetics of New HCV NS3 Protease Inhibitor Narlaprevir Following Single Dose Use with or without Ritonavir in patients with liver cirrhosis. ( 27645244 )
2016
6
Plasma apolipoprotein H limits HCV replication and associates with response to NS3 protease inhibitors-based therapy. ( 25556540 )
2015
7
The hepatitis C virus protein NS3 suppresses TNF-I+-stimulated activation of NF-I_B by targeting LUBAC. ( 26577923 )
2015
8
Host APOBEC3G protein inhibits HCV replication through direct binding at NS3. ( 25811715 )
2015
9
Hepatitis C virus NS3 protein enhances cancer cell invasion by activating matrix metalloproteinase-9 and cyclooxygenase-2 through ERK/p38/NF-I_B signal cascade. ( 25305454 )
2015
10
Global origin and transmission of hepatitis C virus NS3 Q80 K polymorphism. ( 25389307 )
2014
11
Preclinical Characterization of the Novel Hepatitis C Virus NS3 Protease Inhibitor GS-9451. ( 23939899 )
2014
12
The presence of additional resistance-related polymorphisms to NS3 protease inhibitors in hepatitis C virus sequences from the Los Alamos databank. ( 24383928 )
2014
13
Caveolin-1 in lipid rafts interacts with dengue virus NS3 during polyprotein processing and replication in HMEC-1 cells. ( 24643062 )
2014
14
Insight into structural organization and protein-protein interaction of non structural 3 (NS3) proteins from dengue serotypes. ( 24910013 )
2014
15
Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor. ( 24503447 )
2014
16
Human pegivirus (GB virus C) NS3 protease activity inhibits induction of the type I interferon response and is not inhibited by HCV NS3 protease inhibitors. ( 24889249 )
2014
17
The NS3 protease and helicase domains of Japanese encephalitis virus trigger cell death via caspasea89dependent and a89independent pathways. ( 23291778 )
2013
18
Hepatitis C virus NS3 inhibitors: current and future perspectives. ( 24282816 )
2013
19
Azetidines and spiro azetidines as novel P2 units in hepatitis C virus NS3 protease inhibitors. ( 24135727 )
2013
20
Novel, sulfonamide linked inhibitors of the hepatitis C virus NS3 protease. ( 24405705 )
2013
21
HCV NS3 protease enhances liver fibrosis via binding to and activating TGF-I^ type I receptor. ( 24263861 )
2013
22
Design, virtual screening and docking study of novel NS3 inhibitors by targeting protein-protein interacting sites of dengue virus - a novel approach. ( 24372240 )
2013
23
Evolutionary dynamics of hepatitis C virus NS3 protease domain during and following treatment with narlaprevir, a potent NS3 protease inhibitor. ( 24168257 )
2013
24
In vitro phenotypic characterization of hepatitis C virus NS3 protease variants observed in clinical studies of telaprevir. ( 24100495 )
2013
25
Allosteric inhibitors of the NS3 protease from the hepatitis C virus. ( 23936097 )
2013
26
Methods for detecting ATP hydrolysis and nucleic acid unwinding of Japanese encephalitis virus NS3 helicase. ( 23948158 )
2013
27
Mapping B-cell linear epitopes of NS3 protein of bovine viral diarrhea virus. ( 23276751 )
2013
28
Detection of hepatitis C virus (HCV) negative strand RNA and NS3 protein in peripheral blood mononuclear cells (PBMC): CD3+, CD14+ and CD19+. ( 24279719 )
2013
29
Aurintricarboxylic acid modulates the affinity of hepatitis C virus NS3 helicase for both nucleic acid and ATP. ( 23947785 )
2013
30
Ligand Bioactive Conformation Plays a Critical Role in the Design of Drugs That Target the Hepatitis C Virus NS3 Protease. ( 24144444 )
2013
31
Over-expression and characterization of NS3 and NS5A of Hepatitis C virus genotype 3a. ( 24238670 )
2013
32
High-throughput virtual screening lead to discovery of non-peptidic inhibitors of West Nile virus NS3 protease. ( 22183561 )
2012
33
Canine hepacivirus NS3 serine protease can cleave the human adaptor proteins MAVS and TRIF. ( 22870331 )
2012
34
Monoclonal antibodies against NS3 and NS5 proteins of Japanese encephalitis virus. ( 22509919 )
2012
35
Membranoproliferative glomerulonephritis and mixed cryoglobulinemia after hepatitis C virus infection secondary to glomerular NS3 viral antigen deposits. ( 22248563 )
2012
36
Translocase of outer mitochondrial membrane 70 induces interferon response and is impaired by hepatitis C virus NS3. ( 22032846 )
2012
37
Interplay between NS3 protease and human La protein regulates translation-replication switch of Hepatitis C virus. ( 22355520 )
2011
38
Flavivirus NS3 and NS5 proteins interaction network: a high-throughput yeast two-hybrid screen. ( 22014111 )
2011
39
Interaction between the yellow fever virus nonstructural protein NS3 and the host protein Alix contributes to the release of infectious particles. ( 21044891 )
2011
40
Hepatitis C virus NS3 protein can activate the Notch-signaling pathway through binding to a transcription factor, SRCAP. ( 21673954 )
2011
41
Structure-based virtual screening for novel inhibitors of Japanese encephalitis virus NS3 helicase/nucleoside triphosphatase. ( 19863664 )
2010
42
p21/Wafl/Cipl cellular expression in chronic long-lasting hepatitis C: correlation with HCV proteins (C, NS3, NS5A), other cell-cycle related proteins and selected clinical data. ( 20164022 )
2009
43
The NS3 protein of rice hoja blanca virus complements the RNAi suppressor function of HIV-1 Tat. ( 19218918 )
2009
44
Mutations in the NS2B and NS3 genes affect mouse neuroinvasiveness of a Western European field strain of tick-borne encephalitis virus. ( 18339416 )
2008
45
Association of hepatitis C virus replication complexes with microtubules and actin filaments is dependent on the interaction of NS3 and NS5A. ( 18562541 )
2008
46
Crystal structure of the NS3 protease-helicase from dengue virus. ( 17942558 )
2008
47
Yellow Fever virus NS3 plays an essential role in virus assembly independent of its known enzymatic functions. ( 18199634 )
2008
48
Intracellular expression of the proliferative marker Ki-67 and viral proteins (NS3, NS5A and C) in chronic, long lasting hepatitis C virus (HCV) infection. ( 18165175 )
2007
49
The serine protease domain of hepatitis C viral NS3 activates RNA helicase activity by promoting the binding of RNA substrate. ( 17921146 )
2007
50
Induction of high-molecular-weight (HMW) tumor necrosis factor(TNF) alpha by hepatitis C virus (HCV) non-structural protein 3 (NS3) in liver cells is AP-1 and NF-kappaB-dependent activation. ( 16916598 )
2007

Variations for Noonan Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 3:

71
# Symbol AA change Variation ID SNP ID
1 KRAS p.Val14Ile VAR_026109 rs104894365
2 KRAS p.Thr58Ile VAR_026111 rs104894364
3 KRAS p.Gln22Arg VAR_064851 rs727503110
4 KRAS p.Pro34Leu VAR_064852 rs104894366
5 KRAS p.Pro34Gln VAR_064853
6 KRAS p.Ile36Met VAR_064854 rs727503109
7 KRAS p.Lys5Glu VAR_065144 rs193929331
8 KRAS p.Gly60Ser VAR_065146 rs104894359

ClinVar genetic disease variations for Noonan Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
2 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
3 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
4 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh37 Chromosome 12, 25362841: 25362841
5 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Pathogenic/Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
6 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
7 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254
8 KRAS NM_033360.3(KRAS): c.440A> G (p.Lys147Arg) single nucleotide variant Pathogenic rs1135401776 GRCh37 Chromosome 12, 25378558: 25378558
9 KRAS NM_033360.3(KRAS): c.194G> T (p.Ser65Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 25380264: 25380264

Expression for Noonan Syndrome 3

Search GEO for disease gene expression data for Noonan Syndrome 3.

Pathways for Noonan Syndrome 3

GO Terms for Noonan Syndrome 3

Sources for Noonan Syndrome 3

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33 ICD10 via Orphanet
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