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HELIX
MCID: HLX001
MIFTS: 47

Helix Syndrome (HELIX)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Helix Syndrome

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MalaCards integrated aliases for Helix Syndrome:

Name: Helix Syndrome 56 58 73 29 6
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 56 73
Helix 56 73
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome 58
Abnormality of the Helix 29
Syndrome, Helix 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
helix syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases
Rare renal diseases


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Summaries for Helix Syndrome

About this section
UniProtKB/Swiss-Prot : 73 HELIX syndrome: An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis.

MalaCards based summary : Helix Syndrome, also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia, is related to vascular helix of umbilical cord and ear without helix. An important gene associated with Helix Syndrome is CLDN10 (Claudin 10). The drugs Lidocaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and t cells, and related phenotypes are nephrolithiasis and polydipsia

More information from OMIM: 617671
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Related Diseases for Helix Syndrome

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Diseases related to Helix Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 655)
# Related Disease Score Top Affiliating Genes
1 vascular helix of umbilical cord 12.4
2 ear without helix 12.2
3 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.2
4 familial woolly hair syndrome 11.5
5 question mark ears, isolated 11.4
6 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.3
7 auriculocondylar syndrome 3 11.3
8 parkinson disease 22, autosomal dominant 11.3
9 deafness, conductive, with malformed external ear 11.1
10 hairy ears, y-linked 11.1
11 neurofibromatosis-noonan syndrome 11.1
12 preauricular tag, isolated, autosomal dominant, 1 11.1
13 spermatogenic failure 10 11.1
14 acrofrontofacionasal dysostosis 11.1
15 auriculo-condylar syndrome 11.1
16 kozlowski-krajewska syndrome 11.1
17 lung cancer 10.9
18 polycystic kidney disease 10.9
19 breast cancer 10.8
20 acute myocardial infarction 10.8
21 pancreatic ductal adenocarcinoma 10.6
22 hand skill, relative 10.6
23 hepatosplenic t-cell lymphoma 10.5
24 rapidly involuting congenital hemangioma 10.5
25 human immunodeficiency virus type 1 10.4
26 leukemia 10.4
27 brittle bone disorder 10.4
28 leukemia, acute lymphoblastic 10.4
29 t-cell acute lymphoblastic leukemia 10.3
30 precursor t-cell acute lymphoblastic leukemia 10.3
31 prion disease 10.3
32 t-cell lymphoblastic leukemia/lymphoma 10.3
33 triiodothyronine receptor auxiliary protein 10.3
34 erythroleukemia, familial 10.3
35 retinoblastoma 10.3
36 pitt-hopkins syndrome 10.3
37 familial retinoblastoma 10.3
38 osteogenic sarcoma 10.2
39 pertussis 10.2
40 contact dermatitis 10.2
41 glioblastoma multiforme 10.2
42 neuroblastoma 10.2
43 47,xyy 10.2
44 leukemia, t-cell, chronic 10.2
45 iron metabolism disease 10.2
46 dermatitis 10.2
47 squamous cell carcinoma, head and neck 10.2
48 alcoholic hepatitis 10.2
49 autoimmune disease 10.2
50 papillomatosis, confluent and reticulated 10.2

Graphical network of the top 20 diseases related to Helix Syndrome:



Diseases related to Helix Syndrome
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Symptoms & Phenotypes for Helix Syndrome

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Human phenotypes related to Helix Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 31 very rare (1%) HP:0000787
2 polydipsia 31 HP:0001959
3 hypokalemia 31 HP:0002900
4 renal insufficiency 31 HP:0000083
5 dry skin 31 HP:0000958
6 xerostomia 31 HP:0000217
7 hypohidrosis 31 HP:0000966
8 alacrima 31 HP:0000522
9 hypocalciuria 31 HP:0003127
10 hypermagnesemia 31 HP:0002918
11 heat intolerance 31 HP:0002046
12 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
polydipsia

Head And Neck Mouth:
xerostomia

Laboratory Abnormalities:
hypocalciuria
hypermagnesemia
hypokalemia (in adults)
low urinary magnesium
reduced 25-hydroxy vitamin d levels

Head And Neck Teeth:
enamel wear, severe

Skin Nails Hair Skin Histology:
slightly thickened stratum corneum
follicular ostial dilation
basket-weave keratin
increased number of dilated eccrine sweat glands
acantholytic appearance of epithelial cells of eccrine sweat glands

Skin Nails Hair Skin:
dry skin
heat intolerance
generalized hypohidrosis or anhidrosis
fine scaling (predominantly on arms and knees)

Head And Neck Eyes:
alacrima

Genitourinary Kidneys:
polyuria
nephrolithiasis (in some patients)
renal failure, mild
renal nacl wasting
extensive nonspecific fibrosis seen on renal biopsy (in 1 patient)
more
Cardiovascular Vascular:
low to low-normal blood pressure

Endocrine Features:
normal to high plasma aldosterone
elevated plasma renin levels
elevated parathyroid hormone levels

Clinical features from OMIM:

617671
Sources

Drugs & Therapeutics for Helix Syndrome

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics Phase 4
3
nivolumab Approved Phase 2, Phase 3 946414-94-4
4
Tranexamic Acid Approved Phase 3 1197-18-8 5526
5 Pharmaceutical Solutions Phase 3
6 Ophthalmic Solutions Phase 3
7 Antineoplastic Agents, Hormonal Phase 2, Phase 3
8 Hormone Antagonists Phase 2, Phase 3
9 Estrogens Phase 2, Phase 3
10 Antineoplastic Agents, Immunological Phase 2, Phase 3
11 Liver Extracts Phase 3
12 Hemostatics Phase 3
13 Antifibrinolytic Agents Phase 3
14 Coagulants Phase 3
15
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
16
Bevacizumab Approved, Investigational Phase 2 216974-75-3
17
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
18
Daunorubicin Approved Phase 2 20830-81-3 30323
19
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Lenograstim Approved, Investigational Phase 2 135968-09-1
22
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
23
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
24
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
25
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
26 Carboxymethylcellulose Sodium Phase 1, Phase 2
27 Charcoal Phase 1, Phase 2
28 Propolis Phase 1, Phase 2
29 Bee Products Phase 1, Phase 2
30 Calendula Phase 1, Phase 2
31 Immunoglobulins Phase 2
32 Antibodies Phase 2
33 Immunoglobulins, Intravenous Phase 2
34 Paraproteins Phase 2
35 Immunoglobulin A Phase 2
36 Myeloma Proteins Phase 2
37 Immunoglobulin M Phase 2
38 Hormones Phase 2
39 Alkylating Agents Phase 2
40
Liposomal doxorubicin Phase 2 31703
41 Anti-Bacterial Agents Phase 2
42 Antibiotics, Antitubercular Phase 2
43 Immunologic Factors Phase 2
44 Albumin-Bound Paclitaxel Phase 2
45 Mitogens Phase 2
46 Chelating Agents Phase 2
47 Immunosuppressive Agents Phase 2
48 Tubulin Modulators Phase 2
49 Antirheumatic Agents Phase 2
50 Antimitotic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Estimation of MMP-8 Levels in GCF and Serum and Its Correlation With Wound Healing and Clinical Outcomes After Coronally Advanced Flap and Subepithelial Connective Tissue Graft for Root Coverage in Recession Defects: A CLINICO-BIOCHEMICAL STUDY Suspended NCT02863744 Phase 4
2 Investigation on Efficacy and Tolerability of Prospan® Hustenzäpfchen for the Symptomatic Treatment of Acute Bronchitis Accompanied by Coughing in Children Unknown status NCT01127048 Phase 3 Suppositories containing Ivy leaves dry extract;Placebo
3 HELIX, a Double-masked Study of SYL1001 in Patients With Moderate to Severe Dry Eye Completed NCT03108664 Phase 3 SYL1001 ophthalmic solution;Vehicle opthalmic solution
4 Stimulation of Auricular Acupuncture-Point for Chemotherapy-Induced Nausea/Vomiting: A Prospective Randomized Double-blind Cross-over Study Completed NCT00360841 Phase 3
5 A Two-arm Multi-stage (TAMS) Seamless Phase II/III Randomised Trial of Nivolumab in Combination With TACE for Patients With Intermediate Stage HCC Recruiting NCT04268888 Phase 2, Phase 3 Nivolumab and TACE
6 Randomized Controlled Pivotal Trial of Autologous Bone Marrow Mononuclear Cells Using the CardiAMP Cell Therapy System in Patients With Post Myocardial Infarction Heart Failure (CardiAMP Heart Failure Trial) Recruiting NCT02438306 Phase 3
7 The HeLiX (Hemorrhage During Liver Resection: traneXamic Acid) Trial: Tranexamic Acid (TXA) Versus Placebo to Reduce Perioperative Blood Transfusion in Patients Undergoing Liver Resection: A Randomized Controlled Trial Recruiting NCT02261415 Phase 3 Tranexamic acid (TXA);Normal saline
8 Randomized Controlled Pivotal Trial of Autologous Bone Marrow Cells Using the CardiAMP Cell Therapy System in Patients With Refractory Angina Pectoris and Chronic Myocardial Ischemia (CardiAMP CMI Trial) Not yet recruiting NCT03455725 Phase 3
9 Clinical Trial Phase I-II of Efficacy and Safety of Snail Slime and Natural Extracts for Healing in Diabetic Foot Ulcers Unknown status NCT03166423 Phase 1, Phase 2 MU001 patches (Investigational)
10 Phase II Study With Trabectedin (Yondelis®) in BRCA1 and BRCA2 Mutation Carrier and BRCAness Phenotype Advanced Ovarian Cancer Patients Unknown status NCT01772979 Phase 2 Trabectedin
11 Electroacupuncture for Major Depression: A Pilot Study Completed NCT00071110 Phase 2
12 A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed Refractory Multiple Myeloma Completed NCT00464178 Phase 2 Bortezomilb
13 A Multicentric Controlled Phase I / IIb Study Evaluating the Safety and the Efficacy of in Vitro Expanded Peripheral Blood CD34+ Stem Cells Output by the StemXpand® Automated Process, and Injected in Patients With an Acute Myocardial Infarction and a Left Ventricle Ejection Fraction (LVEF) Remaining Below or Equal to 45% After PTCA and Stent(s) Implantation Versus Standard of Care. Recruiting NCT02669810 Phase 2 PROTHERACYTES
14 A Phase 2a, Open-Label, Two Stage Study: Stage A: Dose-Range Finder Study to Assess the Safety and Efficacy of Two Doses of Nerofe and Two Doses of Nerofe in Combination With Doxorubicin in Subjects With Acute Myelogenous Leukemia or High Risk Myelodysplastic Syndrome (AML/High Risk MDS). Stage B: Dose Confirmation Study to Assess the Safety and Efficacy of Nerofe or Nerofe in Combination With Doxorubicin in Subjects With AML/ High Risk MDS Recruiting NCT03059615 Phase 2 Nerofe;Doxorubicin
15 A Phase II Study of Neoadjuvant Carboplatin/Paclitaxel Followed by Dose-Dense Doxorubicin/Cyclophosphamide in Patients With Hormone Receptor Negative, HER2 Receptor Negative Breast Cancer Active, not recruiting NCT03301350 Phase 2 Carboplatin;Paclitaxel;Doxorubicin;Cyclophosphamide;Pegfilgrastim;Filgrastim
16 A Phase 1b Trial of Selinexor Plus Doxorubicin in Advanced Soft Tissue Sarcomas (STS) Active, not recruiting NCT03042819 Phase 1 Selinexor;Doxorubicin
17 The Relation Between Serum Ascorbic Acid Concentration and Preterm Premature Rupture of Membranes Unknown status NCT02635451
18 Evaluation of Myocardial Viability in Late Presentation Myocardial Infarction: Dual Energy Cardiac CT vs. Cardiac MRI. Unknown status NCT02360150
19 The Role of Regulatory T Cell in Patients With Type 1 Diabetes Mellitus Unknown status NCT00173641
20 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
21 Gene-expression Profile as Predictor of Central Nervous System Metastasis Development in Non-small Cell Lung Cancer: a Prospective Study Unknown status NCT00862173
22 Is the Quad Helix More Efficient to Correct Mandibular Asymmetry Before Age 7? A Retrospective Comparative Study Completed NCT04429113
23 Hypothermia for Encephalopathy in Low Income Countries-Feasibility Completed NCT01760629
24 Corticotomy-assisted Slow Maxillary Expansion With Bone Allograft Assessed With Cone Beam Computed Tomography in Young Adults Completed NCT02574117
25 Increased Density of Ghrelin-Expressing Cells in the Gastric Fundus and Body in Prader-Willi Syndrome Completed NCT01404624
26 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
27 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum - Feasibility, Long-term Lead Stability and Safety Completed NCT01609738
28 Auricular Acupressure for Hemodialysis Patients With Insomnia: Study Protocol for a Multi-centre Double-blind, Randomized Controlled Trial Completed NCT03015766
29 PRESSURE: Prospektive, Randomisierte Und Kontrollierte Untersuchung Von Lokaler Druckapplikation im Rahmen Der Keloid-Therapie Der Ohrmuschel Completed NCT02962518 Triamcinolone
30 Remodeling of Chromatin-Based Epigenetic Structures in Development and Aging Completed NCT00242255
31 Assessment of the Impact of the Use of the ARA 2 Connected Toothbrush on Short-term Oral Hygiene During the Pre-operative Period of Alveolar Bone Grafts for Patients With Unilateral or Bilateral Cleft Lip and Palate. Oral Hygiene and Connected Toothbrush Before Alveolar Bone Graft for Cleft Lip and Palate. Recruiting NCT03750708
32 Detection of High Expression Levels of EMT-Transcription Factor mRNAs in Patients With Pancreatic Cancer and Their Diagnostic Potential Recruiting NCT04323917
33 "High Levels of EMT-TFs for the Diagnosis of Colorectal Cancer (CRC)" Recruiting NCT04323813
34 Personalized CRT - Attain Stability Quad Post-Approval Study Recruiting NCT04024943
35 The Effect of Timing on Lateral Crossbite Correction - a Randomized Study Recruiting NCT03353766
36 Implant Retained Rehabilitation With Surgical and Prosthetic Digital Workflow: A Randomized Clinical Trial Recruiting NCT04066309
37 The Effect of Acupuncture for Insomnia in Breast Cancer Patients Undergoing Chemotherapy: A Randomized, Sham-Controlled Trial Recruiting NCT04144309
38 Response of the Autonomic Nervous System to Auricular Stimulation of the Vagus Nerve (x) Recruiting NCT04130893
39 Clinical Evaluation of the Safety and Performance of RF and PEMF Following Liposuction Recruiting NCT03588702
40 Comparison of Weight-based Versus External Ear-size Based Technique for Selection of Laryngeal Mask Airway in Pediatric Surgical Patients. Recruiting NCT03931122
41 Effects of Capacitive Radiofrequency at the Dermis and Adipose Tissue in the Abdominal Region Recruiting NCT04182542
42 To Test the Efficacy of Novel Berberine Emulsification by TPGS or Quillaja Extract on the Absorption of Berberine Compared to Berberine Powder in Humans Recruiting NCT03438292
43 Prevention of Epilepsy by Reducing Neonatal Encephalopathy Recruiting NCT04054453
44 Benefits of the HiResolution Bionic Ear System in Adults With Asymmetric Hearing Loss Active, not recruiting NCT02811549
45 Prospective Observational Study of Neodent Implantable Devices of GM Line Active, not recruiting NCT03812276
46 Carotid Artery Implant for Trapping Upstream Emboli for Preventing Stroke in Atrial Fibrillation Patients Active, not recruiting NCT03571789
47 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Active, not recruiting NCT02387385
48 CTHRC1: A Biomarker for Evaluation of Rheumatoid Arthritis Disease Activity Not yet recruiting NCT04415502
49 CTHRC1 Apromising Biomarker in Rheumatoid Arthritis Diagnosis Not yet recruiting NCT04085471
50 Role of Sorcin and Annexin A3 in Breast Cancer Patients Not yet recruiting NCT03598660

Search NIH Clinical Center for Helix Syndrome

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Genetic Tests for Helix Syndrome

About this section

Genetic tests related to Helix Syndrome:

# Genetic test Affiliating Genes
1 Abnormality of the Helix 29
2 Helix Syndrome 29 CLDN10
Sources

Anatomical Context for Helix Syndrome

About this section

MalaCards organs/tissues related to Helix Syndrome:

40
Heart, Brain, T Cells, Breast, Lung, Liver, Bone
Sources

Publications for Helix Syndrome

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Articles related to Helix Syndrome:

(show top 50) (show all 30003)
# Title Authors PMID Year
1
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 61 6 56
28771254 2018
2
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 6 56
28686597 2017
3
Mechanism of the effect of 2, 2'-azobis (2-amidinopropane) dihydrochloride simulated lipid oxidation on the IgG/IgE binding ability of ovalbumin. 61
32446030 2020
4
Strategies for identifying dynamic regions in protein complexes: Flexibility changes accompany methylation in chemotaxis receptor signaling states. 61
32304758 2020
5
Negative charge of the AC-to-Hly linking segment modulates calcium-dependent membrane activities of Bordetella adenylate cyclase toxin. 61
32333856 2020
6
Absorption spectra of Müller cell intermediate filaments: Experimental results and theoretical models. 61
32445978 2020
7
Collagen peptide simulated bending after applied axial deformation. 61
32469728 2020
8
Physicochemical properties and in vitro digestibility of lotus seed starch-lecithin complexes prepared by dynamic high pressure homogenization. 61
32278599 2020
9
Functional analysis of two MyoDs revealed their role in the activation of myomixer expression in yellowfin seabream (Acanthopagrus latus) (Hottuyn, 1782). 61
31756488 2020
10
Structural insights into the intramolecular interactions of centromere protein CENP-I. 61
32017295 2020
11
Role of the central junction in folding topology of the protein-free human U2-U6 snRNA complex. 61
32220895 2020
12
Characterization of the secondary structure and order-disorder transition of a β-(1 → 3, 1 → 6)-glucan from Aureobasidium pullulans. 61
31733241 2020
13
Expression of the subgroup IIIf bHLH transcription factor CpbHLH1 from Chimonanthus praecox (L.) in transgenic model plants inhibits anthocyanin accumulation. 61
32333149 2020
14
An update on genetic variants of the NKX2-5. 61
32369864 2020
15
The bHLH gene family and its response to saline stress in Jilin ginseng, Panax ginseng C.A. Meyer. 61
32239329 2020
16
Retroelement origins of pre-mRNA splicing. 61
32045511 2020
17
RNA editing may stabilize membrane-embedded proteins by increasing phydrophobicity: A study of Zanthoxylum piperitum and Z. schinifolium chloroplast NdhG. 61
32244054 2020
18
Assessment of the conformational profile of bombesin by computational methods. 61
32234677 2020
19
Molecular dynamics of an asymmetric form of GabR, a bacterial transcriptional regulator. 61
32413777 2020
20
In silico characterization of the impact of mutation (LEU112PRO) on the structure and function of carotenoid cleavage dioxygenase 8 in Oryza sativa. 61
32247721 2020
21
Comparative assessment of biomarker response to tissue metal concentrations in urban populations of the land snail Helix pomatia (Pulmonata: Helicidae). 61
32376364 2020
22
Hederacoside-C protects against AGEs-induced ECM degradation in mice chondrocytes. 61
32413742 2020
23
Conformational gating in ammonia lyases. 61
32222547 2020
24
Basic helix-loop-helix (bHLH) gene family in Tartary buckwheat (Fagopyrum tataricum): Genome-wide identification, phylogeny, evolutionary expansion and expression analyses. 61
31734362 2020
25
Cadmium activates AMPA and NMDA receptors with M3 helix cysteine substitutions. 61
32342094 2020
26
Helix B surface peptide reduces sepsis-induced kidney injury via PI3K/Akt pathway. 61
31778269 2020
27
Evaluation of artificial crystalline structure from amylose analog polysaccharide without hydroxy groups at C-2 position. 61
32475598 2020
28
Sub-Ångstrom structure of collagen model peptide (GPO)10 shows a hydrated triple helix with pitch variation and two proline ring conformations. 61
32182540 2020
29
The αC helix of TIRAP holds therapeutic potential in TLR-mediated autoimmune diseases. 61
32220799 2020
30
A strong correlation between consensus sequences and unique super secondary structures in leucine rich repeats. 61
31998983 2020
31
Structural insights into G domain dimerization and pathogenic mutation of OPA1. 61
32379273 2020
32
Anti-leukemia activities of selenium nanoparticles embedded in nanotube consisted of triple-helix β-d-glucan. 61
32475588 2020
33
Specific Helical Domain Contacts Mediate PARP1 Inhibitor Activity. 61
32276926 2020
34
Lasing from an Organic Micro-Helix. 61
32219946 2020
35
Atomistic mechanism of transmembrane helix association. 61
32497094 2020
36
Nonbonded Atomic Contacts Drive Ultrafast Helix Motions in Myoglobin. 61
32510952 2020
37
Crystal structure of the winged-helix domain of MCM8. 61
32295713 2020
38
Development and growth of auricular cartilage and muscles: A study using human fetuses. 61
32163824 2020
39
Atg3 promotes Atg8 lipidation via altering lipid diffusion and rearrangement. 61
32277540 2020
40
Strict assembly restriction of peptides from rabbit hemorrhagic disease virus presented by rabbit MHC class I molecule RLA-A1. 61
32522857 2020
41
Probing the Structural Dynamics of the Catalytic Domain of Human Soluble Guanylate Cyclase. 61
32528025 2020
42
Insight into the formation mechanism of lotus seed starch-lecithin complexes by dynamic high-pressure homogenization. 61
32004980 2020
43
Crystal structure and ligand-induced folding of the SAM/SAH riboswitch. 61
32520325 2020
44
Human laminin α3 chain G1 domain is a receptor for plasminogen Kringle 5 on human endothelial cells by biological specificity technologies and molecular dynamic. 61
32173023 2020
45
Molecular characterization and functional analysis of IKKα in orange-spotted grouper (Epinephelus coioides). 61
32194248 2020
46
IκB kinase α-1 and -2 regulate cytokine expression in the orange-spotted grouper (Epinephelus coioides). 61
32276035 2020
47
REVERSAL OF RDO5 1, a Homolog of Rice Seed Dormancy4, Interacts with bHLH57 and Controls ABA Biosynthesis and Seed Dormancy in Arabidopsis. 61
32213638 2020
48
TCF21: a critical transcription factor in health and cancer. 61
32542449 2020
49
Helical γ-peptide foldamers as dual inhibitors of amyloid-β peptide and islet amyloid polypeptide oligomerization and fibrillization. 61
32542806 2020
50
Genome-wide identification and characterization of cucumber bHLH family genes and the functional characterization of CsbHLH041 in NaCl and ABA tolerance in Arabidopsis and cucumber. 61
32527214 2020
Sources

Variations for Helix Syndrome

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ClinVar genetic disease variations for Helix Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLDN10 NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)SNV Pathogenic 438636 rs759408749 13:96205151-96205151 13:95552897-95552897
2 CLDN10 NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)SNV Pathogenic 438637 rs1555299783 13:96212645-96212645 13:95560391-95560391
3 CLDN10 NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)SNV Pathogenic 438638 rs930701747 13:96205009-96205009 13:95552755-95552755

UniProtKB/Swiss-Prot genetic disease variations for Helix Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 CLDN10 p.Asn48Lys VAR_080053 rs759408749
2 CLDN10 p.Ser131Leu VAR_080054 rs155529978

Sources

Expression for Helix Syndrome

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Search GEO for disease gene expression data for Helix Syndrome.
Sources

Pathways for Helix Syndrome

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GO Terms for Helix Syndrome

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Sources

Sources for Helix Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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