Introdução
O que você precisa saber de cara
Doença rara caracterizada por coloboma da íris, cistos epidermoides, anormalidades das mãos e coração esquerdo hipoplásico, associada a defeitos na síntese de fucoglicosano. Pode apresentar glaucoma, retardo de crescimento intrauterino e sardas penianas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 84 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 222 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição.
Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity)
Membrane
Spondylocostal dysostosis 1, autosomal recessive
A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Not
Endoplasmic reticulum lumen
Dowling-Degos disease 4
A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
Beta-1,3-glucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological processes. This pathway targets proteins with Thrombospondin type-1 (TSP1) repeats (TSR) in the endoplasmic reticulum. It starts with POFUT2, which attaches fucose via an O-glycosidic bond to a conserved serine or threonine residue. B3GLCT extends this modification by transferring a
Endoplasmic reticulum membrane
Peters-plus syndrome
An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.
Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Also regulates the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signal
Nucleus
Spondylocostal dysostosis 2, autosomal recessive
A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of som
Golgi apparatusGolgi apparatus membrane
Spondylocostal dysostosis 3, autosomal recessive
A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins,
Endoplasmic reticulum membraneGolgi apparatus, Golgi stack membraneCell membraneMembrane
Acne inversa, familial, 2, with or without Dowling-Degos disease
An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease.
Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity)
Cytoplasm
Epidermolysis bullosa simplex 2A, generalized severe
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features.
Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE
Endoplasmic reticulum
Dowling-Degos disease 2
An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.
Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity)
Nucleus
Spondylocostal dysostosis 6, autosomal recessive
A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity)
Nucleus
Spondylocostal dysostosis 4, autosomal recessive
A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.
T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity)
Nucleus
Spondylocostal dysostosis 5
A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive.
Variantes genéticas (ClinVar)
218 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
29 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração da síntese de fucoglicosano
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Mediators of inflammationEffects of heavy metal exposure on oral microbial communities in women with different menopausal status.
Microbiology spectrumAlternative splicing in voltage-gated sodium channels: mechanisms, regulatory networks and therapeutic implications.
Annals of medicineEpigenetic Legacy: The Role of Sperm miRNAs in the Paternal Inheritance of Diabetes and Obesity Development.
Diabetes/metabolism research and reviewsMacrophages expressing macrophage receptor with collagen structure attenuate liver fibrosis through a tissue restoration phenotype.
JCI insightTargeting PI3Kγ anchoring enhances CFTR membrane localization and modulator efficacy via PKD1.
JCI insightHypothyroidism impairs skeletal muscle regeneration after injury by altering myogenic and nonmyogenic pathways.
JCI insightExtracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.
JCI insightDAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation.
JCI insightHeterozygous NFKB1 variant causes inflammatory dysregulation shaped by broader genetic context in common variable immunodeficiency.
JCI insightDietary palmitic acid inhibits colorectal cancer progression through enhancing bisecting GlcNAc.
JCI insightElevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.
BioMed research internationalBacteria weigh up costs and benefits of mobile weapons.
eLifeDevelopment of a post-treatment prognostic model for hepatocellular carcinoma based on nutritional, immune, and inflammatory scoring systems and REDCap-enabled follow-up.
Frontiers in oncologyAssociation rule mining and network analysis of the evolving comorbidity patterns in HIV inpatients in Baise, China.
Frontiers in public healthResearch Progress on Copper Metabolism, Cuprotosis, and Their Regulatory Mechanism in Tumor Diagnosis and Treatment.
Cancer management and researchPanx1 deficiency exacerbates GAN diet-induced obesity by destabilizing β-catenin via GSK3β.
iScienceAutophagy, telomerase, and endothelial dysfunction in COVID-19-induced cardiac injury: an evidence-graded genetic and epigenetic synthesis.
Frontiers in cardiovascular medicineEvaluation of Artemisia annua-Scutellaria baicalensis Herb Pair Carbon Dots Interfering NLRP3 Inflammatory Pathway For Effective Against H1N1 Viral Pneumonia in Mice Model.
International journal of nanomedicineA Self-Assembling Nanomodulator for Synergistic Therapy of Intracerebral Hemorrhage.
International journal of nanomedicineExosome-Based Diagnostics and Cell-Free Therapeutics for Traumatic Brain Injury: From Mechanisms to Bedside.
International journal of nanomedicinePsoriasis: microbiome dysbiosis and pathogenic mechanisms.
Frontiers in immunologyMachine learning reveals targets of Gnaphalium hypoleucum DC. flavonoids against rheumatoid arthritis through gut microbiota and anti-inflammation.
Frontiers in immunologyDownregulation of Cathepsin B expression alleviates periodontitis by reducing mitochondrial reactive oxygen species production and NOD-, LRR-, and pyrin domain-containing 3 -mediated pyroptosis.
Frontiers in immunologyRenal macrophage TLR7 signaling in lupus nephritis: from pathogenic mechanisms to therapeutic opportunities.
Frontiers in immunologyGenetic determinants of arterial thrombosis in primary antiphospholipid syndrome: a systematic review.
Frontiers in immunologyThe transcription factor ZNF683 marks an exhaustion-like GZMB+CD8+ T cell in sepsis.
Frontiers in immunologyLactylation modification - a bridge between sepsis and macrophage metabolic reprogramming.
Frontiers in immunologyTargeting the oxidative stress-neuroinflammation axis: the mechanism of arctigenin's broad-spectrum analgesia with limited side effects.
Frontiers in immunologyFrom soluble uric acid to sodium urate crystal: immune metabolic inflammation driven by uric acid morphological transformation and mechanism-oriented therapy.
Frontiers in immunologySpatial transcriptomic profiling identifies lacrimal-gland-epithelial cell-driven mechanisms underlying autoimmunity in Sjögren's disease.
Frontiers in immunologyRNA sequencing-derived gene co-expression and drug-gene interaction analysis reveal STAT1 as a potential therapeutic target in thrombotic antiphospholipid syndrome.
Frontiers in immunologyDevelopment and characterization of chimeric antigen receptor macrophages for amyloid clearance.
Frontiers in immunologyIFNγ-associated immune-metabolic remodeling is linked to serotonin-kynurenine imbalance and cortical vulnerability in lupus-prone mice.
Frontiers in immunologyMacrophage-derived CXCL8 as a mediator of inflammatory attacks in Meniere's disease.
Frontiers in immunologyInterleukin-35 as a key immunoregulatory mediator in steroid-hyporesponsive severe asthma.
Frontiers in immunologyCell-type specificity of Tim-3 in respiratory diseases: from mechanisms to clinical translation.
Frontiers in immunologyA mouse model of allergic conjunctivitis with mucosal immune-related gene and circRNA dysregulation.
Frontiers in immunologyInflammation dynamics modulate periodontal stem cell fate and function.
Frontiers in immunologyTaking its TOLL: the role of toll-like receptor 4 in human health and disease, and its potential as a therapeutic target.
Frontiers in immunologyAquaporin-4 suppresses neuronal pyroptosis after ischemic stroke via the IκBα/NF-κB signaling pathway.
Frontiers in immunologyIntegrated Management Strategies for Diabetes Mellitus and Hypertension: A Systematic Review.
CureusThe Hidden Face of Lyme Disease: Neuroinfection With Cranial Nerve Involvement.
CureusClinical Value of ¹⁸F-fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Neuroendocrine Neoplasms: A Case Report and Literature Review.
CureusDiabetes associated pericyte metabolic signatures and pathogenesis of diabetic retinopathy.
Frontiers in endocrinologyReference intervals for intact FGF 23 in healthy Korean adults: lower concentrations in young adulthood require age-specific partitioning.
Frontiers in endocrinologyAssociation of insulin resistance with visual decline in older individuals without diabetes: a cross-sectional mediation analysis.
Frontiers in endocrinologyFunctional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia.
Frontiers in endocrinologyOsteocytes orchestrate browning: emerging signals in bone-fat crosstalk: a systematic review.
Frontiers in endocrinologyAge- and diet-dependent progression of retinal microvascular injury in GCK-MODY under metabolic stress.
Frontiers in endocrinologyMetabolic programming in tooth development: a regulatory network from energy substrates to signaling instructions.
Frontiers in cell and developmental biologyBridging innate immunity and iron-dependent death: the interplay between cyclic GMP-AMP synthase-stimulator of interferon genes nexus and ferroptosis in cancer and inflammation.
Frontiers in cell and developmental biologyImmune-metabolic positive feedback model in COPD: cross-mechanisms and potential intervention strategies.
Frontiers in cell and developmental biologyNetwork meta-analysis of traditional Chinese exercises for cardiovascular health in middle-aged and older adults hypertensive patients.
Frontiers in sports and active livingEfficacy of transcranial magnetic stimulation in the treatment of combat-related PTSD: a systematic review and meta-analysis.
Frontiers in psychiatryAssociation between oxidative balance score and kidney function among Chinese adults: impact of gender, diabetes and hypertension.
PeerJTargeting senescent cells in post-traumatic osteoarthritis: mechanisms, microenvironment remodeling, and translational prospects.
PeerJInverse Association Between Triglyceride-Glucose Index and Ischemic Stroke in Hospitalized Patients with Chronic Obstructive Pulmonary Disease and Atrial Fibrillation: A Retrospective Analysis.
International journal of chronic obstructive pulmonary diseaseIntegrating Multi-Omics Data to Uncover Causal Links Between Mitochondria-Related Genes and Chronic Obstructive Pulmonary Disease: A Mendelian Randomization Study.
International journal of chronic obstructive pulmonary diseaseThe Association Between Glycemic Variability and In-Hospital Mortality in Patients with Chronic Obstructive Pulmonary Disease: A MIMIC-IV Database-Based Retrospective Cohort Study.
International journal of chronic obstructive pulmonary diseaseWhy the COPD Microbiome Matters: How Airway Microbes Shape Disease Severity and Treatment Response.
International journal of chronic obstructive pulmonary diseaseNeuroimaging and consciousness: applications of PET, SPECT, and advanced MRI modalities.
American journal of nuclear medicine and molecular imagingGlobal MyoG research 2004-2024: a bibliometric analysis of trends and translational implications.
Experimental biology and medicine (Maywood, N.J.)Integrated metabolomic, proteomic, and transcriptomic analyses reveal the production of bioactive metabolites and antidiabetic effects in mature Solanum lasiocarpum fruit.
Frontiers in plant scienceInsulin-like growth factor 1 associated research in Alzheimer's disease: an exploratory trends analysis.
Frontiers in neurologyIncidental Detection of Glutamate Formiminotransferase Deficiency Through Newborn Screening in a Clinically Asymptomatic Infant: Molecular Findings and Counseling Considerations.
CureusComplex interactions of gut-derived short-chain fatty acids in hyperuricemia and gout pathophysiology.
Frontiers in microbiologyGut microbiota-derived EPA alleviates neuroinflammation associated with white matter injury by influencing H3K9ac/BDNF/TrkB pathway.
Frontiers in microbiologyElectroacupuncture alleviates comorbid obesity and depression via the gut-brain axis: orchestrating SCFA-producing bacteria and hippocampal synaptic plasticity.
Frontiers in microbiologySynthesis of [18F]rufinamide as a radiotracer for epileptic brain imaging.
RSC advancesTwo cases (a decade apart) of severe sulfonylurea-positive hypoglycemia associated with inhaled heroin use.
JCEM case reportsRole of Sodium-Glucose Transport Protein-2 Inhibitors in Renal Protection: A Narrative Review from the Cardiovascular-Kidney-Metabolic Interconnection.
Drug design, development and therapyAdvances and Therapeutic Potential of Anthraquinone Compounds in Neurodegenerative Diseases: A Comprehensive Review.
Drug design, development and therapyInvestigation of Potent Anti-Mycobacterium tuberculosis Agents Derived from Pyridine Derivatives Targeting the Enoyl Acyl Carrier Protein Reductase (InhA): Design, Synthesis, and Computational Analysis.
Drug design, development and therapyUrsodeoxycholic Acid Alleviates DSS/AOM-Induced Colorectal Cancer in Mice by Inhibiting PI3K/Akt/mTOR Signaling Pathway.
Drug design, development and therapyParoxetine as a Therapeutic Agent in Inflammatory Osteolysis: Mechanistic Insights and Efficacy.
Drug design, development and therapyPregnanolone-Based Prodrugs as a Strategy for Neuroprotective Drug-Like Compounds: Pregnanolone Pyroglutamate and Its Age‑dependent Anticonvulsant Effects in the 6-hz Seizure Model in Immature Rats.
Drug design, development and therapyResmetirom: An Update on Therapy for Metabolic Dysfunction-Associated Steatohepatitis (MASH).
Drug design, development and therapyLipid metabolism, viral infection, and antiviral immunity: a new host-pathogen interface.
Frontiers in cellular and infection microbiologyOverexpression of ASvicR combined with the antibacterial monomer DMAHDM interferes with the VicRK two-component system to attenuate the cariogenicity of Streptococcus mutans.
Frontiers in cellular and infection microbiologySynergistic effects of S100 calcium-binding protein A12 combined with Pentraxin 3 in invasive pulmonary aspergillosis and their clinical application prospects.
Frontiers in cellular and infection microbiologyMitochondrial stress as a conceptual interface between bacterial infection and post-infectious metabolic disease.
Frontiers in cellular and infection microbiologyKey role of TLR3 in type I IFN expression and apoptosis induction in IBDV-infected chicken fibroblast cells.
Frontiers in cellular and infection microbiologyZebrafish study provides evidence for Porphyromonas gingivalis outer membrane vesicles eliciting Alzheimer's disease-like pathologies.
Frontiers in cellular and infection microbiologyUncaria rhynchophylla: an ethnopharmacological review integrating traditional Chinese medicine uses with phytochemical and pharmacological evidence.
Frontiers in pharmacologyEthnopharmacology, phytochemistry, and pharmacology of sea buckthorn (Hippophae rhamnoides L.): a comprehensive review.
Frontiers in pharmacologyMultifaceted mechanisms of plant metabolites in pulmonary arterial hypertension: a critical review beyond vasodilation.
Frontiers in pharmacologyEvaluating the Role of Lipid Accumulation Product Index in Endometriosis: Findings from NHANES and Mendelian Randomization.
International journal of women's healthCXCL8 Promotes the Progression of Vulvar Squamous Cell Carcinoma and Serves as a Potential Prognostic Biomarker.
International journal of women's healthNaltrexone/bupropion for binge-eating disorder: A human laboratory investigation of mechanisms.
Drug and alcohol dependence reportsCase Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy.
Frontiers in pediatricsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- ESCRT-Mimetic Nanodegrader Targets STING for Anti-Inflammatory Therapy.
- The Ovine Brain as a Model for Human Neurodevelopment: Immunohistochemical Profiling of Brain Maturation Markers in Preterm Lambs.
- Ophiopogonin D Alleviates Nonalcoholic Steatohepatitis via Ferroptosis Through AKT1/STAT3/HIF-1α Axis.
- Moderate-to-Vigorous Physical Activity and Cerebral Small Vessel Disease in Older Adults with Type 2 Diabetes: A Cross-Sectional Study.
- Early intestinal barrier changes in A53T transgenic Parkinson's disease mice.
- CD47 stabilizes ROBO2 to regulate glioblastoma progression by preventing ITCH-mediated ubiquitination.
- Targeting NRF2 With Isoeugenol: A Promising Small Molecule for Neurodegenerative, Metabolic, and Chronic Inflammatory Disorders.
- From plant pair to gastroprotection: chemical standardization and in vivo validation of Akebiae Fructus-Hoveniae semen against ethanol-mediated mucosal damage.
- Ex vivo and in silico evaluations of (E)-5-((benzo[d]thiazol-2-ylimino)(methylthio)methylamino)-2-hydroxybenzoic acid as a β3-adrenoreceptor agonist exerting anti-obesity, anti-inflammatory and hepatoprotective effects on Zucker rats.
- Role of Pentacyclic Triterpenes in the Management of Neurological Disorders: An Insight into Molecular Mechanisms and Therapeutic Approaches.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:309505(Orphanet)
- MONDO:0017747(MONDO)
- GARD:21341(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q55787323(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar