A dopamina beta-hidroxilase (DBH), também conhecida como dopamina beta-mono-oxigenase, é uma enzima presente em seres humanos, responsável principalmente pela conversão de dopamina em norepinefrina/noradrenalina.
Introdução
O que você precisa saber de cara
Doença rara do metabolismo de peptídeos, associada a genes como PEPD e NPHP3, manifesta-se com baixa linha de implantação capilar, cistite recorrente, eritema e alterações ungueais. Pode apresentar aracnodactilia, ceratodermia palmoplantar, deficiência visual e aplasia/hipoplasia da pele.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 71 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
4 genes identificados com associação a esta condição.
Dipeptidase that catalyzes the hydrolysis of dipeptides with a prolyl (Xaa-Pro) or hydroxyprolyl residue in the C-terminal position (PubMed:17081196, PubMed:35165443). The preferred dipeptide substrate is Gly-Pro, but other Xaa-Pro dipeptides, such as Ala-Pro, Met-Pro, Phe-Pro, Val-Pro and Leu-Pro, can be cleaved (PubMed:17081196). Plays an important role in collagen metabolism because the high level of iminoacids in collagen (PubMed:2925654)
Prolidase deficiency
A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies.
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements
Cell projection, cilium
Nephronophthisis 3
An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity)
CytoplasmNucleusCytoplasm, cytoskeleton, spindle pole
Nephronophthisis 20
A form of nephronophthisis, an autosomal recessive chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly.
Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889) Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling
MitochondrionCytoplasm
Nephronophthisis-like nephropathy 1
An autosomal recessive disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, intellectual disability and hypertrophic dilated cardiomyopathy.
Variantes genéticas (ClinVar)
414 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 — Doença do metabolismo de peptídeos
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo de peptídeos
Centros para Doença do metabolismo de peptídeos
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Frontiers in immunologyQuantitative evaluation of T-cell repertoire restoration following hematopoietic stem cell transplantation in patients with and without graft versus host disease.
Frontiers in immunologyObacunone Promotes Functional Recovery After Spinal Cord Injury by Attenuating Neuroinflammation by Targeting the TLR4/MyD88/p38 MAPK Pathway.
Drug design, development and therapyMicroencapsulated Akkermansia muciniphila alleviates acute lung injury in juvenile mice by protecting intestinal barrier.
Frontiers in cellular and infection microbiologyRetrospective real-world database study to examine the prevalence and incidence of cardiovascular diseases and medication prescription in Japanese patients with type 2 diabetes.
Diabetology internationalReal world experience with [68Ga]PentixaFor PET/CT in Primary Aldosteronism using newly developed harmonized diagnostic criteria.
Frontiers in endocrinologyThrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
The Journal of international medical researchMitochondrial Adaptations in Skeletal Muscle Following Incretin-Based Therapies: In Vitro.
Journal of cachexia, sarcopenia and muscleMachine Learning Integrates Bulk and Single-Nucleus RNA Sequence to Explore Apoptosis-Related Gene in Myocardial Infarction.
Cardiovascular therapeuticsGLP-1-derived therapies and risk of sarcopenia: myth or reality?
Expert opinion on drug safetyPrussian blue analogue-mineralized ginseng-derived vesicles promote PPARγ nuclear translocation to suppress tumor vasculogenic mimicry and reverse the immunosuppressive microenvironment.
Journal of nanobiotechnologyGLP-1 guidelines amid an obesity epidemic: a poor fit for the Global South.
Archives of public health = Archives belges de sante publiqueChalcone-based Pyrazoline Derivatives as Modulators of Neuroinflammatory and Redox Pathways in Experimental Epilepsy.
Molecular neurobiologyEngineered Lecithin-Polymer Hybrid Micelles for Enhanced Gallic Acid Delivery: Response Surface Optimization and Preclinical Evaluation.
AAPS PharmSciTechSphingosine-1-Phosphate Receptor 3 Mediated Neuroinflammation is Critically Involved in the Development of Brain Injury Following Cardiac Arrest in Mice.
Neurochemical researchEfficacy of topical erythropoietin gel and mouthwash for recurrent aphthous stomatitis in a randomized clinical trial.
Scientific reportsSpatial heterogeneity of MDSCs mediated by ANXA1-FPRs signaling drives immune suppression in OSCC progression.
Nature communicationsTracking early cognitive decline in preclinical AD with brain MRI similarity.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationTop-Down Mass Spectrometry-Based Structural and Functional Proteomics: A Perspective.
Journal of mass spectrometry : JMSPractical management of glucagon-like peptide-1 receptor agonists in gastroenterology: a position paper by the Italian Society of Gastroenterology (SIGE).
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverEnzymes of physiological amyloidogenesis control pathological amyloid toxicity.
Life science allianceA review on molecular crosstalk: Bioactive polysaccharides and gut microbiota in type 2 diabetes-Pathways, signaling, and therapeutic translation.
International journal of biological macromoleculesInhibition of MAPK p38α overcomes the cancer immunosurveillance defect caused by FPR1 loss-of-function mutation.
Cell reports. MedicineSuboptimal therapeutic responses associated with semaglutide in type 2 diabetes and obesity: A meta-analysis of randomized controlled trials.
Cell reports. MedicineThe role of mesencephalic astrocyte-derived neurotrophic factor in digestive diseases.
Annals of medicineAmyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
Science translational medicineFetal developmental trajectories following maternal immune activation are shaped by sex chromosome-gonadal interactions.
Proceedings of the National Academy of Sciences of the United States of AmericaCorrelation between clinical disease activity and interferon-γ autoantibody titers measured by inhibitory ELISA, and inflammatory biomarkers in adult-onset immunodeficiency associated with anti-interferon-γ autoantibodies.
PloS oneIdentification of novel plasma proteomic biomarkers of Dupuytren disease.
PloS oneRenal Outcomes of GLP-1 Receptor Agonists and Tirzepatide Across CKD Stages and Metabolic Phenotypes (Type 2 Diabetes and/or Overweight/Obesity): A Scoping Review.
Diabetes therapy : research, treatment and education of diabetes and related disordersHydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.
Protein science : a publication of the Protein SocietyEffects of TNF-α Inhibitors on Subclinical Atherosclerosis and Endothelial Function in Patients with Psoriatic Arthritis: A Systematic Review.
La Tunisie medicaleExploring surgical failures in primary hyperparathyroidism.
La Tunisie medicaleEvaluation of Endostatin Levels in COVID-19 Patients Admitted to the Emergency Department.
La Tunisie medicaleCathepsin B promotes asthma potentially via macrophage-associated autophagy and apoptosis.
Journal of immunology (Baltimore, Md. : 1950)CXCL13/CXCR5 chemokine axis promotes antiviral CXCR5+CD19+ B Cells and follicular/effector CXCR5+CD4+ T Cells in the lungs associated with protection from severe and fatal COVID-19 following infection with pathogenic SARS-CoV-2 Delta variant.
Journal of immunology (Baltimore, Md. : 1950)Correlation between serum prolactin and the systemic immune-inflammation index in diabetic kidney disease: a cross-sectional study.
Frontiers in endocrinologyPearl Powder Fluorescent Carbon Dots Alleviate Neuroinflammation in Cerebral Ischemia/Reperfusion Through Suppression of Anxa2/NF-κB Signaling Pathway.
International journal of nanomedicineMacrophage-derived CCL20 promotes abdominal aortic aneurysm progression via lymphocytes CCR6.
Frontiers in immunologyCytokine profiles, genetic polymorphisms, and systemic inflammatory markers in type 1 diabetes patients with COVID-19: IL-18 a predictor of disease severity.
Frontiers in immunologyInteraction between NKG2D and its ligands MICA/B activates the DAP12/SYK/p53/p21 axis to drive pulmonary fibrosis.
Frontiers in immunologyCirculating Toll-like receptor and cytokine profiles and genetic polymorphisms in a Chinese sepsis cohort: potential links to neuroinflammation and blood-brain barrier dysfunction.
Frontiers in immunologyEffect of Glucagon-Like Peptide-1 (GLP-1) Receptor Agonists and Sodium-Glucose Cotransporter-2 (SGLT-2) Inhibitors on Atherosclerotic Cardiovascular Risk Among Patients With Type 2 Diabetes in Primary Health Care Settings in Jeddah, Saudi Arabia.
CureusIL-15 Links Muscle-Kidney Crosstalk to Preserving Podocyte Mitochondrial Fusion and Attenuating Diabetic Nephropathy.
Journal of cachexia, sarcopenia and muscleEarly prediction of acute kidney injury after therapeutic paracentesis in decompensated liver cirrhosis: diagnostic value of IL-18, KIM-1, and FGF-23.
Renal failureColonic inflammatory response in a D-galactose-induced aging model: elevated IL-1β expression.
Journal of molecular histologyNeuro-tumor interactions in peripheral tumors.
Cancer metastasis reviewsEndothelial C-type natriuretic peptide/guanylyl cyclase-B signaling prevents pulmonary arterial hypertension.
Nature communicationsEvaluating the potential of acupuncture for Alzheimer's disease treatment: A meta-analysis and systematic review of mouse model studies.
Translational psychiatryC/EBPβ dictates postmenopausal FSHβ transcription and blockade of AEP/C/EBPβ pathway alleviates osteoporosis.
Bone researchDectin-1 epigenetic reprogramming rescues senescent-like Treg function in allergic asthma.
Life science allianceContingency of Plasma Dementia Biomarkers on Cognitive Profiles for Prognosis of Incident Dementia: The ARIC Study.
NeurologyEarly Postprandial Response of Skeletal Muscle Phosphoproteome in Type 2 Diabetes Is Comparable to That in Healthy Individuals.
Biochemistry. BiokhimiiaMAPK/ERK Signaling Pathway in Schizophrenia: Expression Levels of Regulatory Proteins in Peripheral Blood Mononuclear Cells.
Biochemistry. BiokhimiiaBeta-Amyloid Suppresses Mitochondrial ATP Production in Human Neuroblastoma Cells.
Biochemistry. BiokhimiiaThe role of combining exercise with pharmacologic management of CKD: From SGLT2 and GLP-1 to broader therapeutic strategies.
NephronATP13A2 restrains macrophage NLRP3 inflammasome activation to repress neurodegeneration via modulating mitochondrial homeostasis.
Proceedings of the National Academy of Sciences of the United States of AmericaLL-37 selectively targets Plasmodium-infected erythrocytes and exhibits antimalarial activity.
PLoS pathogensThe pharmacodynamics of polymyxin B in Acinetobacter baumannii in murine thigh and lung infection models.
The Journal of antimicrobial chemotherapyMorinda officinalis polysaccharide improves osteoporosis by enhancing m⁶A-modified SOCS5 mRNA stability via regulating the hsa_circ_0001165/IGF2BP2 axis.
Molecular genetics and genomics : MGGProbiotic and immune-modulatory capacities of three human gut-derived strains of Parabacteroides distasonis.
Archives of microbiologyMacrophage RNA polymerase II subunit 5-mediating protein deficiency exacerbates kidney inflammation and fibrosis.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]ML364 ameliorates NLRP3-induced inflammatory response.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]The prevalence of autoimmune diseases in antibody negative type 1 diabetes mellitus.
Journal of pediatric endocrinology & metabolism : JPEMNovel anti-rheumatic potential of Eucalrobusone C: inhibition of rheumatoid arthritis fibroblast-like synoviocytes and metabolic reprogramming.
Artificial cells, nanomedicine, and biotechnologyTreatment of hypoparathyroidism (HypoPT): Position Statement of the Expert Group for Polish Society of Endocrinology - update 2026.
Endokrynologia PolskaThe Adiponectin-PP2A Pathway Confers Cognitive Benefits of Physical Exercise Against Chronic Stress-Induced Tau Hyperphosphorylation in the Hippocampus.
Aging cellChronic cerebral hypoperfusion exacerbates amyloid and tau pathology by impairing glymphatic transport via AQP4- and VEGF-mediated pathways: insights from a vascular to mixed-type dementia model.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationNinjurin1 in cardiovascular and vascular biology: From molecular mechanisms to therapeutic opportunities.
Clinical and translational medicineAmantadine Enhances IL-10 Expressions to Maintain the Renal Functions Against Inflammation and Oxidative Stress via Increasing PI3K/AKT/HIF-1α Pathway and Decreasing AQP2-4 Signallings.
Basic & clinical pharmacology & toxicologyTranscriptomic and metabolomic profiling reveals media- and host-dependent responses to Staphylococcus hominis in cell models.
PeerJMaternal Undernutrition During Late Pregnancy Impairs Fetal Renal Development and Induces Apoptotic Pathway Activation in the Sheep Model.
Animal science journal = Nihon chikusan GakkaihoMeasurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [125I]IPPI and [125I]IBETA Autoradiography.
Synapse (New York, N.Y.)A multiomics Mendelian randomization study on PANoptosis-related genes and gastric cancer risk.
The Journal of international medical researchOncostatin-M ligand-based CAR-T therapy displays robust anti-tumor activity against osteosarcoma.
BMC medicineStarvation ketoacidosis associated with tirzepatide use for weight loss in a non-diabetic East Asian woman: a case report.
International journal of emergency medicineUnravelling Epigenetic Modulation via MicroRNA Delivery: A Therapeutic Frontier for Alzheimer's.
Molecular neurobiologyThe secretory protein, CLCF1, improves cholestatic liver disease by inhibiting hepatic bile acid synthesis and promoting bile acid excretion.
Communications biologyResting neuroendocrine markers in relation to acute mental stress-induced adrenergic reactivity profiles in adults: The SABPA study.
Physiological reports[Protective effect of moxibustion on ovarian function in mice with premature ovarian insufficiency based on mitochondrial fission].
Zhongguo zhen jiu = Chinese acupuncture & moxibustion[The role and mechanism of chemokine network in promoting osteoarthritis progression by regulating synovial macrophage heterogeneity].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryPathogenic Significance of Serum Syndecan-1 and Syndecan-4 in Psoriasis.
CutisDefective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.
Proceedings of the National Academy of Sciences of the United States of AmericaHigh-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.
Proceedings of the National Academy of Sciences of the United States of AmericaEffects of a Hypertension Management Mobile App on Urinary Sodium Excretion in Patients With Chronic Kidney Disease: Randomized Controlled Trial.
JMIR mHealth and uHealthCRLF1 Secreted by Cardiac Fibroblasts Promotes Human Hypertrophic Cardiomyopathy.
CirculationMulti-omics analysis identifies CCNB1 as a cell cycle factor driving glioblastoma progression and its inhibition by resveratrol.
PloS oneMammosphere Assay Reveals Api5-Induced Stemness in Non-Tumorigenic Breast Epithelial Cell Lines.
Journal of visualized experiments : JoVEAmniotic Suspension Allograft and Bone Marrow Aspirate Concentrate Results in Highly Variable Proinflammatory Cytokines in a Coculture Model of Osteoarthritis.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationAssociações
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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.
- Ophiopogonin D Alleviates Nonalcoholic Steatohepatitis via Ferroptosis Through AKT1/STAT3/HIF-1α Axis.
- Eligibility for lecanemab treatment in a French memory clinic setting.
- Multiomic characterisation of the clinical efficacy of guselkumab induction therapy in ulcerative colitis.
- Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.
- Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.
- From plant pair to gastroprotection: chemical standardization and in vivo validation of Akebiae Fructus-Hoveniae semen against ethanol-mediated mucosal damage.
- Phellopterin Inhibits Inflammation and Relieves Cartilage Degradation by Suppressing MAPK Signaling in Osteoarthritis.
- Targeting PI3Kγ anchoring enhances CFTR membrane localization and modulator efficacy via PKD1.
- DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation.
- A Self-Assembling Nanomodulator for Synergistic Therapy of Intracerebral Hemorrhage.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79187(Orphanet)
- MONDO:0019232(MONDO)
- GARD:18963(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q55788554(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
