СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ

(латиница)
A

ABNORMAL VERTEBRAL SEGMENTATION
  • MAN
      ◊ Notch Signaling Pathway


    • ABORTION
  • RECURRENT SPONTANEOUS ABORTION
      ◊Interrelation between cytotoxic T-lymphocyte antigen-4 (+49A>G) polymorphism and recurrent spontaneous abortion


    • ACHONDROPLASIA
  • DEVELOPMENT
      ◊ pathogenesis, and therapy


    • ACUTE MYELOID LEUKEMIA
  • HOX GENE
      ◊ Regulation of HOX gene expression in AML
  • MicroRNA
      ◊ MicroRNA-22 Is a Regulator of Monocyte/Macrophage Differentiation and Acute Myeloid Leukemia

    •   ◊ Subtype-specific 3D genome alteration in acute myeloid leukaemia

    ADIOPOSITY
  • of Heart
      ◊     Epicardial fat

    • AGE-RELATED DISEASES
  • AGE-RELATED DISEASES
      ◊ Role of microRNA
      ◊ GIT2—A keystone in ageing and age-related disease
  • AGE-RELATED MACULAR DEGENERATION (AMD)
      ◊ PATHOGENESIS
       • Unstable ARMS2 mRNA
      ◊ THERAPY
       • Potential gene therapy

    • AICARDI–GOUTIERES SYNDROME
  • Genetics


    • ALLERGIC INFLAMMATION
  • tyrosine phosphatase SHP-1


    • ALPORT SYNDROME
  • MicroRNA, transcript and protein regulatory networks in Alport syndrome induced pluripotent stem cells


    • AMELOGENESIS IMPERFECTA
  • ITGB6 VARIANTS
      ◊ ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype

    AMYLOID ASSEMBLY
  • EVOLUTION OF FIBRIL
      ◊ Structural evolution of fibril polymorphs during amyloid assembly


    • ALZGEIMER's Dis.
  • AMYLOID PRECURSOR PROTEIN (APP)
      ◊ β-secretase (BACE1)
      ◊ β-secretase (BACE1)
      ◊ DAF-16, HSF-1
      ◊ Earliest accumulation of β-amyloid occurs within the default-mode network brain connectivity
      ◊ Oligomers Aβ
      ◊ NMDA receptors
  • MUTATION PROTECTS
      ◊ A Rare Genetic Mutation Protects Against Alzheimer's Disease
  • ALZHEIMER’S DISEASE MODELS
      ◊ Brain organoids
  • CEREBROVASCULAR DYSFUNCTIONS
      ◊ Description
      ◊ Role in dementia
      ◊ Role of MEOX
  • DESCRIPTION
      ◊Description
  • EARLY DIAGNOSTICS
       ◊ by BF-168
       ◊ by florbetapir F18
  • LATE-ONSET
       ◊ TOMM40 variable-length polymorphism
  • PATHOGENESIS
      ◊ Cholesterol's methabolizm
      ◊ Cholesterol's methabolites
      ◊ Cholesterol's methabolites 2
      ◊ P2Y receptors
      ◊ Protofibrils and Neurotoxicity
       • Lipids and their role in amyloid fibrils's reversion
  • ROLE
      ◊ Role caspases
      ◊ Role membralin
      ◊ Near-atomic model of microtubule-tau interactions
      ◊ A Gene Variant Linked to Alzheimer's May Disrupt Myelin Production
  • TRANSMISSIBLE
      ◊ Signs of transmissible Alzheimers seen in people who received growth hormone


    • AA Amyloidosis
    AMYOTROPHIC LATERAL SCLEROSIS (ALS)
  • GENETICS
      ◊Amyotr.Lat.Sclerosos (ALS)
      ◊ Linking with frontotemporal dementia (FTD)
      ◊ Linking with frontotemporal dementia (FTD) and potein FUS
      ◊ TIA1 Mutations: Phase Separation and Stress Granule
      ◊ U6 snRNA expression prevents toxicity in TDP-43-knockdown cells
  • VIABILITY
      ◊ Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells


    • ANGELMAN SYNDROME
  • DISRUPTED NEURONAL MATURATION Induced pluripotent stem cells


    • ANEMIA
  • description
  • FANCONI
      ◊ FA Proteins
  • role of Kgg


    • ANGELMAN Syn
      ◊ Роль Ингибитора Topoisomerase

    Aneuploidy

    ANEURYSM
  • PATHOGENESIS
      ◊ Role 5-lipoxygenase
      ◊ and Therapy


  • ANOPHTHALMIA
  • and MICROPHTHALMIA
      ◊ Copy number variation

    • ANOSMIA
  • CONGENITAL FORMS
      ◊Genetics


    • Atherosclerotic vascular disease (AVD)
    Atrioventricular canal defect (AVCD)
    Aortal Stenosis
    APERT
  • MODELLING
      ◊ Mice


    • ANKLE ARTHROPATHY
  • by HEREDITARY HEMOCHROMATOSIS
      ◊ Ankle Arthropathy in Hereditary Hemochromatosis


    • ARRHYTHMIA OF HEART
  • GENETIC CONTROL
      ◊ Disease due to mutant obscurin

    • ASHERMAN SYND.
  • CELLULAR SECRETS
      ◊ Decoding the Cellular Secrets of the Endometrium

    • ASTHMA
  • ASTHMA and ATOPIC DERMATITIS
      ◊ Interaction
  • GENES
      ◊ Description
      ◊ Asthma-susceptibility
      ◊ GPRA and AAA1
      ◊ Mfge8 (lactadherin)
  • NKT CELLS
      ◊ Risk
      ◊ Role of iNKT


    • ATAXIA
  • Ataxia-Telangiectasia
  • Episodic 2


    • ATHEROSCREROSIS
  • AORTIC MACROPHAGES
      ◊Single-Cell RNA-Seq Reveals the Transcriptional Landscape and Heterogeneity of Aortic Macrophages
  • DESCRIPTION
      ◊ Description
  • CHEMOKINES
      ◊targets in atherosclerosis
  • METHODS
      ◊ Imaging
  • Protection
      ◊ COX-2


    • ATTENTION-DEFICIT/HYPERACTIVITY DISORDER
  • FACTORS OF RISK
      ◊The Influence of Prenatal Environmental Factors on the Risk and Development of ADHD AUTISM SPECTRUM DISORDER (ASD)
  • GENETICS
      ◊ Genetics
      ◊ in the genetics clinic
      ◊ 18 new candidate genes
      ◊ Pathogenesis
      ◊ TMPRSS9 as a candidate gene
      ◊ Researchers CHOOSE Organoids to Investigate Neurodevelopment
      ◊ Revisiting the genetic architecture of autism spectrum disorders in the genomic era


  • EPIGENETICS
      ◊ impacts of pregnancy-related maternal immune activation and extracellular vesicles on immune alterations observed in autism spectrum disorder

  • INTRINSIC NETWORK
      ◊ Topography Mapping and Functional Connectivity Deficits
      ◊ Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD
  • NEUROGLIAL REACTIONS
      ◊ Cytocines
      ◊ Infant Brain Signatures of Genetic Liability for Autism
  • SEVERITY
      ◊role of MAOA
  • THEORY Mirror neirons of brain



    • AUTOIMMUNITY
  • GENETICS
      ◊The Extra X: How the Sex Chromosome Affects Autoimmunity Risk AUTOPHAGY
  • NONCANONICAL Autophagy Special Collection: Cell machinery dealing with stress and beyond


    • AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA
  • Genetic heterogeneity