СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ

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PROGRESSIVE SUPRANUCLEAR PALSY-LIKE SYNDROME
  • MOLECULAR CAUSES
      ◊ Mutations in bassoon


  • PANCREATITIS ACUTE
  • MOLECULAR CAUSES
      ◊ Calmodulin


  • POLYDACTYLY
  • MOLECULAR CAUSES
      ◊Affinity-optimizing enhancer variants disrupt development(polydactyly)


  • PPANCREATIC DUCTAL ADENOCARCINOMA (PDAC)
  • 3D ORGANOIDS
      ◊ Pancreas 3D Organoids: as a Research Platform for Pancreatic Cancer


  • PARKINSON's DISEASE
  • ANIMAL MODELS
      ◊ RNAi tyrosine hydroxylase
  • BIOCHEMICAL PATHWAYS
      ◊ alpha-synuclein

  •   ◊ Role of COX2
      ◊ Role of C-terminal calcium binding of α-synuclein
      ◊ Role of Synaptic vesicle glycoprotein 2C
      ◊ miRNome-Wide Profiling in a Neuronal Cell Model of Synucleinopathy Implies Involvement of Cell Cycle Genes
  • THEORY
      ◊Description
      ◊"Threshold theory"
  • Fe role
  • MITOCHONDRIAL DYSFUNCTION
      ◊ Mitochondrial DNA changes cholinergic neurons
      ◊ Role pink1 and parkin
  • MOTOR DEFICITS
      ◊ Endocannabinoids and striatal LTD


  • PNH

    PATELLAR CONGENITAL ANOMALIES
  • SYNDROMS
      ◊ Genetics


  • PERITONEAL MESOTHELIOMA
  • GENETICS
      ◊ ALK Rearrangemen


  • PLACENTATION DEFECTS
  • GENETICS
      ◊ Embryonic lethal mouse mutants


  • POLYDACTYLY
  • GENETICS AND CLASSIFICATION
      ◊ Phenotypes
      ◊ Role of Gata6-Dependent GLI3 Repressor Function
  • ANIMAL MODEL
      ◊ Gli3 and Alx4


  • POLYCYSTIC KIDNEY DISEASE
  • Cilia-dependent pathway
  • Somatic and germline mosaicism
  • POMPE DISEASE
  • mTOR signaling as a strategy for the treatment of Pompe disease Pompe disease
    Pre-eclampsia
    PPH
  • PRIMARY IMMUNODEFICIENCY DISEASES
  • GENOME-WIDE ASSOCIATION STUDY Application of induced pluripotent stem cells to primary immunodeficiency diseases

    PRIMARY SCLEROSING CHOLANGITIS
  • INDUCED PLURIPOTENT STEM CELLS New risk loci

    PRION DISEASE
  • Diagnosis and Therapy

    Polycystic Kidney Disease 1(PKD1)
  • PROGERIA SYNDROMES
  • PREMATURE AGEING
      ◊ Genetic mechanisms
      ◊ Nestor–Guillermo progeria


  • PROGRANULIN IN DISEASES
  • MECHANISMS
      ◊ Progranulin a therapeutic target for multiple diseases
  • PROLAPSE MITRAL VALVE
  • GENETUICS
      ◊ GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse


  • PSICHICAL DISEASE
  • NEURAL CONTOUR
      ◊ Anomaly


  • PULMONARY ARTERIAL HYPERTENSION
  • ASSOCIATED WITH HEART AND LUNG DEVELOPMENTAL DEFECTS
      ◊ Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects


  • PULMONARY VENO-OCCLUSIVE DISEASE
  • GENETIC MUTATIONS
      ◊
    EIF2AK4