СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ


Hippocrates and Galenos, the leading medical doctors of their times and creators of the theory that many diseases are of poisonous origin. Thirteenth century fresco in the crypt of the Domo of Anagni near Rome, Italy. The theoretical and therapeutic concepts of these two masters dominated European medical education and practice until the seventeenth century. The text on the paper in front of Galenos (left) reads "Mundi presentis seres manet ex elementis", meaning "The present world's connection persists on the basis of the elements". The text on the paper in front of Hippocrates (right) reads "Ex his formantur que sunt quecu(m)q(ue) chreantur", meaning "Of these (all) is formed which exists and which will be created". The four basic elements were represented by air, fire, earth and water. Image courtesy of the Art Archive/Anagni Cathedral Italy/Dagli Orti (A).



D

DEAFNESS
  • MicroRNA
      ◊Mechanisms
  • NON-SYNDROMIC, AUTOSOMAL-RECESSIVE
      ◊Genetics
      ◊MIR96
  • SEX-LINKED DEAFNESS
      ◊Genetics
      ◊ Mouse models
  • HEARING LOSS and INNER EAR MALFORMATION
      ◊Chondrocyte-Specific Smad4 Gene Conditional Knockout
      ◊ The BEACH protein LRBA is required for hair bundle maintenance



  • DEFECTS
  • BLASTOGENESIS
      ◊ characterization
  • СONGENITAL of HEART
      ◊ genetics
  • GENITOURINARY
      ◊ modelling in mice
  • INNER EAR
      ◊mouse knockouts

  • DEMENTIA
  • MECHANISMS
      ◊ Pericyte degeneration causes white matter dysfunction
  • DEPRESSION
  • MECHANISMS Astrocyte dysfunction drives abnormal resting-state functional connectivity in depression
  • MEASURED
      ◊ Pathways to depression: Dynamic associations between neural responses to appetitive cues in the environment, stress, and the development of illness
  • DEVELOPMENTAL DYSPLASIA OF THE HIP (DDH
  • GENETICS
      ◊ Genetic variant of WIF1 gene is functionally associated with developmental dysplasia of the hip in Han Chinese
  • DEPRESSION

  • DIABETES
  • Description
  • GENETIC CONTROL
      ◊GLIS3 is required for beta cell function
       •MiR-155 Enhances Insulin Sensitivity
       •hormone complex of FABP4 and nucleoside kinases regulates islet function
  • DIABETIC CARDIOMYOPATHY
  • NON-CODING RNA
      ◊The interregulatory circuit between non-coding RNA and apoptotic signaling in diabetic cardiomyopathy

  • DIABETIC KIDNEYS
      ◊TRPС6 Chanells
  • DIABETIC NEUROPATHY
      ◊Hyperalgesia
  • Genetic defects
  • TYPE 1
      ◊Nramp1
  • TYPE 2
      ◊& Obesity
      ◊htSNPs HNF4α
      ◊ Sox5 regulates beta-cell phenotype DIABETIC PREGNANCY
  • FETAL METABOLISM
      ◊Atlas of fetal metabolism during mid-to-late gestation and diabetic pregnancy

  • DIABETIC RETINOPATHY
      ◊ Small GTPase ARF6 controls VEGFR2 in diabetic retinopathy

  •   ◊ Risk Factors
       •4 loci
    DiGEORGE SYNDROME
  • Описание
  • GEN TBX1 et al/
      ◊Retinoic acid
      ◊Craniofacial Phenotypes and Genetics

  • DIAGNOSIS
  • Preimplantation genetic Chip