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All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
ASPM Gene
abnormal spindle microtubule assembly
  • 773
  • 24 Dec 2020
Topic Review
SAA1 Gene
serum amyloid A1
  • 773
  • 24 Dec 2020
Topic Review
DKC1 Gene
Dyskerin Pseudouridine Synthase 1: The DKC1 gene provides instructions for making a protein called dyskerin. 
  • 773
  • 24 Dec 2020
Topic Review
BCS1L Gene
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • 773
  • 24 Dec 2020
Topic Review
ORC4 Gene
origin recognition complex subunit 4
  • 773
  • 24 Dec 2020
Topic Review
Reproductive Journey in Genomic Era
The aim of this entry is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the “reproductive journey”.
  • 773
  • 29 Dec 2020
Topic Review
GRN Gene
Granulin precursor
  • 772
  • 22 Dec 2020
Topic Review
Metachromatic Leukodystrophy
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
  • 772
  • 23 Dec 2020
Topic Review
TTPA Gene
Alpha tocopherol transfer protein.
  • 772
  • 23 Dec 2020
Topic Review
CNGB3 Gene
cyclic nucleotide gated channel beta 3
  • 772
  • 19 Apr 2021
Topic Review
SIX1 Gene
SIX homeobox 1
  • 772
  • 24 Dec 2020
Topic Review
Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems.
  • 772
  • 25 Dec 2020
Topic Review
Epigenetic/non-epigenetic mechanisms of HIV control
The persistence of latent HIV provirus pools in different resting CD4+ cell subsets remains the greatest obstacle in the current efforts to treat and cure HIV infection. Recent efforts to purge out latently infected memory CD4+ T-cells using latency-reversing agents have failed in clinical trials. This review discusses the epigenetic and non-epigenetic mechanisms of HIV latency control, major limitations of the current approaches of using latency-reversing agents to reactivate HIV latency in resting CD4+ T-cells, and potential solutions to these limitations.
  • 772
  • 16 Apr 2021
Topic Review
Joubert Syndrome
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 771
  • 23 Dec 2020
Topic Review
EMD Gene
Emerin: The EMD gene provides instructions for making a protein called emerin. 
  • 771
  • 24 Dec 2020
Topic Review
SRD5A2 Gene
Steroid 5 alpha-reductase 2: The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. 
  • 770
  • 22 Dec 2020
Topic Review
GRACILE Syndrome
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
  • 770
  • 23 Dec 2020
Topic Review
Idiopathic Inflammatory Myopathy
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles).
  • 770
  • 23 Dec 2020
Topic Review
TPP1 Gene
Tripeptidyl peptidase 1: The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1.
  • 770
  • 25 Dec 2020
Topic Review
MYH3 Gene
myosin heavy chain 3
  • 769
  • 23 Dec 2020
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