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Topic Review
NOTCH3 Gene
notch 3
  • 867
  • 24 Dec 2020
Topic Review
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.
  • 867
  • 24 Dec 2020
Topic Review
FKTN Gene
Fukutin: The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. 
  • 867
  • 25 Dec 2020
Topic Review
THPO Gene
Thrombopoietin: The THPO gene provides instructions for making a protein called thrombopoietin that promotes the growth and division (proliferation) of cells. 
  • 867
  • 25 Dec 2020
Topic Review
TMCO1 Gene
Transmembrane and coiled-coil domains 1: The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow.
  • 867
  • 25 Dec 2020
Topic Review
PAX6 Gene
paired box 6
  • 867
  • 25 Dec 2020
Topic Review
Pathogenesis and Therapeutics for Huntington’s Disease
Huntington’s disease (HD) is a debilitating neurodegenerative genetic disorder caused by an expanded polyglutamine-coding (CAG) trinucleotide repeat in the huntingtin (HTT) gene. HD behaves as a highly penetrant dominant disorder likely acting through a toxic gain of function by the mutant huntingtin protein. Widespread cellular degeneration of the medium spiny neurons of the caudate nucleus and putamen are responsible for the onset of symptomology that encompasses motor, cognitive, and behavioural abnormalities. 
  • 867
  • 06 Sep 2023
Topic Review
Nonribosomal Peptide Synthetases in Animals
Nonribosomal peptide synthetases (NRPSs) synthesize a range of peptide products with a wide spectrum of biological functions including antibiotic and siderophore activities. They are used in industrial biotechnology to produce various pharmaceuticals such as cytostatics and immunosuppressants. NRPSs are widespread among both prokaryotes and eukaryotes.
  • 867
  • 18 Sep 2023
Topic Review
PCSK9 Gene
Proprotein convertase subtilisin/kexin type 9
  • 867
  • 04 Jan 2021
Topic Review
SMARD1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy.
  • 866
  • 23 Dec 2020
Topic Review
Ornithine Translocase Deficiency
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 866
  • 24 Dec 2020
Topic Review
ABCB11 Gene
ATP binding cassette subfamily B member 11
  • 866
  • 24 Dec 2020
Topic Review
Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.
  • 866
  • 24 Dec 2020
Topic Review
ELP1 Gene
Elongator complex protein 1: The ELP1 gene provides instructions for making a protein called elongator complex protein 1 (ELP1). 
  • 866
  • 24 Dec 2020
Topic Review
ADAR Gene
adenosine deaminase, RNA specific
  • 866
  • 24 Dec 2020
Topic Review
NSCLC Concurrent EGFR Genomic Alterations
Non-small cell lung cancer (NSCLC) accounts for roughly 85–90% of overall cases of lung malignancies and includes different histological subtypes. The treatment landscape of NSCLC has been terrifically changed by the discovery of Epidermal Growth Factor Receptor (EGFR) mutations and their response to the EGFR tyrosine kinase inhibitors (TKIs). EGFR gene aberrations have been defined as oncogenic driver mutations which occurred in 5–17% of lung adenocarcinomas among Caucasian patients, while in approximately 45–55% of the Asian population. Nowadays, EGFR-TKIs are the standard of care for patients affected by advanced EGFR-mutated NSCLC considering their established prolonged progression-free survival (PFS) in comparison to the standard chemotherapy approach. However, TKIs clinical efficacy remains restricted due to the development of resistance, which has been hardly clarified. The recent technological breakthrough and the advent of next-generation sequencing (NGS) platforms have enabled comprehensive profiling of the genome, providing novel evidence of co-existing multiple driver alterations.
  • 866
  • 22 Jun 2021
Topic Review
Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.
  • 865
  • 23 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 865
  • 24 Dec 2020
Topic Review
POMT1 Gene
protein O-mannosyltransferase 1
  • 865
  • 25 Dec 2020
Topic Review
Glycogen Storage Disease Type III
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
  • 864
  • 23 Dec 2020
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