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Topic Review
TNFRSF11A Gene
TNF receptor superfamily member 11a: The TNFRSF11A gene provides instructions for making a protein called receptor activator of NF-κB (RANK).
  • 882
  • 25 Dec 2020
Topic Review
TNNT3 Gene
Troponin T3, fast skeletal type: The TNNT3 gene provides instructions for making one form of a protein called troponin T.
  • 882
  • 25 Dec 2020
Topic Review
Genome Editing in Parkinson’s Disease
Gene editing has recently emerged as an innovative disease-modifying treatment alternative based on editing gene sequences or altering their expression profiles. Gene therapies have the potential to permanently fix the underlying causes of the disease, which is not yet possible for most neurodegenerative diseases. For more than two decades, site-directed genome editing has been possible using various molecules capable of recognizing and cleaving specific DNA sequences, such as zinc-finger nucleases and transcription activator-like effector nucleases (TALENs). Although these techniques represented the beginning of precise genome editing and its incursion into medical treatments, they are costly and challenging due to the complex nuclease design process. A major revolution in genome engineering came with discovering CRISPR/Cas systems and their direct application as gene-editing platforms in mammalian cells.
  • 882
  • 03 Sep 2021
Topic Review
Histone and Oncohistone Characterization via Yeast Models
Understanding the molecular basis of cancer initiation and progression is critical in developing effective treatment strategies. Mutations in genes encoding histone proteins that drive oncogenesis have been identified, converting these essential proteins into “oncohistones”. Understanding how oncohistone mutants, which are commonly single missense mutations, subvert the normal function of histones to drive oncogenesis requires defining the functional consequences of such changes. Histones genes are present in multiple copies in the human genome with 15 genes encoding histone H3 isoforms, the histone for which the majority of oncohistone variants have been analyzed thus far. With so many wildtype histone proteins being expressed simultaneously within the oncohistone, it can be difficult to decipher the precise mechanistic consequences of the mutant protein. In contrast to humans, budding and fission yeast contain only two or three histone H3 genes, respectively. Furthermore, yeast histones share ~90% sequence identity with human H3 protein. Its genetic simplicity and evolutionary conservation make yeast an excellent model for characterizing oncohistones. 
  • 882
  • 11 Jan 2024
Topic Review
X-linked Infantile Spinal Muscular Atrophy
X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia).
  • 881
  • 24 Dec 2020
Topic Review
Recent Advances in Syndactyly
Syndactyly (SD) is a congenital digital malformation characterized by webbing of the fingers and toes. Syndactyly is derived from the Greek word “syn”, meaning together, and “dactylos”, meaning digits. It is one of the most common hereditary limb disorders, with a prevalence of 3–10 in every 10,000 births, although higher estimates in the range of 10–40/10,000 have been reported.
  • 881
  • 24 Jun 2022
Topic Review
KRAS Gene
KRAS proto-oncogene, GTPase
  • 880
  • 23 Dec 2020
Topic Review
Frasier Syndrome
Frasier syndrome is a condition that affects the kidneys and genitalia.
  • 880
  • 25 Dec 2020
Topic Review
Spastic Paraplegia Type 3A
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 879
  • 23 Dec 2020
Topic Review
CLN6 Disease
CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood.
  • 879
  • 24 Dec 2020
Topic Review
PAX2 Gene
paired box 2
  • 879
  • 25 Dec 2020
Topic Review
Retrospective Genetic Analysis in Sweet Watermelon
Understanding the genetic basis of a crop’s qualitative and quantitative traits is vital to designing market preferred varieties. Sweet watermelon [Citrullus lanatus (Thunb.) Matsum. and Nakai var. lanatus; 2n = 2x = 22] is an important cucurbit crop belonging to the family Cucurbitaceae of the genus Citrullus. 
  • 879
  • 21 Jul 2022
Topic Review
FOXP2 Gene
Forkhead box P2
  • 878
  • 25 Dec 2020
Topic Review
Fatty Acid Hydroxylase-associated Neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.
  • 878
  • 25 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 878
  • 25 Dec 2020
Topic Review
POLG Gene
DNA polymerase gamma, catalytic subunit
  • 878
  • 25 Dec 2020
Topic Review
Genetic Markers in Lung Cancer
Lung cancer is the most often diagnosed cancer in the world and the most frequent cause of cancer death. The prognosis for lung cancer is relatively poor and 75% of patients are diagnosed at its advanced stage. The currently used diagnostic tools are not sensitive enough and do not enable diagnosis at the early stage of the disease. Therefore, searching for new methods of early and accurate diagnosis of lung cancer is crucial for its effective treatment. Lung cancer is the result of multistage carcinogenesis with gradually increasing genetic and epigenetic changes. Screening for the characteristic genetic markers could enable the diagnosis of lung cancer at its early stage. Better understanding of lung cancer carcinogenesis and possibilities of novel molecular strategies and techniques in the identification of lung cancer genetic markers is crucial for lung cancer diagnosis at its early-stage, as well as for therapeutic decision making.
  • 877
  • 02 Jul 2020
Topic Review
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function.
  • 877
  • 23 Dec 2020
Topic Review
Hypochondroplasia
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
  • 877
  • 23 Dec 2020
Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 877
  • 23 Dec 2020
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