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Topic Review
Tyrosine Hydroxylase Deficiency
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.  
  • 895
  • 23 Dec 2020
Topic Review
TAP1 Gene
Transporter 1, ATP binding cassette subfamily B member: The TAP1 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 895
  • 24 Dec 2020
Topic Review
Czech Dysplasia
Czech dysplasia is an inherited condition that affects joint function and bone development.
  • 895
  • 19 Apr 2021
Topic Review
SLC35A2-Congenital Disorder of Glycosylation
SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals.
  • 895
  • 24 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.
  • 894
  • 02 Jul 2020
Topic Review
TUBB3 Gene
Tubulin beta 3 class III.
  • 894
  • 23 Dec 2020
Topic Review
Cytochrome P450 Oxidoreductase Deficiency
Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.
  • 894
  • 24 Dec 2020
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).
  • 894
  • 24 Dec 2020
Topic Review
FLCN Gene
Folliculin
  • 894
  • 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.
  • 894
  • 25 Dec 2020
Topic Review
Genotype-Phenotype Correlations
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4.
  • 894
  • 19 Jul 2021
Topic Review
Hereditary Spherocytosis
Hereditary spherocytosis is a condition that affects red blood cells.
  • 893
  • 23 Dec 2020
Topic Review
TGIF1 Gene
TGFB induced factor homeobox 1: The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain).
  • 893
  • 25 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 892
  • 25 Dec 2020
Topic Review
POLG Gene
DNA polymerase gamma, catalytic subunit
  • 892
  • 25 Dec 2020
Topic Review
Mitochondrial Microproteins in Athletic Performance and Age-Related Diseases
Mitochondrial microproteins (also called mitochondrial-derived peptides) are novel small proteins encoded in the mitochondrial DNA and modulate athletic performance and age-related diseases.
  • 892
  • 03 Feb 2023
Topic Review
Cantú Syndrome
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
  • 891
  • 24 Dec 2020
Topic Review
MicroRNA in Liver Fibrosis
Several miRNAs are associated with organ-specific and systemic fibrosis in the liver. Individual expression of miRNAs in plasma or serum is useful for liver fibrosis detection. In addition, some miRNAs can distinguish between early and late fibrosis with high sensitivity and specificity equal to or greater than the APRI and Fib-4 index.
  • 891
  • 03 Aug 2021
Topic Review
Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
  • 890
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type VII
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 890
  • 23 Dec 2020
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