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Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 898
  • 23 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.
  • 897
  • 23 Dec 2020
Topic Review
TUBB3 Gene
Tubulin beta 3 class III.
  • 897
  • 23 Dec 2020
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.
  • 897
  • 24 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.
  • 897
  • 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.
  • 897
  • 19 Jul 2021
Topic Review
Mismatch Repair Genes in Lynch Syndrome
Hereditary non-polyposis colorectal cancer is also known as Lynch syndrome. Lynch syndrome is associated with pathogenetic variants in one of the mismatch repair (MMR) genes.
  • 897
  • 28 Dec 2022
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. 
  • 896
  • 24 Dec 2020
Topic Review
FLCN Gene
Folliculin
  • 896
  • 25 Dec 2020
Topic Review
Hereditary Spherocytosis
Hereditary spherocytosis is a condition that affects red blood cells.
  • 895
  • 23 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
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).
  • 895
  • 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.
  • 895
  • 03 Aug 2021
Topic Review
SALL1 Gene
spalt like transcription factor 1
  • 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
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).
  • 894
  • 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.
  • 894
  • 03 Feb 2023
Topic Review
Cis-Regulatory Elements in Mammals
In cis-regulatory elements, enhancers and promoters with complex molecular interactions are used to coordinate gene transcription through physical proximity and chemical modifications. These processes subsequently influence the phenotypic characteristics of an organism. An in-depth exploration of enhancers and promoters can substantially enhance researchers' understanding of gene regulatory networks, shedding new light on mammalian development, evolution and disease pathways.
  • 894
  • 18 Jan 2024
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.
  • 893
  • 23 Dec 2020
Topic Review
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
  • 893
  • 24 Dec 2020
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