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Topic Review
FERMT1 Gene
Fermitin family member 1
  • 758
  • 25 Dec 2020
Topic Review
STAT3 Gene
Signal transducer and activator of transcription 3: The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions for making proteins that are part of essential chemical signaling pathways within cells. 
  • 757
  • 22 Dec 2020
Topic Review
UBE3A Gene
Ubiquitin protein ligase E3A.
  • 757
  • 23 Dec 2020
Topic Review
MBD5 Gene
Methyl-CpG binding domain protein 5
  • 757
  • 23 Dec 2020
Topic Review
Wiedemann-Rautenstrauch Syndrome
Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected.
  • 757
  • 23 Dec 2020
Topic Review
Purine Nucleoside Phosphorylase Deficiency
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 757
  • 24 Dec 2020
Topic Review
Chorea-Acanthocytosis
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder.
  • 757
  • 24 Dec 2020
Topic Review
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
  • 757
  • 24 Dec 2020
Topic Review
BAP1 Tumor Predisposition Syndrome
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.
  • 757
  • 24 Dec 2020
Topic Review
Eosinophil Peroxidase Deficiency
Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response.
  • 757
  • 25 Dec 2020
Topic Review
Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.
  • 757
  • 25 Dec 2020
Topic Review
lncRNAs as Clinical Biomarkers in Clinical Practice
Given their tumor-specific and stage-specific gene expression, long non-coding RNAs (lncRNAs) have demonstrated to be potential molecular biomarkers for diagnosis, prognosis, and treatment response. Particularly, the lncRNAs DSCAM-AS1 and GATA3-AS1 serve as examples of this because of their high subtype-specific expression profile in luminal B-like breast cancer. This makes them candidates to use as molecular biomarkers in clinical practice. However, lncRNA studies in breast cancer are limited in sample size and are restricted to the determination of their biological function, which represents an obstacle for its inclusion as molecular biomarkers of clinical utility. Nevertheless, due to their expression specificity among diseases, such as cancer, and their stability in body fluids, lncRNAs are promising molecular biomarkers that could improve the reliability, sensitivity, and specificity of molecular techniques used in clinical diagnosis. The development of lncRNA-based diagnostics will be useful in routine medical practice to improve patient clinical management and quality of life.
  • 757
  • 04 May 2023
Topic Review
UBA1 Gene
Ubiquitin like modifier activating enzyme 1.
  • 756
  • 23 Dec 2020
Topic Review
6q24-related Transient Neonatal Diabetes Mellitus
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.
  • 756
  • 23 Dec 2020
Topic Review
Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body.
  • 756
  • 23 Dec 2020
Topic Review
KDM6A Gene
Lysine demethylase 6A
  • 756
  • 23 Dec 2020
Topic Review
KRT10 Gene
Keratin 10
  • 756
  • 23 Dec 2020
Topic Review
PTPN11 Gene
protein tyrosine phosphatase, non-receptor type 11
  • 756
  • 23 Dec 2020
Topic Review
TFAP2A Gene
Transcription factor AP-2 alpha: The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). 
  • 756
  • 25 Dec 2020
Topic Review
Langer Mesomelic Dysplasia
Langer mesomelic dysplasia is a disorder of bone growth.
  • 756
  • 23 Dec 2020
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