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Topic Review
MPZ Gene
myelin protein zero
  • 729
  • 23 Dec 2020
Topic Review
Costello Syndrome
Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.
  • 729
  • 24 Dec 2020
Topic Review
FOXC1 Gene
Forkhead box C1
  • 729
  • 25 Dec 2020
Topic Review
Role of Enhancer-Mediated Transcriptional Regulation in Precision Biology
The emergence of precision biology has been driven by the development of advanced technologies and techniques in high-resolution biological research systems. Enhancer-mediated transcriptional regulation, a complex network of gene expression and regulation in eukaryotes, has attracted significant attention as a promising avenue for investigating the underlying mechanisms of biological processes and diseases. To address biological problems with precision, large amounts of data, functional information, and research on the mechanisms of action of biological molecules is required to address biological problems with precision. Enhancers, including typical enhancers and super enhancers, play a crucial role in gene expression and regulation within this network. The identification and targeting of disease-associated enhancers hold the potential to advance precision medicine.
  • 729
  • 05 Jul 2023
Topic Review
Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).  
  • 728
  • 23 Dec 2020
Topic Review
CYP21A2 Gene
Cytochrome P450 Family 21 Subfamily A Member 2
  • 728
  • 23 Dec 2020
Topic Review
WNT5A Gene
Wnt family member 5A: The WNT5A gene is part of a large family of WNT genes, which play critical roles in development starting before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body.
  • 728
  • 24 Dec 2020
Topic Review
FKBP10 Gene
FKBP prolyl isomerase 10
  • 728
  • 25 Dec 2020
Topic Review
Pseudogene Transcripts in Head/Neck Cancer
Once considered nonfunctional, pseudogene transcripts are now known to provide valuable information for cancer susceptibility, including head and neck cancer (HNC), a serious health problem worldwide, with about 50% unimproved overall survival over the last decades. The present review focuses on the role of pseudogene transcripts involved in HNC risk and prognosis. Our study can guide new research to HNC understanding and development of new target therapies.
  • 728
  • 29 Mar 2022
Topic Review
In Utero Origins of Acute Leukemia in Children
Acute leukemias, mainly consisting of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), comprise a major diagnostic group among hematologic cancers. Due to the early age at onset of ALL, particularly, it has long been suspected that acute leukemias of childhood may have an in utero origin. 
  • 728
  • 23 Feb 2024
Topic Review
LCAT Gene
Lecithin-cholesterol acyltransferase
  • 728
  • 23 Dec 2020
Topic Review
Cytogenetic Abnormalities of Extramedullary Multiple Myeloma
Extramedullary multiple myeloma (or extramedullary disease, EMD) is an aggressive form of multiple myeloma (MM) that occurs when malignant plasma cells become independent of the bone marrow microenvironment. This may occur alongside MM diagnosis or in later stages of relapse and confers an extremely poor prognosis. In the era of novel agents and anti-myeloma therapies, the incidence of EMD is increasing, making this a more prevalent and challenging cohort of patients. Therefore, understanding the underlying mechanisms of bone marrow escape and EMD driver events is increasingly urgent. 
  • 727
  • 11 Jul 2023
Topic Review
RAD21 Gene
RAD21 cohesin complex component
  • 726
  • 23 Dec 2020
Topic Review
Corticosterone Methyloxidase Deficiency
Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
  • 726
  • 24 Dec 2020
Topic Review
MVK Gene
mevalonate kinase
  • 725
  • 23 Dec 2020
Topic Review
NFKBIA Gene
NFKB inhibitor alpha
  • 725
  • 23 Dec 2020
Topic Review
Iron-Refractory Iron Deficiency Anemia
Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.
  • 725
  • 23 Dec 2020
Topic Review
Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2.
  • 725
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).  
  • 725
  • 23 Dec 2020
Topic Review
Adenosine Deaminase 2 Deficiency
Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.
  • 725
  • 24 Dec 2020
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