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Topic Review
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps.
  • 769
  • 23 Dec 2020
Topic Review
Waldenström macroglobulinemia
Waldenström macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name ("macroglobulinemia").  
  • 769
  • 23 Dec 2020
Topic Review
Cerebro-facio-thoracic Dysplasia
Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic).
  • 769
  • 24 Dec 2020
Topic Review
COL2A1 Gene
collagen type II alpha 1 chain
  • 769
  • 24 Dec 2020
Topic Review
Desmoid Tumor
A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.
  • 769
  • 24 Dec 2020
Topic Review
F5 Gene
Coagulation factor V
  • 769
  • 24 Dec 2020
Topic Review
FOXL2 Gene
Forkhead box L2
  • 769
  • 25 Dec 2020
Topic Review
TNNI2 Gene
Troponin I2, fast skeletal type: The TNNI2 gene provides instructions for making one form of a protein called troponin I.
  • 769
  • 25 Dec 2020
Topic Review
ZNF341 Gene
Zinc finger protein 341
  • 769
  • 24 Dec 2020
Topic Review
TAP2 Gene
Transporter 2, ATP binding cassette subfamily B member: The TAP2 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 768
  • 24 Dec 2020
Topic Review
Bunion
A bunion, known technically as hallux valgus, is a bony bump on the side of the foot at the base of the big toe. Bunions develop slowly as pressure on the joint at the base of the big toe causes the toe to move out of place, leaning inward toward the second toe. Because this joint carries a lot of weight during activities like standing and walking, bunions can cause foot pain, stiffness, redness, and swelling. Calluses may form where the big toe and second toe rub together or on the ball of the foot. Unless they are treated, bunions get worse over time, and it may become difficult to wear regular shoes or walk without pain. Bunions can occur in one or both feet.
  • 768
  • 24 Dec 2020
Topic Review
Dupuytren Contracture
Dupuytren contracture is characterized by a deformity of the hand in which the joints of one or more fingers cannot be fully straightened (extended); their mobility is limited to a range of bent (flexed) positions. The condition is a disorder of connective tissue, which supports the body's muscles, joints, organs, and skin and provides strength and flexibility to structures throughout the body. In particular, Dupuytren contracture results from shortening and thickening of connective tissues in the hand, including fat and bands of fibrous tissue called fascia; the skin is also involved.
  • 768
  • 24 Dec 2020
Topic Review
Biological Mechanisms Causing Religiosity
The evolutionary psychology of religion is the study of religious belief using evolutionary psychology principles. It is one approach to the psychology of religion. As with all other organs and organ functions, the brain's functional structure is argued to have a genetic basis, and is therefore subject to the effects of natural selection and evolution. Evolutionary psychologists seek to understand cognitive processes, religion in this case, by understanding the survival and reproductive functions they might serve.
  • 768
  • 17 Nov 2022
Topic Review
Diseases Associated with the Mother’s Curse
The mitochondrion was characterized for years as the energy factory of the cell, but now its role in many more cellular processes is recognized. The mitochondrion and mitochondrial DNA (mtDNA) also possess a set of distinct properties, including maternal inheritance, that creates the Mother’s Curse phenomenon. As mtDNA is inherited from females to all offspring, mutations that are harmful to males tend to accumulate more easily. The Mother’s Curse is associated with various diseases, and has a significant effect on males, in many cases even affecting their reproductive ability. Sometimes, it even leads to reproductive isolation, as in crosses between different populations, the mitochondrial genome cannot cooperate effectively with the nuclear one resulting in a mito-nuclear incompatibility and reduce the fitness of the hybrids. This phenomenon is observed both in the laboratory and in natural populations, and have the potential to influence their evolution and speciation. Therefore, it turns out that the study of mitochondria is an exciting field that finds many applications, including pest control, and it can shed light on the molecular mechanism of several diseases, improving successful diagnosis and therapeutics. Finally, mito-nuclear co-adaptation, paternal leakage, and kin selection are some mechanisms that can mitigate the impact of the Mother’s Curse. Since mitochondria play an important role in many pathways and cellular processes, they are involved in the pathogenesis of many diseases, and thus, the accumulation of mutations in mtDNA can have a serious impact on health and fitness, especially for males, due to its maternal inheritance. 
  • 768
  • 11 Mar 2024
Topic Review
Mosaic Variegated Aneuploidy Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
  • 767
  • 23 Dec 2020
Topic Review
Autosomal Dominant Vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.
  • 767
  • 24 Dec 2020
Topic Review
Renal Tubular Acidosis with Deafness
Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss.
  • 767
  • 24 Dec 2020
Topic Review
OFD1 Gene
OFD1, centriole and centriolar satellite protein
  • 767
  • 24 Dec 2020
Topic Review
ACAD9 Deficiency
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.
  • 766
  • 23 Dec 2020
Topic Review
RGS9 Gene
regulator of G protein signaling 9
  • 766
  • 24 Dec 2020
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