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Topic Review
GRN Gene
Granulin precursor
  • 777
  • 22 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 6
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement.
  • 777
  • 23 Dec 2020
Topic Review
Idiopathic Inflammatory Myopathy
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles).
  • 777
  • 23 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.
  • 777
  • 23 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.
  • 777
  • 24 Dec 2020
Topic Review
MYH3 Gene
myosin heavy chain 3
  • 776
  • 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").  
  • 776
  • 23 Dec 2020
Topic Review
Lamellar Ichthyosis
Lamellar ichthyosis is a condition that mainly affects the skin.
  • 776
  • 23 Dec 2020
Topic Review
RGS9 Gene
regulator of G protein signaling 9
  • 776
  • 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.
  • 776
  • 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.
  • 776
  • 24 Dec 2020
Topic Review
Epigenetics and Cellular Metabolism
Epigenetics refers to the regulatory code that dictates gene expression or not and can be stably inherited in the absence of a constant genomic sequence. The current research content of epigenetics mainly includes DNA methylation and hydroxylmethylation, histone modifications, chromosome remodeling, and non-coding RNA regulation. In the early stage of CRC, DNA methylation status begins to change abnormally, mainly through the hypermethylation of some CpG islands leading to the down-regulation of gene expression and genome-wide hypomethylation, which cause genome instability to participate in tumorigenesis and development.
  • 776
  • 12 Nov 2021
Topic Review
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps.
  • 775
  • 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).
  • 775
  • 24 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.
  • 775
  • 24 Dec 2020
Topic Review
EMD Gene
Emerin: The EMD gene provides instructions for making a protein called emerin. 
  • 775
  • 24 Dec 2020
Topic Review
OFD1 Gene
OFD1, centriole and centriolar satellite protein
  • 775
  • 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.
  • 775
  • 24 Dec 2020
Topic Review
GTF2I Gene
General transcription factor IIi
  • 774
  • 22 Dec 2020
Topic Review
MT-TV Gene
mitochondrially encoded tRNA valine
  • 774
  • 23 Dec 2020
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