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Topic Review
Maturity-Onset Diabetes of the Young
Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high blood sugar levels. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood sugar arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.
  • 798
  • 23 Dec 2020
Topic Review
Nearsightedness
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.
  • 798
  • 23 Dec 2020
Topic Review
Nephronophthisis
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
  • 798
  • 23 Dec 2020
Topic Review
Buschke-Ollendorff Syndrome
Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.
  • 798
  • 24 Dec 2020
Topic Review
Protein S Deficiency
Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.
  • 798
  • 24 Dec 2020
Topic Review
Esophageal Atresia/Tracheoesophageal Fistula
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result.
  • 798
  • 25 Dec 2020
Topic Review
8p11 Myeloproliferative Syndrome
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.
  • 797
  • 23 Dec 2020
Topic Review
Langerhans Cell Histiocytosis
Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body.
  • 797
  • 23 Dec 2020
Topic Review
CRISPR/Cas9 as a Mutagenic Factor
The discovery of the CRISPR/Cas9 microbial adaptive immune system has revolutionized the field of genetics, by greatly enhancing the capacity for genome editing. CRISPR/Cas9-based editing starts with DNA breaks (or other lesions) predominantly at target sites and, unfortunately, at off-target genome sites. DNA repair systems differing in accuracy participate in establishing desired genetic changes but also introduce unwanted mutations, that may lead to hereditary, oncological, and other diseases. New approaches to alleviate the risks associated with genome editing include attenuating the off-target activity of editing complex through the use of modified forms of Cas9 nuclease and single guide RNA (sgRNA), improving delivery methods for sgRNA/Cas9 complex, and directing DNA lesions caused by the sgRNA/Cas9 to non-mutagenic repair pathways.
  • 797
  • 26 Jan 2024
Topic Review
Prothrombin Thrombophilia
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels.
  • 797
  • 24 Dec 2020
Topic Review
SMN2 Gene
survival of motor neuron 2, centromeric
  • 797
  • 24 Dec 2020
Topic Review
Trichothiodystrophy
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
  • 796
  • 23 Dec 2020
Topic Review
Adiposis Dolorosa
Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50.  
  • 796
  • 24 Dec 2020
Topic Review
African Iron Overload
African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet.
  • 796
  • 24 Dec 2020
Topic Review
TAF1 Gene
TATA-box binding protein associated factor 1: The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). 
  • 796
  • 24 Dec 2020
Topic Review
F13B Gene
Coagulation factor XIII B chain
  • 796
  • 24 Dec 2020
Topic Review
Host Genetics and Microbiota Interactions in Colorectal Cancer
The role of microbiota in colorectal cancer has been studied since alterations in its composition were observed. In addition, there are more and more pieces of evidence that microbiota could be implicated in colorectal cancer progression. Thus, the components of the microbiota could be biomarkers for the diagnosis and prognosis of colorectal cancer. In addition, it is important to address how the microbiota interacts with the host and how the host shapes the microbiota, in order to understand the biological pathways and mechanisms involved in their relationship and the consequences of their interactions in colorectal cancer. 
  • 796
  • 09 Nov 2022
Topic Review
FAT4 Gene
FAT atypical cadherin 4
  • 796
  • 25 Dec 2020
Topic Review
Episodic Ataxia
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.
  • 796
  • 25 Dec 2020
Topic Review
Glycogen Storage Disease Type I
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
  • 795
  • 23 Dec 2020
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