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Topic Review
Primary Carnitine Deficiency
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
  • 899
  • 24 Dec 2020
Topic Review
Dubin-Johnson Syndrome
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. 
  • 899
  • 24 Dec 2020
Topic Review
Histone and Oncohistone Characterization via Yeast Models
Understanding the molecular basis of cancer initiation and progression is critical in developing effective treatment strategies. Mutations in genes encoding histone proteins that drive oncogenesis have been identified, converting these essential proteins into “oncohistones”. Understanding how oncohistone mutants, which are commonly single missense mutations, subvert the normal function of histones to drive oncogenesis requires defining the functional consequences of such changes. Histones genes are present in multiple copies in the human genome with 15 genes encoding histone H3 isoforms, the histone for which the majority of oncohistone variants have been analyzed thus far. With so many wildtype histone proteins being expressed simultaneously within the oncohistone, it can be difficult to decipher the precise mechanistic consequences of the mutant protein. In contrast to humans, budding and fission yeast contain only two or three histone H3 genes, respectively. Furthermore, yeast histones share ~90% sequence identity with human H3 protein. Its genetic simplicity and evolutionary conservation make yeast an excellent model for characterizing oncohistones. 
  • 899
  • 11 Jan 2024
Topic Review
Genetic Comparison of SCA Cohorts
Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. 
  • 898
  • 25 Dec 2020
Topic Review
TRPS1 Gene
Transcriptional repressor GATA binding 1: The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes.
  • 898
  • 25 Dec 2020
Topic Review
Primary Myelofibrosis
Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.
  • 898
  • 04 Jan 2021
Topic Review
MOCS1 Gene
molybdenum cofactor synthesis 1
  • 897
  • 22 Dec 2020
Topic Review
KRT5 Gene
Keratin 5
  • 897
  • 23 Dec 2020
Topic Review
Sjögren Syndrome
Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but it can occur at any age.
  • 897
  • 25 Dec 2020
Topic Review
Primary Ciliary Dyskinesia
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.
  • 897
  • 04 Jan 2021
Topic Review
IGF2 Gene
Insulin like growth factor 2
  • 896
  • 23 Dec 2020
Topic Review
Benign Recurrent Intrahepatic Cholestasis
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.
  • 896
  • 24 Dec 2020
Topic Review
Polycystic Kidney Disease
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
  • 896
  • 24 Dec 2020
Topic Review
PKLR Gene
pyruvate kinase L/R
  • 896
  • 25 Dec 2020
Topic Review
Neurofibromatosis Type 1
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
  • 896
  • 20 Jan 2021
Topic Review
Sotos Syndrome
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.
  • 895
  • 23 Dec 2020
Topic Review
Kindler Syndrome
Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 895
  • 23 Dec 2020
Topic Review
Manitoba Oculotrichoanal Syndrome
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).
  • 894
  • 23 Dec 2020
Topic Review
Lennox-Gastaut Syndrome
Lennox-Gastaut syndrome is a severe condition characterized by recurrent seizures (epilepsy) that begin early in life.
  • 894
  • 23 Dec 2020
Topic Review
Biotinidase Deficiency
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
  • 894
  • 24 Dec 2020
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