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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.
  • 788
  • 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.
  • 788
  • 25 Dec 2020
Topic Review
Frataxin and Mutations linked with Disease
Frataxin, the protein implicated in Friedreich’s ataxia (FRDA), has a role in the Fe–S cluster biogenesis and possesses a well-defined structure. Several frataxin point mutations, identified in heterozygous FRDA patients, affect the protein structure and function and its binding with partners.
  • 788
  • 08 Mar 2022
Topic Review
TSPYL1 Gene
TSPY-like 1
  • 787
  • 23 Dec 2020
Topic Review
Thrombotic Thrombocytopenic Purpura
Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.
  • 787
  • 23 Dec 2020
Topic Review
Nonbullous Congenital Ichthyosiform Erythroderma
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin.
  • 787
  • 24 Dec 2020
Topic Review
Alexander Disease
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.
  • 787
  • 24 Dec 2020
Topic Review
ATRX Gene
ATRX, chromatin remodeler
  • 787
  • 24 Dec 2020
Topic Review
BLM Gene
BLM RecQ like helicase
  • 787
  • 24 Dec 2020
Topic Review
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
  • 787
  • 24 Dec 2020
Topic Review
SMN2 Gene
survival of motor neuron 2, centromeric
  • 787
  • 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. 
  • 787
  • 09 Nov 2022
Topic Review
Vitelliform Macular Dystrophy
Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.
  • 786
  • 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.
  • 786
  • 23 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.
  • 786
  • 24 Dec 2020
Topic Review
MMADHC Gene
metabolism of cobalamin associated D
  • 785
  • 22 Dec 2020
Topic Review
CLRN1 Gene
clarin 1
  • 785
  • 24 Dec 2020
Topic Review
TFR2 Gene
Transferrin receptor 2: The TFR2 gene provides instructions for making a protein called transferrin receptor 2. 
  • 785
  • 25 Dec 2020
Topic Review
Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  
  • 785
  • 25 Dec 2020
Topic Review
TNFRSF11B Gene
TNF receptor superfamily member 11b: The TNFRSF11B gene provides instructions for making a protein called osteoprotegerin.
  • 785
  • 25 Dec 2020
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