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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.
  • 891
  • 20 Jan 2021
Topic Review
MOCS1 Gene
molybdenum cofactor synthesis 1
  • 890
  • 22 Dec 2020
Topic Review
IGF2 Gene
Insulin like growth factor 2
  • 890
  • 23 Dec 2020
Topic Review
CFI Gene
complement factor I
  • 890
  • 24 Dec 2020
Topic Review
ABCC6 Gene
ATP binding cassette subfamily C member 6
  • 890
  • 24 Dec 2020
Topic Review
Arthrogryposis
Arthrogryposis (arth = joint; grp = curved; osis = pathological state) describes a broad range of phenotypes consisting of multiple congenital joint contractures presenting at birth. About 1 in 3000 live births presents with some form of arthrogryposis, many of which are nonprogressive and improve with physiotherapy. The core root of arthrogryposis is fetal akinesia, or lack of fetal movement, that results in contractures forming in the joints. 
  • 890
  • 21 Jun 2021
Topic Review
KRT5 Gene
Keratin 5
  • 889
  • 23 Dec 2020
Topic Review
F8 Gene
Coagulation factor VIII: The F8 gene provides instructions for making a protein called coagulation factor VIII. 
  • 889
  • 24 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.
  • 889
  • 04 Jan 2021
Topic Review
Orofacial Cancers
Orofacial cancers result in facial deformities and impairment of vital functions and are often lethal. These aggressive solid tumors exhibit great heterogeneity between them and show distinct and exclusive molecular alterations that deregulate the function of important signaling pathways. The Notch signaling pathway is involved in the initiation and development of orofacial cancers. Increasing evidence suggests that Notch molecules may have a dual function in cancer, acting either as oncogenes or tumor suppressor genes. Crosstalk between Notch and other signaling pathways provides a critical multidirectional control in these cancers. Protein phosphorylation is activated in cancers and therefore novel drugs inhibiting phosphorylation events (kinase inhibitors) are increasingly used in the treatment of cancers. Another pharmacological strategy is the selective targeting of Notch signaling in order to eliminate the cancer stem cells using monoclonal antibodies against specific regions of the Notch molecules. Organoids, “organ-on-a-chip” devices and single-cell genomic analyses could be used for further investigations and preclinical studies in orofacial cancers. Organoids can be used to study complex interactions between the various cells lines in orofacial cancers, as well as for the preclinical screening of novel drugs. Microfluidic culture systems, also called “organs-on-chips”, can be used to model cancer cell behavior within orofacial tissues and their environment. These chips also enable to vary drug delivery and composition in a controlled manner in order to study cancer tissue responses to various pharmaceutical anticancer products. Single-cell RNA-seq analyses allow exploring the genetic and functional heterogeneity of orofacial cancers at a cellular resolution, thus revealing new insights into tumor composition and drug resistance. These important technological developments and the innovative therapeutic strategies demonstrate significant promise and generate enthusiasm and optimism within the oncology community.
  • 888
  • 28 Oct 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.
  • 888
  • 23 Dec 2020
Topic Review
PKLR Gene
pyruvate kinase L/R
  • 888
  • 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.
  • 888
  • 04 Jan 2021
Topic Review
Lennox-Gastaut Syndrome
Lennox-Gastaut syndrome is a severe condition characterized by recurrent seizures (epilepsy) that begin early in life.
  • 888
  • 23 Dec 2020
Topic Review
TAP1 Gene
Transporter 1, ATP binding cassette subfamily B member: The TAP1 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 887
  • 24 Dec 2020
Topic Review
TGM3 Gene
Transglutaminase 3: The TGM3 gene provides instructions for making an enzyme called transglutaminase 3.
  • 887
  • 25 Dec 2020
Topic Review
MT-TE Gene
mitochondrially encoded tRNA glutamic acid
  • 886
  • 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.
  • 886
  • 24 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.
  • 886
  • 25 Dec 2020
Topic Review
Autosomal Dominant Optic Atrophy/Cataract
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 886
  • 04 Jan 2021
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