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Topic Review
RHO Gene
rhodopsin
  • 660
  • 24 Dec 2020
Topic Review
ERCC8 Gene
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
  • 660
  • 24 Dec 2020
Topic Review
CYP27A1 Gene
Cytochrome P450 Family 27 Subfamily A Member 1
  • 659
  • 23 Dec 2020
Topic Review
RAG2 Gene
recombination activating 2
  • 659
  • 23 Dec 2020
Topic Review
WDR19 Gene
WD repeat domain 19.
  • 659
  • 24 Dec 2020
Topic Review
Epigenetic Dysregulation of KCNK9 Imprinting and TNBC
Genomic imprinting is an inherited form of parent-of-origin specific epigenetic gene regulation that is dysregulated by poor prenatal nutrition and environmental toxins. KCNK9 encodes for TASK3, a pH-regulated potassium channel membrane protein that is overexpressed in 40% of breast cancer. However, KCNK9 gene amplification accounts for increased expression in <10% of these breast cancers.
  • 659
  • 15 Dec 2021
Topic Review
Deleted in Colorectal Cancer
An Error has occurred retrieving Wikidata item for infobox Deleted in Colorectal Carcinoma, also known as DCC, is a protein which in humans is encoded by the DCC gene. DCC has long been implicated in colorectal cancer. While the official, full name of this gene is Deleted in Colorectal Carcinoma, it is almost universally called Deleted in Colorectal Cancer. The protein product of DCC is a single transmembrane receptor also known as DCC, and it has the same interchangeable name. Since it was first discovered in a colorectal cancer study in 1990, DCC has been the focus of a significant amount of research. DCC held a controversial place as a tumour suppressor gene for many years, and is well known as an axon guidance receptor that responds to netrin-1. More recently DCC has been characterized as a dependence receptor, and many hypotheses have been put forward that have revived interest in DCC's candidacy as a tumour suppressor gene, as it may be a ligand-dependent suppressor that is frequently epigenetically silenced.
  • 659
  • 08 Oct 2022
Topic Review
Hereditary Neuralgic Amyotrophy
Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.
  • 658
  • 23 Dec 2020
Topic Review
IFIH1 Gene
Interferon induced with helicase C domain 1
  • 658
  • 23 Dec 2020
Topic Review
NHLRC1 Gene
NHL repeat containing E3 ubiquitin protein ligase 1
  • 658
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.
  • 658
  • 23 Dec 2020
Topic Review
KLHL3 Gene
Kelch like family member 3
  • 658
  • 23 Dec 2020
Topic Review
CYLD Gene
CYLD Lysine 63 Deubiquitinase
  • 658
  • 23 Dec 2020
Topic Review
Enhancers in the Heart
Enhancers positively influence the activity of its target gene by operating at long-range distances in either direction of the nucleotide sequence. Early heart development is tightly controlled by these cis-regulatory elements and mutations affecting them have been shown to result in devastating forms of congenital heart defect. Therefore, identifying enhancers implicated in heart biology and understanding their mechanism is key to improve diagnosis and therapeutic options.
  • 658
  • 21 Apr 2021
Topic Review
Oxidative-Stress-Sensitive microRNAs in UV-Promoted Development of Melanoma
Exposure to ultraviolet (UV) rays from the sun is one of the most important modifiable risk factors for skin cancer. Melanoma is the most life-threatening type of skin cancer. UV-induced DNA damage and oxidative stress represent two main mechanisms that, directly and indirectly, contribute to melanomagenesis. 
  • 658
  • 22 Jul 2022
Topic Review
Common Genetic Model and Developmental Language Disorder
Monogenic causes of language disorders remain comparatively rare, and do not fully account for the developmental language disorders (DLD) prevalence rate of >7%. It is widely accepted that common risk variants confer a genetic susceptibility for DLDs. Termed ‘complex genetic model’, each variant contributes incrementally to an overall level of risk of developing a language disorder. Studies to identify these risk variants within a complex genetic model fall into two main approaches: linkage studies and genome-wide association studies (GWASs).
  • 658
  • 16 May 2022
Topic Review
MYH9
myosin heavy chain 9
  • 657
  • 23 Dec 2020
Topic Review
Hereditary Paraganglioma-Pheochromocytoma
Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia.
  • 657
  • 23 Dec 2020
Topic Review
Isolated Hyperchlorhidrosis
Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat.
  • 657
  • 23 Dec 2020
Topic Review
Cerebral Cavernous Malformation
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).
  • 657
  • 24 Dec 2020
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