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Topic Review
Vohwinkel Syndrome
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.  
  • 816
  • 23 Dec 2020
Topic Review
WRN Gene
Werner syndrome RecQ like helicase: the WRN gene provides instructions for producing the Werner protein, which plays a critical role in repairing damaged DNA. The Werner protein functions as a type of enzyme called a helicase.
  • 816
  • 24 Dec 2020
Topic Review
LncRNAs in Alzheimer’s Disease
One of the most compelling needs in the study of Alzheimer’s disease (AD) is the characterization of cognitive decline peripheral biomarkers. In this context, the theme of altered RNA processing has emerged as a contributing factor to AD. In particular, the significant role of long non-coding RNAs (lncRNAs) associated to AD is opening new perspectives in AD research. This class of RNAs may offer numerous starting points for new investigations about pathogenic mechanisms and, in particular, about peripheral biomarkers. Indeed, altered lncRNA signatures are emerging as potential diagnostic biomarkers
  • 816
  • 10 Aug 2021
Topic Review
RAB18 Deficiency
RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum because of their similar features and shared genetic cause.
  • 816
  • 24 Dec 2020
Topic Review
Dowling-Degos Disease
Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.
  • 815
  • 24 Dec 2020
Topic Review
PHF8 Gene
PHD finger protein 8
  • 815
  • 25 Dec 2020
Topic Review
Acromicric Dysplasia
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.
  • 814
  • 23 Dec 2020
Topic Review
Aniridia
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).
  • 814
  • 24 Dec 2020
Topic Review
SMARCA2 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  • 814
  • 24 Dec 2020
Topic Review
TGFBR2 Gene
Transforming growth factor beta receptor 2: The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. 
  • 814
  • 25 Dec 2020
Topic Review
PITX1 Gene
paired like homeodomain 1
  • 814
  • 25 Dec 2020
Topic Review
Proximal 18q Deletion Syndrome
Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means that the missing piece occurs near the center of the chromosome. Individuals with proximal 18q deletion syndrome have a wide variety of signs and symptoms. Because only a small number of people are known to have this type of deletion, it can be difficult to determine which features should be considered characteristic of the disorder.
  • 813
  • 24 Dec 2020
Topic Review
DMD Gene
Dystrophin: DMD, the largest known human gene, provides instructions for making a protein called dystrophin. 
  • 813
  • 24 Dec 2020
Topic Review
Crigler-Najjar Syndrome
Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).
  • 813
  • 24 Dec 2020
Topic Review
SMAD4 Gene
SMAD family member 4
  • 813
  • 24 Dec 2020
Topic Review
SPR Gene
sepiapterin reductase
  • 813
  • 24 Dec 2020
Topic Review
Ewing Sarcoma
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.
  • 813
  • 25 Dec 2020
Topic Review
Own stem Rust Resistance Genes in Bread Wheat
Stem rust is one wheat’s most dangerous fungal diseases. Yield losses caused by stem rust have been significant enough to cause famine in the past. Resistance genes are considered to be the most rational environment-friendly and widely used way to control the spread of stem rust and prevent yield losses. More than 60 genes conferring resistance against stem rust have been discovered (so-called Sr genes).
  • 813
  • 01 Nov 2022
Topic Review
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves.
  • 812
  • 24 Dec 2020
Topic Review
TREX1 Gene
Three prime repair exonuclease 1: The TREX1 gene provides instructions for making the 3-prime repair exonuclease 1 enzyme.
  • 812
  • 25 Dec 2020
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