eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | junctional epidermolysis bullosa |
| Symptom | C0266159|pyloric atresia |
| Sentences | 8 |
| PubMedID- 20955205 | junctional epidermolysis bullosa associated with pyloric atresia (jeb-pa) is one of the most severe inherited skin diseases, characterized by generalized blister formation and occlusion of the pylorus at birth. |
| PubMedID- 25830530 | Mutations in the human genes encoding integrin α6 and integrin β4 (integrin α6β4) cause junctional epidermolysis bullosa with pyloric atresia, which includes enamel defects . |
| PubMedID- 25487405 | The same is true for humans that suffer from junctional epidermolysis bullosa with pyloric atresia (jeb-pa) caused by mutations in either the integrin α6 or β4 subunit. |
| PubMedID- 24968903 | Congenital pyloric atresia, type b; with junctional epidermolysis bullosa. |
| PubMedID- 21969027 | Background: junctional epidermolysis bullosa with pyloric atresia (jeb-pa) is a rare autosomal recessive disease with blister formation within the lamina lucida due to mutations in the integrin beta4 (itgb4) and alpha6 (itga6) genes. |
| PubMedID- 25849406 | Loss of α6β4 results in the blistering disease junctional epidermolysis bullosa associated with pyloric atresia (jeb-pa), which is characterized by fragility of the skin (chung & uitto, 2010 ▶). |
| PubMedID- 20596088 | Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. |
| PubMedID- 21544229 | Increased expression of α6β4 and changes in its distribution were then correlated with increased aggressiveness of tumors and poor prognosis 140. β4 subunit has an unusual size of approximately 200 kda, which is due to an unusually long cytoplasmic domain of over 1,000 amino acids 141. this domain contains two pairs of type iii fibronectin (fniii) domains, separated by a connecting segment (cs) 142. β4 knockout mice developed severe blistering of the skin 143. moreover, a mutation in the β4 gene is responsible for the pyloric atresia associated with junctional epidermolysis bullosa (eb) syndrome in humans. |
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