PedAM
Pediatric Disease Annotations & Medicines
| Disease | epidermolysis bullosa |
| Symptom | C0266159|pyloric atresia |
| Sentences | 20 |
| PubMedID- 26017636 | 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- 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. |
| PubMedID- 20695865 | Immunoflourescence mapping is an ideal candidate for developing a broad prognostic indicator for epidermolysis bullosa with pyloric atresia without the need for genetic mutation analysis. |
| PubMedID- 23109907 | Mutations in human itga6 lead to epidermolysis bullosa with pyloric atresia (severe skin blistering with life-threatening obstruction of the digestive tract). |
| PubMedID- 21413955 | Dna-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. |
| PubMedID- 20301336 | epidermolysis bullosa with pyloric atresia |
| 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- 24781346 | pyloric atresia with epidermolysis bullosa (eb) dystrophica is a rare entity that may not be immediately recognized. |
| 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- 22864723 | pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature. |
| 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- 19945615 | epidermolysis bullosa (eb) with pyloric atresia (pa) is a rare form of eb. |
| PubMedID- 23613220 | The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia. |
| 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- 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- 20596088 | Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. |
| PubMedID- 22354727 | First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insactc mutation. |
| PubMedID- 23832020 | pyloric atresia with epidermolysis bullosa: fetal mri diagnosis with postnatal correlation. |
| PubMedID- 24968903 | Congenital pyloric atresia, type b; with junctional epidermolysis bullosa. |
| PubMedID- 22028570 | Case of epidermolysis bullosa with pyloric atresia. |
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