Literature DB >> 19945615

Epidermolysis bullosa with pyloric atresia.

Hye Jin Chung1, Jouni Uitto.   

Abstract

Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare form of EB. This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the alpha(6)beta(4) integrin and plectin genes that cause EB-PA, and the clinical implications of molecular genetics on EB-PA.

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Mesh：

Year:  2010        PMID： 19945615      PMCID： PMC2790914          DOI： 10.1016/j.det.2009.10.005

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN： 0733-8635            Impact factor:   3.478


  39 in total

Review 1.  Progress in epidermolysis bullosa: genetic classification and clinical implications.

Authors:  Jouni Uitto; Gabriele Richard
Journal:  Am J Med Genet C Semin Med Genet       Date:  2004-11-15       Impact factor: 3.908

2.  Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

Authors:  L Pulkkinen; D U Kim; J Uitto
Journal:  Am J Pathol       Date:  1998-01       Impact factor: 4.307

3.  Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.

Authors:  L Pulkkinen; K Kurtz; Y Xu; L Bruckner-Tuderman; J Uitto
Journal:  Lab Invest       Date:  1997-06       Impact factor: 5.662

4.  Congenital pyloric atresia.

Authors:  N W Thompson; W Parker; S Schwartz; J F Holt
Journal:  Arch Surg       Date:  1968-11

5.  Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

Authors:  L Pulkkinen; V E Kimonis; Y Xu; E N Spanou; W H McLean; J Uitto
Journal:  Hum Mol Genet       Date:  1997-05       Impact factor: 6.150

6.  Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

Authors:  L Pulkkinen; L Bruckner-Tuderman; C August; J Uitto
Journal:  Am J Pathol       Date:  1998-04       Impact factor: 4.307

7.  Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia.

Authors:  A Micheloni; N De Luca; G Tadini; G Zambruno; M D'Alessio
Journal:  Br J Dermatol       Date:  2004-10       Impact factor: 9.302

8.  Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

Authors:  F Vidal; D Aberdam; C Miquel; A M Christiano; L Pulkkinen; J Uitto; J P Ortonne; G Meneguzzi
Journal:  Nat Genet       Date:  1995-06       Impact factor: 38.330

9.  Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa.

Authors:  M F Jonkman; M C de Jong; K Heeres; A Sonnenberg
Journal:  J Invest Dermatol       Date:  1992-10       Impact factor: 8.551

10.  Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa.

Authors:  R J Phillips; J D Aplin; B D Lake
Journal:  Histopathology       Date:  1994-06       Impact factor: 5.087
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  18 in total

1.  First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

Authors:  Ayvaz Ozge; Hatırnaz Safak; Hatırnaz Ebru; Unsal Evrim; Sinanoglu Ekin Bilge; Ozer Leyla; Kadı Ali Kemal; Baltacı Volkan
Journal:  J Assist Reprod Genet       Date:  2012-02-22       Impact factor: 3.412

2.  EGF-induced MAPK signaling inhibits hemidesmosome formation through phosphorylation of the integrin {beta}4.

Authors:  Evelyne Frijns; Norman Sachs; Maaike Kreft; Kevin Wilhelmsen; Arnoud Sonnenberg
Journal:  J Biol Chem       Date:  2010-09-24       Impact factor: 5.157

3.  Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation.

Authors:  Arnold C Merrow; Jason S Frischer; Anne W Lucky
Journal:  Pediatr Radiol       Date:  2013-07-07

4.  Assembly of the β4-Integrin Interactome Based on Proximal Biotinylation in the Presence and Absence of Heterodimerization.

Authors:  Satu-Marja Myllymäki; Ulla-Reetta Kämäräinen; Xiaonan Liu; Sara Pereira Cruz; Sini Miettinen; Mikko Vuorela; Markku Varjosalo; Aki Manninen
Journal:  Mol Cell Proteomics       Date:  2018-11-07       Impact factor: 5.911

Review 5.  A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.

Authors:  Scott S Short; Christa N Grant; Demetri Merianos; Dana Haydel; Henri R Ford
Journal:  Pediatr Surg Int       Date:  2014-04-30       Impact factor: 1.827

6.  Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review.

Authors:  Gungi Raghavendra Prasad; J V Subba Rao; Firdous Fatima; Fariha Anjum
Journal:  J Indian Assoc Pediatr Surg       Date:  2021-11-12

Review 7.  A genetic model for the secretory stage of dental enamel formation.

Authors:  James P Simmer; Jan C-C Hu; Yuanyuan Hu; Shelly Zhang; Tian Liang; Shih-Kai Wang; Jung-Wook Kim; Yasuo Yamakoshi; Yong-Hee Chun; John D Bartlett; Charles E Smith
Journal:  J Struct Biol       Date:  2021-10-27       Impact factor: 2.867

8.  Combination of X-ray crystallography, SAXS and DEER to obtain the structure of the FnIII-3,4 domains of integrin α6β4.

Authors:  Noelia Alonso-García; Inés García-Rubio; José A Manso; Rubén M Buey; Hector Urien; Arnoud Sonnenberg; Gunnar Jeschke; José M de Pereda
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  2015-03-27

Review 9.  Molecular architecture and function of the hemidesmosome.

Authors:  Gernot Walko; Maria J Castañón; Gerhard Wiche
Journal:  Cell Tissue Res       Date:  2014-12-09       Impact factor: 5.249

10.  Epidermolysis Bullosa with Hypertrophic Pyloric Stenosis in a Newborn.

Authors:  Mahdi Ben Dhaou; Saloua Ammar; Hamdi Louati; Hayet Zitouni; Mohamed Jallouli; Riadh Mhiri
Journal:  J Neonatal Surg       Date:  2015-10-01
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