BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 21969027)

  • 1. Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.
    Stoevesandt J; Borozdin W; Girschick G; Hamm H; Höcht B; Kohlhase J; Volz A; Wiewrodt B; Wirbelauer J
    Klin Padiatr; 2012 Jan; 224(1):8-11. PubMed ID: 21969027
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
    Dang N; Klingberg S; Rubin AI; Edwards M; Borelli S; Relic J; Marr P; Tran K; Turner A; Smith N; Murrell DF
    Acta Derm Venereol; 2008; 88(5):438-48. PubMed ID: 18779879
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
    Masunaga T; Ishiko A; Takizawa Y; Kim SC; Lee JS; Nishikawa T; Shimizu H
    Exp Dermatol; 2004 Jan; 13(1):61-4. PubMed ID: 15009117
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia.
    Micheloni A; De Luca N; Tadini G; Zambruno G; D'Alessio M
    Br J Dermatol; 2004 Oct; 151(4):796-802. PubMed ID: 15491419
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome.
    Masunaga T; Niizeki H; Yasuda F; Yoshida K; Amagai M; Ishiko A
    J Dermatol Sci; 2015 Apr; 78(1):61-6. PubMed ID: 25728941
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.
    Mencía Á; García M; García E; Llames S; Charlesworth A; de Lucas R; Vicente A; Trujillo-Tiebas MJ; Coto P; Costa M; Vera Á; López-Pestaña A; Murillas R; Meneguzzi G; Jorcano JL; Conti CJ; Escámez Toledano MJ; del Río Nechaevsky M
    Exp Dermatol; 2016 Apr; 25(4):269-74. PubMed ID: 26739954
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.
    Salvestrini C; McGrath JA; Ozoemena L; Husain K; Buhamrah E; Sabery N; Leichtner A; Rufo PA; Perez-Atayde A; Orteu CH; Torrente F; Heuschkel RB; Thomson MA; Murch SH
    J Pediatr Gastroenterol Nutr; 2008 Nov; 47(5):585-91. PubMed ID: 18955862
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
    Mutlu M; Kalay E; Dilber B; Aslan Y; Dilber E; Almaani N; McGrath JA
    Turk J Pediatr; 2015; 57(4):385-387. PubMed ID: 27186702
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
    Nakano A; Pulkkinen L; Murrell D; Rico J; Lucky AW; Garzon M; Stevens CA; Robertson S; Pfendner E; Uitto J
    Pediatr Res; 2001 May; 49(5):618-26. PubMed ID: 11328943
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.
    Kayki G; Bozkaya D; Ozaltin F; Orhan D; Kaymaz F; Korkmaz E; Yigit S
    Fetal Pediatr Pathol; 2017 Aug; 36(4):332-339. PubMed ID: 28557647
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature.
    Zhou X; Wang M; Wang S; Jiang X; Li W
    J Dermatol; 2021 Nov; 48(11):1780-1785. PubMed ID: 34462954
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.
    Masunaga T; Ogawa J; Akiyama M; Nishikawa T; Shimizu H; Ishiko A
    J Dermatol; 2017 Feb; 44(2):160-166. PubMed ID: 27607025
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.
    Ruzzi L; Gagnoux-Palacios L; Pinola M; Belli S; Meneguzzi G; D'Alessio M; Zambruno G
    J Clin Invest; 1997 Jun; 99(12):2826-31. PubMed ID: 9185503
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.
    Takizawa Y; Shimizu H; Nishikawa T; Hatta N; Pulkkinen L; Uitto J
    J Invest Dermatol; 1997 Jun; 108(6):943-6. PubMed ID: 9182827
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
    Pulkkinen L; Rouan F; Bruckner-Tuderman L; Wallerstein R; Garzon M; Brown T; Smith L; Carter W; Uitto J
    Am J Hum Genet; 1998 Nov; 63(5):1376-87. PubMed ID: 9792864
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
    Wee LWY; Tan EC; Bishnoi P; Ng YZ; Lunny DP; Lim HW; Lee SP; Ong C; Yap TL; Mok YH; Low MY; Chu-Tian Chow C; Derrick L; Common JEA; Birgitte Lane E; Koh MJA
    Pediatr Dermatol; 2021 Jul; 38(4):908-912. PubMed ID: 34152038
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene.
    Hattori M; Shimizu A; Nakano H; Ishikawa O
    J Dermatol; 2018 Jul; 45(7):e203-e204. PubMed ID: 29380424
    [No Abstract]   [Full Text] [Related]  

  • 18. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
    Vidal F; Aberdam D; Miquel C; Christiano AM; Pulkkinen L; Uitto J; Ortonne JP; Meneguzzi G
    Nat Genet; 1995 Jun; 10(2):229-34. PubMed ID: 7545057
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
    Schumann H; Kiritsi D; Pigors M; Hausser I; Kohlhase J; Peters J; Ott H; Hyla-Klekot L; Gacka E; Sieron AL; Valari M; Bruckner-Tuderman L; Has C
    Br J Dermatol; 2013 Jul; 169(1):115-24. PubMed ID: 23496044
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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.
    Pulkkinen L; Kurtz K; Xu Y; Bruckner-Tuderman L; Uitto J
    Lab Invest; 1997 Jun; 76(6):823-33. PubMed ID: 9194858
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.