These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 30079450)

  • 1. Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4.
    Yoshida K; Sadamoto M; Sasaki T; Kubo A; Ishiko A
    J Dermatol; 2019 Feb; 46(2):e61-e63. PubMed ID: 30079450
    [No Abstract]   [Full Text] [Related]  

  • 2. A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
    Ko L; Griggs CL; Mylonas KS; Masiakos PT; Kroshinsky D
    J Pediatr; 2018 Feb; 193():261-264.e1. PubMed ID: 29198538
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.
    Lee M; Chen Q; Wang H; Zhang J; Lin Z; Yang Y
    Acta Derm Venereol; 2015 Jan; 95(1):112-3. PubMed ID: 24807042
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita.
    Hsu CH; Tu WT; Chen PC; Yu-Yun Lee J; Hsu CK; Chiu TM
    J Dermatol; 2022 May; 49(5):e154-e156. PubMed ID: 35014068
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges.
    Mattioli G; Diociaiuti A; Rossi S; Zambruno G; Carlucci M; Pisaneschi E; El Hachem M
    Acta Derm Venereol; 2022 May; 102():adv00706. PubMed ID: 35312019
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.
    Natsuga K; Nishie W; Shinkuma S; Nakamura H; Arita K; Yoneda K; Kusaka T; Yanagihara T; Kosaki R; Sago H; Akiyama M; Shimizu H
    Exp Dermatol; 2011 Jan; 20(1):74-6. PubMed ID: 20955205
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.
    Li Z; Wang L; Wang S
    Pediatr Dermatol; 2023; 40(4):740-742. PubMed ID: 36813478
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations.
    Yuen WY; Sinke RJ; Jonkman MF
    Br J Dermatol; 2013 Feb; 168(2):432-4. PubMed ID: 23013259
    [No Abstract]   [Full Text] [Related]  

  • 13. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
    Mellerio JE; Pulkkinen L; McMillan JR; Lake BD; Horn HM; Tidman MJ; Harper JI; McGrath JA; Uitto J; Eady RA
    Br J Dermatol; 1998 Nov; 139(5):862-71. PubMed ID: 9892956
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
    Inoue M; Tamai K; Shimizu H; Owaribe K; Nakama T; Hashimoto T; McGrath JA
    J Invest Dermatol; 2000 May; 114(5):1061-4. PubMed ID: 10792571
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.