PMC Articles for MedGen (Select 436922) - PMC - NCBI

Result Filters

Links from MedGen

Items: 10

Select item 32288301.

Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna

Gernot Walko, Nevena Vukasinovic, Karin Gross, Irmgard Fischer, Sabrina Sibitz, Peter Fuchs, Siegfried Reipert, Ute Jungwirth, Walter Berger, Ulrich Salzer, Oliviero Carugo, Maria J. Castañón, Gerhard Wiche

PLoS Genet. 2011 Dec; 7(12): e1002396. Published online 2011 Dec 1. doi: 10.1371/journal.pgen.1002396

PMCID:: PMC3228830

Article PubReader PDF–5.5M Cite

Select item 30230272.

Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex

Ken Natsuga, Wataru Nishie, Satoru Shinkuma, Ken Arita, Hideki Nakamura, Makiko Ohyama, Hitoshi Osaka, Takeshi Kambara, Yoshiaki Hirako, Hiroshi Shimizu

Hum Mutat. 2010 Oct; 31(10): E1687–E1698. doi: 10.1002/humu.21330

PMCID:: PMC3023027

Article PubReader PDF–477K Cite

Select item 84666463.

Muscle-Related Plectinopathies

Michaela M. Zrelski, Monika Kustermann, Lilli Winter

Cells. 2021 Sep; 10(9): 2480. Published online 2021 Sep 19. doi: 10.3390/cells10092480

PMCID:: PMC8466646

Article PubReader PDF–4.5M Cite

Select item 47321224.

An Ensemble Successive Project Algorithm for Liquor Detection Using Near Infrared Sensor

Fangfang Qu, Dong Ren, Jihua Wang, Zhong Zhang, Na Lu, Lei Meng

Sensors (Basel) 2016 Jan; 16(1): 89. Published online 2016 Jan 11. doi: 10.3390/s16010089

PMCID:: PMC4732122

Article PubReader PDF–1.6M Cite

Select item 27909145.

Epidermolysis Bullosa with Pyloric Atresia

Hye Jin Chung, Jouni Uitto

Dermatol Clin. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Dermatol Clin. 2010 Jan; 28(1): 43–54. doi: 10.1016/j.det.2009.10.005

PMCID:: PMC2790914

Article PubReader PDF–1.8M Cite

Select item 18582436.

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.

L. Pulkkinen, L. Bruckner-Tuderman, C. August, J. Uitto

Am J Pathol. 1998 Apr; 152(4): 935–941.

PMCID:: PMC1858243

Summary Page Browse PDF–2.0M Cite

Select item 18581387.

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

L. Pulkkinen, D. U. Kim, J. Uitto

Am J Pathol. 1998 Jan; 152(1): 157–166.

PMCID:: PMC1858138

Summary Page Browse PDF–2.7M Cite

Select item 13775478.

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

L Pulkkinen, F Rouan, L Bruckner-Tuderman, R Wallerstein, M Garzon, T Brown, L Smith, W Carter, J Uitto

Am J Hum Genet. 1998 Nov; 63(5): 1376–1387. doi: 10.1086/302116

PMCID:: PMC1377547

Summary PDF–1.8M Cite

Select item 11707299.

Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain.

C Murgia, P Blaikie, N Kim, M Dans, H T Petrie, F G Giancotti

EMBO J. 1998 Jul 15; 17(14): 3940–3951. doi: 10.1093/emboj/17.14.3940

PMCID:: PMC1170729

Summary PDF–796K Cite

Select item 50813110.

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

L Ruzzi, L Gagnoux-Palacios, M Pinola, S Belli, G Meneguzzi, M D'Alessio, G Zambruno

J Clin Invest. 1997 Jun 15; 99(12): 2826–2831. doi: 10.1172/JCI119474

PMCID:: PMC508131

Summary PDF–399K Cite

Supplemental Content

Filter your results:

All (10)
NIH grants (5)
Embargoed (0)

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 436922) (10)
PMC

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Literature > PubMed Central (PMC)