PMC Articles for MedGen (Select 816049) - PMC

Select item 70397471.

The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome

Eran Cohen Barak, Lisa M. Godsel, Jennifer L. Koetsier, Marihan Hegazy, Daniella Kushnir-Grinbaum, Helwe Hammad, Nada Danial- Farran, Robert Harmon, Morad Khayat, Ron Bochner, Alon Peled, Mati Rozenblat, Judit Krausz, Ofer Sarig, Jodi L. Johnson, Michael Ziv, Stavit A. Shalev, Eli Sprecher, Kathleen J. Green

J Invest Dermatol. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: J Invest Dermatol. 2020 Mar; 140(3): 556–567.e9. Published online 2019 Aug 26. doi: 10.1016/j.jid.2019.08.433

PMCID:: PMC7039747

Abstract Article PDF–2.4M

Select item 72302672.

A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis

Katherine A. Backel, Sarah Kiener, Vidhya Jagannathan, Margret L. Casal, Tosso Leeb, Elizabeth A. Mauldin

Genes (Basel) 2020 Apr; 11(4): 469. Published online 2020 Apr 24. doi: 10.3390/genes11040469

PMCID:: PMC7230267

Abstract Article PDF–1.1M

Select item 46499013.

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Maeve A. McAleer, Elizabeth Pohler, Frances J.D. Smith, Neil J. Wilson, Christian Cole, Stuart MacGowan, Jennifer L. Koetsier, Lisa M. Godsel, Robert M. Harmon, Robert Gruber, Debra Crumrine, Peter M. Elias, Michael McDermott, Karina Butler, Annemarie Broderick, Ofer Sarig, Eli Sprecher, Kathleen J. Green, W.H. Irwin McLean, Alan D. Irvine

J Allergy Clin Immunol. 2015 Nov; 136(5): 1268–1276. doi: 10.1016/j.jaci.2015.05.002

PMCID:: PMC4649901

Abstract Article PDF–4.4M

Select item 37918254.

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Liat Samuelov, Ofer Sarig, Robert M Harmon, Debora Rapaport, Akemi Ishida-Yamamoto, Ofer Isakov, Jennifer L Koetsier, Andrea Gat, Ilan Goldberg, Reuven Bergman, Ronen Spiegel, Ori Eytan, Shamir Geller, Sarit Peleg, Noam Shomron, Christabelle S M Goh, Neil J Wilson, Frances J D Smith, Elizabeth Pohler, Michael A Simpson, W H Irwin McLean, Alan D Irvine, Mia Horowitz, John A McGrath, Kathleen J Green, Eli Sprecher

Nat Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Nat Genet. 2013 Oct; 45(10): 1244–1248. Published online 2013 Aug 25. doi: 10.1038/ng.2739

PMCID:: PMC3791825

Abstract Article PDF–3.6M

Select item 99733695.

Epidermal Stratification Requires Retromer-Mediated Desmoglein-1 Recycling

Marihan Hegazy, Jennifer L. Koetsier, Amber L. Huffine, Joshua A. Broussard, Brendan M. Godsel, Eran Cohen-Barak, Eli Sprecher, Donald J. Wolfgeher, Stephen J. Kron, Lisa M. Godsel, Kathleen J. Green

Dev Cell. Author manuscript; available in PMC 2023 Dec 19.

Published in final edited form as: Dev Cell. 2022 Dec 19; 57(24): 2683–2698.e8. Published online 2022 Dec 9. doi: 10.1016/j.devcel.2022.11.010

PMCID:: PMC9973369

Abstract Article PDF–2.9M

Select item 91098906.

Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease

Stephanie E. Zimmer, Takuya Takeichi, Daniel E. Conway, Akiharu Kubo, Yasushi Suga, Masashi Akiyama, Andrew P. Kowalczyk

J Invest Dermatol. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: J Invest Dermatol. 2022 Feb; 142(2): 323–332.e8. Published online 2021 Aug 2. doi: 10.1016/j.jid.2021.07.154

PMCID:: PMC9109890

Abstract Article PDF–1.1M

Select item 77442197.

Characteristics and Surgical Results of Patients with Hypertrophic Obstructive Cardiomyopathy without Intrinsic Mitral Valve Diseases Undergoing Mitral Subvalvular Procedures during Myectomy

Qiang Ji, YuLin Wang, Ye Yang, LiMin Xia, WenJun Ding, Kai Song, ChunSheng Wang

Cardiol Res Pract. 2020; 2020: 8875405. Published online 2020 Dec 9. doi: 10.1155/2020/8875405

PMCID:: PMC7744219

Abstract Article PDF–667K

Select item 65493028.

Sinobronchial allergic mycosis syndrome in an elderly male

Eisuke Mochizuki, Shun Matsuura, Tsutomu Kubota, Yasutaka Mochizuka, Kyohei Oishi, Hyogo Naoi, Masahiro Uehara, Shinichiro Mikura, Miyuki Nagaoka, Masaru Tsukui, Naoki Koshimizu, Ichirota Nameki

Allergy Asthma Clin Immunol. 2019; 15: 35. Published online 2019 Jun 4. doi: 10.1186/s13223-019-0349-y

PMCID:: PMC6549302

Abstract Article PDF–1.2M

Select item 67246949.

The desmosome is a mesoscale lipid raft–like membrane domain

Joshua D. Lewis, Amber L. Caldara, Stephanie E. Zimmer, Sara N. Stahley, Anna Seybold, Nicole L. Strong, Achilleas S. Frangakis, Ilya Levental, James K. Wahl, III, Alexa L. Mattheyses, Takashi Sasaki, Kazuhiko Nakabayashi, Kenichiro Hata, Yoichi Matsubara, Akemi Ishida-Yamamoto, Masayuki Amagai, Akiharu Kubo, Andrew P. Kowalczyk

Mol Biol Cell. 2019 Jun 1; 30(12): 1390–1405. doi: 10.1091/mbc.E18-10-0649

PMCID:: PMC6724694

Abstract Article PDF–6.4M

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