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Items: 1 to 20 of 370

1.
Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome
Mazen Kurban, Muhammad Wajid, Yutaka Shimomura, Ruba Bahhady, Abdul-Ghani Kibbi, Angela M. Christiano
Dermatology. 2009 Nov; 219(4): 289–294. Published online 2009 Oct 6. doi: 10.1159/000245341
PMCID:
PMC2813799
AbstractArticlePDF–459K
2.
Suppressing Ap1 Factor Signaling in Suprabasal Epidermis Produces A Keratoderma Phenotype
Ellen A. Rorke, Gautam Adhikary, Christina A. Young, Dennis R. Roop, Richard L. Eckert
J Invest Dermatol. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: J Invest Dermatol. 2015 Jan; 135(1): 170–180. Published online 2014 Aug 22. doi: 10.1038/jid.2014.310
Correction in:
J Invest Dermatol. 2021 Jul; 141(7): 1862.
PMCID:
PMC4268309
AbstractArticlePDF–2.3M
3.
Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy
Zhong-Yu Yuan, Li-Ting Cheng, Ze-Feng Wang, Yong-Quan Wu
Chin Med J (Engl) 2021 Aug 5; 134(15): 1771–1779. Published online 2021 Aug 2. doi: 10.1097/CM9.0000000000001581
PMCID:
PMC8367056
AbstractArticlePDF–622K
4.
A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review
Hui Yu, Xun He, Xiangqin Liu, Houbin Zhang, Zhu Shen, Yi Shi, Xiaoqi Liu
Mol Genet Genomic Med. 2021 Jul; 9(7): e1686. Published online 2021 May 5. doi: 10.1002/mgg3.1686
PMCID:
PMC8372118
AbstractArticlePDF–1.5M
5.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Hamidreza Mahmoudi, Razieh Karamzadeh, Ariana Kariminejad, Jianhe Huang, Leping Li, Thomas F. Jannace, Paolo Fortina, Sirous Zeinali, Thomas W. White, Jouni Uitto
Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.
Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 217–229. Published online 2018 Dec 1. doi: 10.1002/humu.23686
PMCID:
PMC6481180
AbstractArticlePDF–2.1M
6.
WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome
Sadia Nawaz, Joakim Klar, Muhammad Wajid, Muhammad Aslam, Muhammad Tariq, Jens Schuster, Shahid Mahmood Baig, Niklas Dahl
Eur J Hum Genet. 2009 Dec; 17(12): 1600–1605. Published online 2009 May 27. doi: 10.1038/ejhg.2009.81
PMCID:
PMC2987016
AbstractArticlePDF–306K
7.
Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
Jae Yeol Lee, Sung-Il In, Hyon J Kim, Seon-Yong Jeong, Yun Hoon Choung, You Chan Kim
J Korean Med Sci. 2010 Oct; 25(10): 1539–1542. Published online 2010 Sep 17. doi: 10.3346/jkms.2010.25.10.1539
PMCID:
PMC2946671
AbstractArticlePDF–1.2M
8.
A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre Syndrome
T Cheng, M Kurban, M Wajid, M Kiuru, Y Shimomura, AM Christiano
J Eur Acad Dermatol Venereol. Author manuscript; available in PMC 2011 Aug 1.
Published in final edited form as: J Eur Acad Dermatol Venereol. 2010 Aug; 24(8): 967–969. Published online 2010 Mar 4. doi: 10.1111/j.1468-3083.2010.03575.x
PMCID:
PMC2921986
AbstractArticlePDF–78K
9.
Activation of Vascular Endothelial Growth Factor Receptor 2 in a Cellular Model of Loricrin Keratoderma
Kozo Yoneda, Toshio Demitsu, Kozo Nakai, Tetsuya Moriue, Wataru Ogawa, Junsuke Igarashi, Hiroaki Kosaka, Yasuo Kubota
J Biol Chem. 2010 May 21; 285(21): 16184–16194. Published online 2010 Mar 17. doi: 10.1074/jbc.M109.056424
PMCID:
PMC2871486
AbstractArticlePDF–2.4M
10.
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
Sabrina W. Yum, Junxian Zhang, Steven S. Scherer
Neurobiol Dis. Author manuscript; available in PMC 2011 May 1.
Published in final edited form as: Neurobiol Dis. 2010 May; 38(2): 226–236. Published online 2010 Jan 21. doi: 10.1016/j.nbd.2010.01.010
PMCID:
PMC2868926
AbstractArticlePDF–2.9M
11.
A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis
Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl
Am J Hum Genet. 2010 Apr 9; 86(4): 596–603. doi: 10.1016/j.ajhg.2010.02.018
Correction in:
Am J Hum Genet. 2010 Apr 9; 86(4): 655.
PMCID:
PMC2850438
AbstractArticlePDF–630K
12.
Novel desmoplakin mutations in familial Carvajal syndrome
DANAT YERMAKOVICH, LARYSA SIVITSKAYA, TATIYANA VAIKHANSKAYA, NINA DANILENKO, IRYNA MOTUK
Acta Myol. 2018 Dec; 37(4): 263–266. Published online 2018 Dec 1.
PMCID:
PMC6416697
AbstractArticlePDF–270K
13.
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Sancy A Leachman, Robyn P Hickerson, Mary E Schwartz, Emily E Bullough, Stephen L Hutcherson, Kenneth M Boucher, C David Hansen, Mark J Eliason, G Susan Srivatsa, Douglas J Kornbrust, Frances JD Smith, WH Irwin McLean, Leonard M Milstone, Roger L Kaspar
Mol Ther. 2010 Feb; 18(2): 442–446. Published online 2009 Nov 24. doi: 10.1038/mt.2009.273
PMCID:
PMC2839285
AbstractArticlePDF–264K
14.
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer
BMC Med Genomics. 2022; 15: 4. Published online 2022 Jan 5. doi: 10.1186/s12920-021-01154-z
PMCID:
PMC8729015
AbstractArticlePDF–2.2M
15.
Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts
Marie Christine Martens, Janin Edelkamp, Christina Seebode, Mirijam Schäfer, Susanne Stählke, Saskia Krohn, Ole Jung, Hugo Murua Escobar, Steffen Emmert, Lars Boeckmann
Int J Mol Sci. 2021 May; 22(10): 5293. Published online 2021 May 18. doi: 10.3390/ijms22105293
PMCID:
PMC8157373
AbstractArticlePDF–2.7M
16.
Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma
Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda, Yasuyuki Fujita, Wataru Nishie, Masashi Akiyama, Akemi Ishida-Yamamoto, Hiroshi Shimizu
Life Sci Alliance. 2019 Feb; 2(1): e201800284. Published online 2019 Feb 4. doi: 10.26508/lsa.201800284
PMCID:
PMC6362306
AbstractArticlePDF–3.9M
17.
Acral Peeling in Nagashima Type Palmo-plantar Keratosis Patients Reveals the Role of Serine Protease Inhibitor B 7 in Keratinocyte Adhesion
Eran Cohen-Barak, Wassim Azzam, Jennifer L. Koetsier, Nada Danial-Farran, Moran Barcan, Maysa Hriesh, Morad Khayat, Natalia Edison, Judith Krausz, Chen Gafni-Amsalem, Akiharu Kubo, Lisa M. Godsel, Michael Ziv, Stavit Allon-Shalev
Exp Dermatol. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Exp Dermatol. 2022 Feb; 31(2): 214–222. Published online 2021 Aug 17. doi: 10.1111/exd.14444
PMCID:
PMC8831670
AbstractArticlePDF–1.3M
18.
A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review
Cátia Santos-Ferreira, Rui Baptista, Tiago Teixeira, Lino Gonçalves
BMC Cardiovasc Disord. 2022; 22: 41. Published online 2022 Feb 12. doi: 10.1186/s12872-022-02472-5
PMCID:
PMC8840678
AbstractArticlePDF–1.0M
19.
A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development
Valeria Mastrodonato, Galina Beznoussenko, Alexandre Mironov, Laura Ferrari, Gianluca Deflorian, Thomas Vaccari
Sci Rep. 2019; 9: 1211. Published online 2019 Feb 4. doi: 10.1038/s41598-018-37780-4
PMCID:
PMC6361908
AbstractArticlePDF–4.5M
20.
Connexin43 mutations linked to skin disease have augmented hemichannel activity
Miduturu Srinivas, Thomas F. Jannace, Anthony G. Cocozzelli, Leping Li, Nefeli Slavi, Caterina Sellitto, Thomas W. White
Sci Rep. 2019; 9: 19. Published online 2019 Jan 10. doi: 10.1038/s41598-018-37221-2
PMCID:
PMC6328547
AbstractArticlePDF–2.0M

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