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Select item 67473591.

Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications

Yazun Bashir Jarrar, Su-Jun Lee

Int J Mol Sci. 2019 Sep; 20(17): 4274. Published online 2019 Aug 31. doi: 10.3390/ijms20174274

PMCID:: PMC6747359

Article PDF–1.9M

Select item 97036342.

Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies

Takuya Takeichi, Yusuke Ohno, Kana Tanahashi, Yasutoshi Ito, Ken Shiraishi, Ryo Utsunomiya, Satoshi Yoshida, Kenta Ikeda, Hayato Nomura, Shin Morizane, Koji Sayama, Tomoo Ogi, Yoshinao Muro, Akio Kihara, Masashi Akiyama

J Lipid Res. 2022 Dec; 63(12): 100308. Published online 2022 Nov 1. doi: 10.1016/j.jlr.2022.100308

PMCID:: PMC9703634

Article PDF–2.3M

Select item 94256073.

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

Mi-Ran KIM, Vinzenz OJI, Frederic VALENTIN, Heiko TRAUPE, Jerzy-Roch NOFER, Ingrid HAUSSER, Hans Christian HENNIES, Katja ECKL, Stefan A. WUDY, Alberto SÁNCHEZ-GUIJO, Laura KERSCHKE, Judith FISCHER, Kira SÜßMUTH

Acta Derm Venereol. 2021; 101(9): 222. Published online 2021 Sep 15. doi: 10.2340/00015555-3887

PMCID:: PMC9425607

Article PDF–577K

Select item 87532924.

Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos

Lu Dang, Xueliang Zhou, Xiufang Zhong, Wenxia Yu, Shisheng Huang, Hanyan Liu, Yuanyuan Chen, Wuwen Zhang, Lihua Yuan, Lei Li, Xingxu Huang, Guanglei Li, Jianqiao Liu, Guoqing Tong

Mol Ther. 2022 Jan 5; 30(1): 175–183. Published online 2021 May 8. doi: 10.1016/j.ymthe.2021.05.007

PMCID:: PMC8753292

Article PDF–2.5M

Select item 86373935.

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds

Qisi Sun, Nareh M. Burgren, Shayan Cheraghlou, Amy S. Paller, Margarita Larralde, Lionel Bercovitch, Jonathan Levinsohn, Ivy Ren, Rong Hua Hu, Jing Zhou, Theodore Zaki, Ryan Fan, Charlie Tian, Corey Saraceni, Carol J. Nelson-Williams, Erin Loring, Brittany G. Craiglow, Leonard M. Milstone, Richard P. Lifton, Lynn M. Boyden, Keith A. Choate

JAMA Dermatol. 2022 Jan; 158(1): 1–11. Published online 2021 Dec 1. doi: 10.1001/jamadermatol.2021.4242

PMCID:: PMC8637393

Article

Select item 79967616.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem

Genes (Basel) 2021 Mar; 12(3): 343. Published online 2021 Feb 26. doi: 10.3390/genes12030343

PMCID:: PMC7996761

Article PDF–3.0M

Select item 71958617.

Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature

Kunal Malik, Helen He, Thy Nhat Huynh, Gary Tran, Kelly Mueller, Kristina Doytcheva, Yael Renert-Yuval, Tali Czarnowicki, Shai Magidi, Margaret Chou, Yeriel D. Estrada, Huei-Chi Wen, Xiangyu Peng, Hui Xu, Xiuzhong Zheng, James G. Krueger, Amy S. Paller, Emma Guttman-Yassky

J Allergy Clin Immunol. Author manuscript; available in PMC 2020 May 2.

Published in final edited form as: J Allergy Clin Immunol. 2019 Feb; 143(2): 604–618. Published online 2018 May 24. doi: 10.1016/j.jaci.2018.03.021

PMCID:: PMC7195861

Article PDF–2.2M

Select item 65030328.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

Martha Montalván‐Suárez, Uxia Saraiva Esperón‐Moldes, Laura Rodríguez‐Pazos, Andrés Ordóñez‐Ugalde, Fernanda Moscoso, Nora Ugalde‐Noritz, Luis Santomé, Laura Fachal, Daniel Tettamanti‐Miranda, Juan Carlos Ruiz, Manuel Ginarte, Ana Vega

Mol Genet Genomic Med. 2019 May; 7(5): e608. Published online 2019 Mar 27. doi: 10.1002/mgg3.608

PMCID:: PMC6503032

Article PDF–946K

Select item 55867769.

Transglutaminase-1 Mutations in Omani Families with Lamellar Ichthyosis

Aisha Al-Naamani, Ahmed Al-Waily, Mohammed Al-Kindi, Maha Al-Awadi, Said Ali Al-Yahyaee

Med Princ Pract. 2013 Sep; 22(5): 438–443. Published online 2013 May 15. doi: 10.1159/000349914

PMCID:: PMC5586776

Article PDF–232K

Select item 393473310.

Endogenous β-glucocerebrosidase activity in Abca12^−/−epidermis elevates ceramide levels after topical lipid application but does not restore barrier function

Jorge F. Haller, Paul Cavallaro, Nicholas J. Hernandez, Lee Dolat, Stephanie J. Soscia, Ruth Welti, Gregory A. Grabowski, Michael L. Fitzgerald, Mason W. Freeman

J Lipid Res. 2014 Mar; 55(3): 493–503. doi: 10.1194/jlr.M044941

PMCID:: PMC3934733

Article PDF–1.4M

Select item 383934011.

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

R. M. Shawky, N.S. Sayed, N.A. Elhawary

Dis Markers. 2004; 20(6): 325–332. Published online 2005 Jan 18. doi: 10.1155/2004/965968

PMCID:: PMC3839340

Summary PDF–63K

Select item 356395112.

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

Nacim Louhichi, Ikhlass Hadjsalem, Slaheddine Marrakchi, Fatma Trabelsi, Abderrahmen Masmoudi, Hamida Turki, Faiza Fakhfakh

Mol Biol Rep. 2013; 40(3): 2527–2532. Published online 2012 Nov 29. doi: 10.1007/s11033-012-2333-1

PMCID:: PMC3563951

Article PDF–443K

Select item 310985913.

Finding Homes for Orphan Cytochrome P450s: CYP4V2 and CYP4F22 in Disease States

Edward J. Kelly, Mariko Nakano, Priyanka Rohatgi, Vladimir Yarov-Yarovoy, Allan E. Rettie

Mol Interv. 2011 Apr; 11(2): 124–132. doi: 10.1124/mi.11.2.10

PMCID:: PMC3109859

Article PDF–1.0M

Select item 284433114.

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

Peter M. Elias, Mary L. Williams, Walter M. Holleran, Yan J. Jiang, Matthias Schmuth

J Lipid Res. Author manuscript; available in PMC 2010 Mar 23.

Published in final edited form as: J Lipid Res. 2008 Apr; 49(4): 697–714. Published online 2008 Feb 2. doi: 10.1194/jlr.R800002-JLR200

PMCID:: PMC2844331

Article PDF–1.3M

Select item 115914915.

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

Masashi Akiyama, Yoriko Sugiyama-Nakagiri, Kaori Sakai, James R. McMillan, Maki Goto, Ken Arita, Yukiko Tsuji-Abe, Nobuko Tabata, Kentaro Matsuoka, Rikako Sasaki, Daisuke Sawamura, Hiroshi Shimizu

J Clin Invest. 2005 Jul 1; 115(7): 1777–1784. doi: 10.1172/JCI24834

PMCID:: PMC1159149

Article PDF–1.2M

Select item 41666116.

A distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytes

Marjorie A Phillips, Bart A Jessen, Ying Lu, Qin Qin, Mary E Stevens, Robert H Rice

BMC Dermatol. 2004; 4: 2. Published online 2004 Apr 5. doi: 10.1186/1471-5945-4-2

PMCID:: PMC416661

Article PDF–664K

Select item 597122417.

Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

Elizabeth A. Mauldin, Debra Crumrine, Margret L. Casal, Sekyoo Jeong, Lukáš Opálka, Katerina Vavrova, Yoshikazu Uchida, Kyungho Park, Brittany Craiglow, Keith A. Choate, Kyong-Oh Shin, Yong-Moon Lee, Gary L. Grove, Joan S. Wakefield, Denis Khnykin, Peter M. Elias

Am J Pathol. 2018 Jun; 188(6): 1419–1429. doi: 10.1016/j.ajpath.2018.02.008

PMCID:: PMC5971224

Article

Select item 1020535518.

Collodion baby with ectropion in a Syrian newborn: a case report study

Jameel Soqia, Lama Mohamad, Nizaar Adnan Aloqla, MHD Moamen Al Mouallem, Mohammed Nader EID

Ann Med Surg (Lond) 2023 May; 85(5): 1902–1905. Published online 2023 Apr 3. doi: 10.1097/MS9.0000000000000382

PMCID:: PMC10205355

Article PDF–409K

Select item 885136619.

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity

Qisi Sun, Sarah Asch, Cheryl Bayart, Susan J. Bayliss, Latanya Benjamin, Anna Bruckner, John J. DiGiovanna, Philip Fleckman, Tracy Funk, Anne Lucky, Caroline A. Nelson, Brandon Newell, Ingrid Polcari, Joyce Teng, Mary L. Williams, Geliang Gan, Yanhong Deng, Amy S. Paller, Keith A. Choate

JAMA Dermatol. 2022 Apr; 158(4): 359–365. Published online 2022 Feb 16. doi: 10.1001/jamadermatol.2021.5917

PMCID:: PMC8851366

Article

Select item 817854220.

Early escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis

Yu-Ying Chu, Mei-Yin Lai, Han-Tsung Liao

Biomed J. 2021 Apr; 44(2): 223–226. Published online 2021 Apr 11. doi: 10.1016/j.bj.2019.12.009

PMCID:: PMC8178542

Article PDF–965K

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