PMC Links for Gene (Select 126410) - PMC

Select item 70282761.

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, Laura Fachal, Ana Martín-Santiago, Asunción Vicente, David Jiménez-Gallo, Encarna Guillén-Navarro, Loreto Martorell Sampol, María Antonia González-Enseñat, Ana Vega

PLoS One. 2020; 15(2): e0229025. Published online 2020 Feb 18. doi: 10.1371/journal.pone.0229025

PMCID:: PMC7028276

Article PDF–1.3M

Select item 28443312.

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 12881713.

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

Judith Fischer, Alexandra Faure, Bakar Bouadjar, Claudine Blanchet-Bardon, Aysen Karaduman, Isabelle Thomas, Serap Emre, Susan Cure, Meral Özgüc, Jean Weissenbach, Jean-François Prud'homme

Am J Hum Genet. 2000 Mar; 66(3): 904–913. Published online 2000 Mar 2. doi: 10.1086/302814

PMCID:: PMC1288171

Article PDF–466K

Select item 12881474.

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2

Elina Virolainen, Maija Wessman, Iiris Hovatta, Kirsti-Maria Niemi, Jaakko Ignatius, Juha Kere, Leena Peltonen, Aarno Palotie

Am J Hum Genet. 2000 Mar; 66(3): 1132–1137. Published online 2000 Feb 18. doi: 10.1086/302813

PMCID:: PMC1288147

Article PDF–444K

Select item 44851055.

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation

Yusuke Ohno, Shota Nakamichi, Aya Ohkuni, Nozomi Kamiyama, Ayano Naoe, Hisashi Tsujimura, Urara Yokose, Kazumitsu Sugiura, Junko Ishikawa, Masashi Akiyama, Akio Kihara

Proc Natl Acad Sci U S A. 2015 Jun 23; 112(25): 7707–7712. Published online 2015 Jun 8. doi: 10.1073/pnas.1503491112

PMCID:: PMC4485105

Article PDF–1.1M

Select item 31098596.

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

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Select item 13561297.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Article PDF–438K

Select item 71699838.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Article PDF–5.4M

Select item 81650309.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Article PDF–2.2M

Select item 13924110.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

Select item 317805911.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Article PDF–1.0M

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