PMC Links for Gene (Select 285848) - PMC

Select item 70056371.

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis

Liangshan Li, Wenmiao Liu, Yinglei Xu, Miaomiao Li, Qian Tang, Bo Yu, Renmei Cai, Shiguo Liu

Mol Genet Genomic Med. 2020 Feb; 8(2): e1076. Published online 2019 Dec 13. doi: 10.1002/mgg3.1076

PMCID:: PMC7005637

Abstract Article PDF–1.2M

Select item 55223552.

Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

L.M. Boyden, B.G. Craiglow, R.H. Hu, J. Zhou, J. Browning, L. Eichenfield, Y.L. Lim, M. Luu, L.M. Randolph, M. Ginarte, L. Fachal, L. Rodriguez-Pazos, A. Vega, D. Kramer, G. Yosipovitch, H. Vahidnezhad, L. Youssefian, J. Uitto, R.P. Lifton, A.S. Paller, L.M. Milstone, K.A. Choate

Br J Dermatol. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Br J Dermatol. 2017 Jul; 177(1): 319–322. Published online 2017 Jun 7. doi: 10.1111/bjd.15570

PMCID:: PMC5522355

Article PDF–177K

Select item 53379753.

PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide

Yusuke Ohno, Nozomi Kamiyama, Shota Nakamichi, Akio Kihara

Nat Commun. 2017; 8: 14610. Published online 2017 Mar 1. doi: 10.1038/ncomms14610

PMCID:: PMC5337975

Abstract Article PDF–1.0M

Select item 50930814.

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

F. Ahmad, M. Ansar, S. Mehmood, A. Izoduwa, K. Lee, A. Nasir, M. Abrar, S. Mehmood, A. Ullah, A. Aziz, University of Washington Center for Mendelian Genomics, J.D. Smith, J. Shendure, M.J. Bamshad, D.A. Nicekrson, R.L.P. Santos-Cortez, S.M. Leal, W. Ahmad

J Eur Acad Dermatol Venereol. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: J Eur Acad Dermatol Venereol. 2016 Dec; 30(12): e210–e213. Published online 2015 Dec 21. doi: 10.1111/jdv.13540

PMCID:: PMC5093081

Article PDF–280K

Select item 52981815.

PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

Susanne Grond, Thomas O. Eichmann, Sandrine Dubrac, Dagmar Kolb, Matthias Schmuth, Judith Fischer, Debra Crumrine, Peter M. Elias, Guenter Haemmerle, Rudolf Zechner, Achim Lass, Franz P.W. Radner

J Invest Dermatol. Author manuscript; available in PMC 2017 Feb 8.

Published in final edited form as: J Invest Dermatol. 2017 Feb; 137(2): 394–402. Published online 2016 Oct 14. doi: 10.1016/j.jid.2016.08.036

PMCID:: PMC5298181

Abstract Article PDF–1.6M

Select item 53379766.

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis

Tetsuya Hirabayashi, Tatsuki Anjo, Arisa Kaneko, Yuuya Senoo, Akitaka Shibata, Hiroyuki Takama, Kohei Yokoyama, Yasumasa Nishito, Tomio Ono, Choji Taya, Kazuaki Muramatsu, Kiyoko Fukami, Agustí Muñoz-Garcia, Alan R. Brash, Kazutaka Ikeda, Makoto Arita, Masashi Akiyama, Makoto Murakami

Nat Commun. 2017; 8: 14609. Published online 2017 Mar 1. doi: 10.1038/ncomms14609

PMCID:: PMC5337976

Abstract Article PDF–2.3M

Select item 22910007.

Genetic Variants Associated with Arsenic Susceptibility: Study of Purine Nucleoside Phosphorylase, Arsenic (+3) Methyltransferase, and Glutathione S-Transferase Omega Genes

Sujata De Chaudhuri, Pritha Ghosh, Nilendu Sarma, Papiya Majumdar, Tanmoy Jyoti Sau, Santanu Basu, Susanta Roychoudhury, Kunal Ray, Ashok K. Giri

Environ Health Perspect. 2008 Apr; 116(4): 501–505. Published online 2008 Jan 14. doi: 10.1289/ehp.10581

PMCID:: PMC2291000

Abstract Article PDF–136K

Select item 26691258.

Genetic Variance in the Adiponutrin Gene Family and Childhood Obesity

Lovisa E. Johansson, Lina M. Johansson, Pernilla Danielsson, Svante Norgren, Stina Johansson, Claude Marcus, Martin Ridderstråle

PLoS One. 2009; 4(4): e5327. Published online 2009 Apr 24. doi: 10.1371/journal.pone.0005327

PMCID:: PMC2669125

Abstract Article PDF–92K

Select item 26746979.

Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions

Petra C. Kienesberger, Monika Oberer, Achim Lass, Rudolf Zechner

J Lipid Res. 2009 Apr; 50(Suppl): S63–S68. doi: 10.1194/jlr.R800082-JLR200

PMCID:: PMC2674697

Abstract Article PDF–585K

Select item 461721110.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 553161111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503012.

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

Abstract Article PDF–2.2M

Select item 13924113.

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

Abstract Article PDF–118K

Select item 317805914.

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

Abstract Article PDF–1.0M

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