U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 21

1.
Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21.
L J McKinley-Grant, W W Idler, I A Bernstein, D A Parry, L Cannizzaro, C M Croce, K Huebner, S R Lessin, P M Steinert
Proc Natl Acad Sci U S A. 1989 Jul; 86(13): 4848–4852. doi: 10.1073/pnas.86.13.4848
PMCID:
PMC297512
SummaryPage BrowsePDF–1.2M
2.
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status
S. P. Smieszek, S. Welsh, C. Xiao, J. Wang, C. Polymeropoulos, G. Birznieks, M. H. Polymeropoulos
Sci Rep. 2020; 10: 2721. Published online 2020 Feb 17. doi: 10.1038/s41598-020-59627-7
PMCID:
PMC7026049
AbstractArticlePDF–1.6M
3.
Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome
Bo-wen Zheng, Xian-zhong Zhu, Yu Lan, Jian-chi Ma, Xi-qing Li
JAAD Case Rep. 2019 Dec; 5(12): 1061–1064. Published online 2019 Nov 22. doi: 10.1016/j.jdcr.2019.09.023
PMCID:
PMC6881632
ArticlePDF–895K
4.
Type XVIII Collagen Modulates Keratohyalin Granule Formation and Keratinization in Oral Mucosa
Ha Thi Thu Nguyen, Mitsuaki Ono, Emilio Satoshi Hara, Taishi Komori, Midori Edamatsu, Tomoko Yonezawa, Aya Kimura-Ono, Kenji Maekawa, Takuo Kuboki, Toshitaka Oohashi
Int J Mol Sci. 2019 Oct; 20(19): 4739. Published online 2019 Sep 24. doi: 10.3390/ijms20194739
PMCID:
PMC6801805
AbstractArticlePDF–2.5M
5.
Gene expression analysis of conjunctival epithelium of patients with Stevens-Johnson syndrome in the chronic stage
Mayumi Ueta, Chie Sotozono, Hiromi Nishigaki, Suzuko Ohsako, Norihiko Yokoi, Katsura Mizushima, Yuji Naito, Shigeru Kinoshita
BMJ Open Ophthalmol. 2019; 4(1): e000254. Published online 2019 Jun 16. doi: 10.1136/bmjophth-2018-000254
PMCID:
PMC6579564
AbstractArticlePDF–405K
6.
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M. van der Werf, Wim Wuyts, Dusica Babovic‐Vuksanovic, Eric W. Klee
Mol Genet Genomic Med. 2019 Mar; 7(3): e00560. Published online 2019 Jan 10. doi: 10.1002/mgg3.560
PMCID:
PMC6418362
AbstractArticlePDF–1.6M
7.
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies
Djuro Karanovic, Ian C. Michelow, Anthony R. Hayward, Suk See DeRavin, Ottavia M. Delmonte, Michael E. Grigg, Adam Kerry Dobbs, Julie E. Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D. Rosenzweig, Gulbu Uzel, Luigi D. Notarangelo
Front Immunol. 2019; 10: 77. Published online 2019 Feb 14. doi: 10.3389/fimmu.2019.00077
PMCID:
PMC6413717
AbstractArticlePDF–3.3M
8.
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Caroline F. Wright, Ben West, Marcus Tuke, Samuel E. Jones, Kashyap Patel, Thomas W. Laver, Robin N. Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew T. Hattersley, Michael N. Weedon
Am J Hum Genet. 2019 Feb 7; 104(2): 275–286. Published online 2019 Jan 18. doi: 10.1016/j.ajhg.2018.12.015
PMCID:
PMC6369448
AbstractArticlePDF–574K
9.
Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
Xiong Wang, Lu Tan, Na Shen, Yanjun Lu, Ying Zhang
BMC Med Genet. 2018; 19: 120. Published online 2018 Jul 18. doi: 10.1186/s12881-018-0642-5
PMCID:
PMC6052571
AbstractArticlePDF–1.3M
10.
Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI)
Conny Tanjung, Peter Rzehak, Muchtaruddin Mansyur, Zakiudin Munasir, Herawati Sudoyo, Suzanna Immanuel, Roedi Irawan, Eva Reischl, Hans Demmelmair, Berthold Koletzko, Sri Rezeki Hadinegoro, Damayanti Rusli Sjarif
BMJ Open. 2017; 7(3): e012475. Published online 2017 Mar 3. doi: 10.1136/bmjopen-2016-012475
PMCID:
PMC5353254
AbstractArticlePDF–621K
11.
Anti-inflammatory and immunomodulatory effects of Aquaphilus dolomiae extract on in vitro models
Marie-Françoise Aries, Hélène Hernandez-Pigeon, Clémence Vaissière, Hélène Delga, Antony Caruana, Marguerite Lévêque, Muriel Bourrain, Katia Ravard Helffer, Bertrand Chol, Thien Nguyen, Sandrine Bessou-Touya, Nathalie Castex-Rizzi
Clin Cosmet Investig Dermatol. 2016; 9: 421–434. Published online 2016 Nov 10. doi: 10.2147/CCID.S113180
PMCID:
PMC5108493
AbstractArticlePDF–1.0M
12.
Comparison of Stemness and Gene Expression between Gingiva and Dental Follicles in Children
Chung-Min Kang, Seong-Oh Kim, Mijeong Jeon, Hyung-Jun Choi, Han-Sung Jung, Jae-Ho Lee
Stem Cells Int. 2016; 2016: 8596520. Published online 2016 Aug 30. doi: 10.1155/2016/8596520
PMCID:
PMC5021492
AbstractArticlePDF–3.4M
13.
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
Akshatha Desai, John J. Connolly, Michael March, Cuiping Hou, Rosetta Chiavacci, Cecilia Kim, Gholson Lyon, Dexter Hadley, Hakon Hakonarson
BMC Musculoskelet Disord. 2016; 17: 80. Published online 2016 Feb 16. doi: 10.1186/s12891-016-0936-8
PMCID:
PMC4754938
AbstractArticlePDF–1.4M
14.
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
Nicoletta Zoppi, Nicola Chiarelli, Valeria Cinquina, Marco Ritelli, Marina Colombi
Hum Mol Genet. 2015 Dec 1; 24(23): 6769–6787. Published online 2015 Sep 16. doi: 10.1093/hmg/ddv382
PMCID:
PMC4634379
AbstractArticlePDF–1.2M
15.
Exome sequencing of Filaggrin and related genes in African-American children with atopic dermatitis
David J. Margolis, Jayanta Gupta, Andrea J. Apter, Ole Hoffstad, Maryte Papadopoulos, Tim R. Rebbeck, Bradley Wubbenhorst, Nandita Mitra
J Invest Dermatol. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: J Invest Dermatol. 2014 Aug; 134(8): 2272–2274. Published online 2014 Mar 7. doi: 10.1038/jid.2014.126
PMCID:
PMC4102628
ArticlePDF–66K
16.
Homeobox D10 Gene, a Candidate Tumor Suppressor, Is Downregulated through Promoter Hypermethylation and Associated with Gastric Carcinogenesis
Liangjing Wang, Shujie Chen, Meng Xue, Jing Zhong, Xian Wang, Lihong Gan, Emily KY Lam, Xin Liu, Jianbin Zhang, Tianhua Zhou, Jun Yu, Hongchuan Jin, Jianmin Si
Mol Med. 2012; 18(1): 389–400. Published online 2011 Dec 8. doi: 10.2119/molmed.2011.00172
PMCID:
PMC3356424
AbstractArticlePDF–3.2M
17.
Real-time PCR quantification of the canine filaggrin orthologue in the skin of atopic and non-atopic dogs: a pilot study
Joana Barros Roque, Caroline A O'Leary, Myat Kyaw-Tanner, David L Duffy, Michael Shipstone
BMC Res Notes. 2011; 4: 554. Published online 2011 Dec 21. doi: 10.1186/1756-0500-4-554
PMCID:
PMC3339370
AbstractArticlePDF–324K
18.
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
Magnus K. Bjursell, Henk J. Blom, Jordi Asin Cayuela, Martin L. Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard Struys, Ulrika von Döbeln, Claes M. Gustafsson, Joakim Lundeberg, Anna Wedell
Am J Hum Genet. 2011 Oct 7; 89(4): 507–515. doi: 10.1016/j.ajhg.2011.09.004
PMCID:
PMC3188832
AbstractArticlePDF–623K
19.
Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing
Can Alkan, Jeffrey M. Kidd, Tomas Marques-Bonet, Gozde Aksay, Francesca Antonacci, Fereydoun Hormozdiari, Jacob O. Kitzman, Carl Baker, Maika Malig, Onur Mutlu, S. Cenk Sahinalp, Richard A. Gibbs, Evan E. Eichler
Nat Genet. Author manuscript; available in PMC 2010 May 24.
Published in final edited form as: Nat Genet. 2009 Oct; 41(10): 1061–1067. Published online 2009 Aug 30. doi: 10.1038/ng.437
PMCID:
PMC2875196
AbstractArticlePDF–1.4M
20.
Function of caspase-14 in trophoblast differentiation
Lloyd J White, Wim Declercq, Frank Arfuso, Adrian K Charles, Arun M Dharmarajan
Reprod Biol Endocrinol. 2009; 7: 98. Published online 2009 Sep 14. doi: 10.1186/1477-7827-7-98
PMCID:
PMC2753366
AbstractArticlePDF–724K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center