Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2009 2
2011 2
2018 1
2019 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
Akiyama M. Akiyama M. J Dermatol Sci. 2006 May;42(2):83-9. doi: 10.1016/j.jdermsci.2006.01.003. Epub 2006 Feb 14. J Dermatol Sci. 2006. PMID: 16481150 Free article. Review.
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. ...Transglutaminse 1 deficiency was re
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis
Corneal dystrophies.
Klintworth GK. Klintworth GK. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Orphanet J Rare Dis. 2009. PMID: 19236704 Free PMC article. Review.
Most corneal dystrophies have no systemic manifestations and present with variable shaped corneal opacities in a clear or cloudy cornea and they affect visual acuity to different degrees. Corneal dystrophies may have a simple autosomal dominant, autosomal recessi
Most corneal dystrophies have no systemic manifestations and present with variable shaped corneal opacities in a clear or cloudy cornea and …
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Herman ML, et al. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...We report 23 novel mutations: 71 (62%) missense; 20 (17%) nonsense; 9 (8%) deletion; 8 (7%) splice-site, and 7 (6%) insertion. Th
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...We
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H. Uitto J, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431. Acta Derm Venereol. 2020. PMID: 32147742 Free PMC article. Review.
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifest …
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically he …
Malignant skin tumours in patients with inherited ichthyosis.
Natsuga K, Akiyama M, Shimizu H. Natsuga K, et al. Br J Dermatol. 2011 Aug;165(2):263-8. doi: 10.1111/j.1365-2133.2011.10381.x. Epub 2011 Jul 11. Br J Dermatol. 2011. PMID: 21517795 Review.
Inherited ichthyoses are rare genodermatoses caused by mutations in the genes involved in epidermal development. Although there have been case reports on patients with ichthyosis who developed skin malignancies, it is still unknown whether or not patients with ichthyosi
Inherited ichthyoses are rare genodermatoses caused by mutations in the genes involved in epidermal development. Although there have been ca …
Order and disorder in corneocyte adhesion.
Ishida-Yamamoto A, Igawa S, Kishibe M. Ishida-Yamamoto A, et al. J Dermatol. 2011 Jul;38(7):645-54. doi: 10.1111/j.1346-8138.2011.01227.x. Epub 2011 May 4. J Dermatol. 2011. PMID: 21545505 Review.
Abnormal corneodesmosome degradation is also found in more common skin diseases including ichthyosis vulgaris, atopic dermatitis, psoriasis vulgaris, lichen planus and soap-induced xerosis....
Abnormal corneodesmosome degradation is also found in more common skin diseases including ichthyosis vulgaris, atopic dermatitis, pso …
The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function.
Hirabayashi T, Murakami M, Kihara A. Hirabayashi T, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Jun;1864(6):869-879. doi: 10.1016/j.bbalip.2018.09.010. Epub 2018 Oct 2. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 30290227 Review.
However, the recent finding that mutations in the human PNPLA1 gene are linked to autosomal recessive congenital ichthyosis (ARCI), as well as evidence obtained from biochemical and gene knockout studies, has shed light on the function of this enzyme i …
However, the recent finding that mutations in the human PNPLA1 gene are linked to autosomal recessive congenital ich