Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

2007 ◽  
Vol 39 (5) ◽  
pp. 650-654 ◽  
Author(s):  
Aileen Sandilands ◽  
Ana Terron-Kwiatkowski ◽  
Peter R Hull ◽  
Gráinne M O'Regan ◽  
Timothy H Clayton ◽  
...  
Keyword(s):  
Atopic Eczema ◽  
Comprehensive Analysis ◽  
Gene Encoding ◽  
Rare Mutations ◽  
Ichthyosis Vulgaris

scholarly journals Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

2006 ◽  
Vol 126 (8) ◽  
pp. 1770-1775 ◽  
Author(s):  
Aileen Sandilands ◽  
Gráinne M. O'Regan ◽  
Haihui Liao ◽  
Yiwei Zhao ◽  
Ana Terron-Kwiatkowski ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Gene Encoding ◽  
Rare Mutations ◽  
Ichthyosis Vulgaris

scholarly journals Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

2009 ◽  
Vol 129 (5) ◽  
pp. 1302-1305 ◽  
Author(s):  
Toshifumi Nomura ◽  
Masashi Akiyama ◽  
Aileen Sandilands ◽  
Ikue Nemoto-Hasebe ◽  
Kaori Sakai ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Japanese Patients ◽  
Gene Encoding ◽  
Rare Mutations ◽  
Ichthyosis Vulgaris

scholarly journals Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Guy Massa ◽  
Philippe Gillis ◽  
Marianne Schwartz
Keyword(s):  
Genetic Analysis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Gene Encoding ◽  
Rare Mutations

A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of theCYP21A2gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. An early moustache, for which the term premature moustache can be coined, can be the presenting symptom of nonclassic CAH. In all children presenting with a sex or age inappropriate development of a moustache, an endocrine evaluation is indicated.

scholarly journals Stagonospora avenae Secretes Multiple Enzymes that Hydrolyze Oat Leaf Saponins

2000 ◽  
Vol 13 (10) ◽  
pp. 1041-1052 ◽  
Author(s):  
John P. Morrissey ◽  
Jos P. Wubben ◽  
Anne E. Osbourn
Keyword(s):  
Antifungal Activity ◽  
Leaf Tissue ◽  
Phytopathogenic Fungi ◽  
Comprehensive Analysis ◽  
Gaeumannomyces Graminis ◽  
Phytopathogenic Fungus ◽  
Gene Encoding ◽  
Sugar Chain ◽  
Hydrolyzing Enzymes ◽  
Hydrolysis Of

The phytopathogenic fungus Stagonospora avenae is able to infect oat leaves despite the presence of avenacoside saponins in the leaf tissue. In response to pathogen attack, avenacosides are converted into 26-desglucoavenacosides (26-DGAs), which possess antifungal activity. These molecules are comprised of a steroidal backbone linked to a branched sugar chain consisting of one α-L-rhamnose and two (avenacoside A) or three (avenacoside B) β-D-glucose residues. Isolates of the fungus that are pathogenic to oats are capable of sequential hydrolysis of the sugar residues from the 26-DGAs. Degradation is initiated by removal of the L-rhamnose, which abolishes antifungal activity. The D-glucose residues are then hydrolyzed by β-glucosidase activity. A comprehensive analysis of saponin-hydrolyzing activities was undertaken, and it was established that S. avenae isolate WAC1293 secretes three enzymes, one α-rhamnosidase and two β-glucosidases, that carry out this hydrolysis. The major β-glucosidase was purified and the gene encoding the enzyme cloned. The protein is similar to saponin-hydrolyzing enzymes produced by three other phytopathogenic fungi, Gaeumannomyces graminis, Septoria lycopersici, and Botrytis cinerea, and is a family 3 β-glucosidase. The gene encoding the β-glucosidase is expressed during infection of oat leaves but is not essential for pathogenicity.

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

2006 ◽  
Vol 38 (3) ◽  
pp. 337-342 ◽  
Author(s):  
Frances J D Smith ◽  
Alan D Irvine ◽  
Ana Terron-Kwiatkowski ◽  
Aileen Sandilands ◽  
Linda E Campbell ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Gene Encoding ◽  
Ichthyosis Vulgaris
Sign in / Sign up

Export Citation Format

Share Document