Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters

2019 ◽  
Vol 17 (7) ◽  
pp. 742-745 ◽  
Author(s):  
Magdalena Seidl‐Philipp ◽  
Anna Sarah Schossig ◽  
Verena Moosbrugger‐Martinz ◽  
Johannes Zschocke ◽  
Matthias Schmuth ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Missense Mutations ◽  
Epidermal Barrier ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

Two missense mutations inCYP4F22in autosomal recessive congenital ichthyosis

2016 ◽  
Vol 42 (1) ◽  
pp. 98-100 ◽  
Author(s):  
C. Feng ◽  
H. Wang ◽  
M. Lee ◽  
J. Zhao ◽  
Z. Lin ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Missense Mutations ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

2007 ◽  
Vol 157 (4) ◽  
pp. 808-810 ◽  
Author(s):  
G. Esposito ◽  
G. Tadini ◽  
F. Paparo ◽  
A. Viola ◽  
L. Ieno ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Molecular Screening ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

2004 ◽  
Vol 20 (6) ◽  
pp. 325-332 ◽  
Author(s):  
R. M. Shawky ◽  
N.S. Sayed ◽  
N.A. Elhawary
Keyword(s):  
Restriction Endonuclease ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
The Other ◽  
Splice Acceptor ◽  
Acceptor Splice Site ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by theMspIrestriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.

scholarly journals Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

2019 ◽  
Vol 40 (12) ◽  
pp. 2318-2333 ◽  
Author(s):  
Nadja Ballin ◽  
Alrun Hotz ◽  
Emmanuelle Bourrat ◽  
Julia Küsel ◽  
Vinzenz Oji ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Autosomal Recessive ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

2019 ◽  
Vol 40 (3) ◽  
pp. 288-298 ◽  
Author(s):  
Leila Youssefian ◽  
Hassan Vahidnezhad ◽  
Amir Hossein Saeidian ◽  
Andrew Touati ◽  
Soheila Sotoudeh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Ichthyosis ◽  
Phenotypic Spectrum ◽  
Genomic Landscape ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Autosomal Recessive Congenital Ichthyosis

2013 ◽  
Vol 104 (4) ◽  
pp. 270-284 ◽  
Author(s):  
L. Rodríguez-Pazos ◽  
M. Ginarte ◽  
A. Vega ◽  
J. Toribio
Keyword(s):  
Autosomal Recessive ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis

2019 ◽  
Vol 201 ◽  
pp. 104-109 ◽  
Author(s):  
Noreen Karim ◽  
Blythe Durbin-Johnson ◽  
David M. Rocke ◽  
Michelle Salemi ◽  
Brett S. Phinney ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Defects ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia

2015 ◽  
Vol 78 (1) ◽  
pp. 82-85 ◽  
Author(s):  
Sanae Numata ◽  
Kwesi Teye ◽  
Rafal P. Krol ◽  
Tadashi Karashima ◽  
Shunpei Fukuda ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis
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