Associated Papers
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
Caengprasath N et al.
Journal of Dermatological Science, 2023
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A et al.
American Journal of Medical Genetics. Part A, 2022
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.
Lim PJ et al.
Frontiers in Genetics, 2021
Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
Basilious A et al.
Cornea, 2020
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.
Yang Z et al.
The Journal of Dermatology, 2019
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature.
Zhang J et al.
Clinical and Experimental Dermatology, 2016
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U et al.
Nature Communications, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.
Corujeira S et al.
European Journal of Medical Genetics, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D et al.
Human Mutation, 2013
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
Haghighi A et al.
The Journal of Investigative Dermatology, 2013
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
Naiki M et al.
American Journal of Medical Genetics. Part A, 2012
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Mégarbané H et al.
Orphanet Journal of Rare Diseases, 2011
A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.
Nakayama J et al.
Journal of Human Genetics, 2011
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Aten E et al.
Human Mutation, 2010
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Oeffner F et al.
American Journal of Human Genetics, 2009