Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
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
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
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
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Fong K et al.
Clinical and Experimental Dermatology, 2015
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 in a British pedigree with keratosis follicularis spinulosa decalvans.
Fong K et al.
Clinical and Experimental Dermatology, 2012
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
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Aten E et al.
Human Mutation, 2010
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.
Ding YG et al.
The British Journal of Dermatology, 2010