Search details
1.
Skin fragility and wound management in Ehlers- Danlos Syndrome: a report by the Ehlers Danlos Syndrome society skin working group.
Clin Exp Dermatol
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38767179
2.
Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.
J Am Acad Dermatol
; 89(3): 551-559, 2023 09.
Article
in English
| MEDLINE | ID: mdl-36764582
3.
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Genet Med
; 23(12): 2378-2385, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34272483
4.
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.
Acta Derm Venereol
; 101(9): adv00546, 2021 Sep 15.
Article
in English
| MEDLINE | ID: mdl-34396419
5.
Impaired proteoglycan glycosylation, elevated TGF-ß signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
PLoS Genet
; 14(3): e1007242, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29561836
6.
Inter-Laboratory Comparison of Extracellular Vesicle Isolation Based on Ultracentrifugation.
Transfus Med Hemother
; 48(1): 48-59, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33708052
7.
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Am J Hum Genet
; 100(6): 926-939, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-28575648
8.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Article
in English
| MEDLINE | ID: mdl-28065471
9.
ECM1 Prevents Activation of Transforming Growth Factor ß, Hepatic Stellate Cells, and Fibrogenesis in Mice.
Gastroenterology
; 157(5): 1352-1367.e13, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31362006
10.
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.
Mol Ther
; 27(5): 986-998, 2019 05 08.
Article
in English
| MEDLINE | ID: mdl-30930113
11.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Hum Mutat
; 40(12): 2318-2333, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31347739
12.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
Am J Hum Genet
; 99(6): 1395-1404, 2016 Dec 01.
Article
in English
| MEDLINE | ID: mdl-27889062
13.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
J Hum Genet
; 64(7): 609-616, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-31015584
14.
Database-augmented Mass Spectrometry Analysis of Exosomes Identifies Claudin 3 as a Putative Prostate Cancer Biomarker.
Mol Cell Proteomics
; 16(6): 998-1008, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28396511
15.
SILAC-Based Quantification of TGFBR2-Regulated Protein Expression in Extracellular Vesicles of Microsatellite Unstable Colorectal Cancers.
Int J Mol Sci
; 20(17)2019 Aug 26.
Article
in English
| MEDLINE | ID: mdl-31454892
16.
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hum Mutat
; 39(10): 1305-1313, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30011118
17.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 107(2): 374, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32763190
18.
TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells.
Cell Commun Signal
; 15(1): 14, 2017 04 04.
Article
in English
| MEDLINE | ID: mdl-28376875
19.
S1 guidelines for the diagnosis and treatment of ichthyoses - update.
J Dtsch Dermatol Ges
; 15(10): 1053-1065, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28976107
20.
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
J Biol Chem
; 290(29): 17679-17689, 2015 Jul 17.
Article
in English
| MEDLINE | ID: mdl-26004778