Cargando…

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

PURPOSE: We aimed to assess the biological and clinical significance of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in diseases of human hair and skin. METHODS: Exome and Sanger sequencing was performed to reveal the genetic cause in two related patients with hypotr...

Descripción completa

Detalles Bibliográficos
Autores principales:	van den Bogaard, Ellen H. J., van Geel, Michel, van Vlijmen-Willems, Ivonne M. J. J., Jansen, Patrick A. M., Peppelman, Malou, van Erp, Piet E. J., Atalay, Selma, Venselaar, Hanka, Simon, Marleen E. H., Joosten, Marieke, Schalkwijk, Joost, Zeeuwen, Patrick L. J. M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752276/ https://www.ncbi.nlm.nih.gov/pubmed/30425301 http://dx.doi.org/10.1038/s41436-018-0355-3

Ejemplares similares

Cathepsin B as a potential cystatin M/E target in the mouse hair follicle
por: Oortveld, Merel A. W., et al.
Publicado: (2017)

Identification of Keratinocyte Mitogens: Implications for Hyperproliferation in Psoriasis and Atopic Dermatitis
por: Niehues, Hanna, et al.
Publicado: (2021)

Immortalized N/TERT keratinocytes as an alternative cell source in 3D human epidermal models
por: Smits, Jos P. H., et al.
Publicado: (2017)

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp
por: van der Velden, Jaap J. A. J., et al.
Publicado: (2019)

Novel methodologies for host-microbe interactions and microbiome-targeted therapeutics in 3D organotypic skin models
por: Rikken, Gijs, et al.
Publicado: (2023)

The aryl hydrocarbon receptor regulates epidermal differentiation through transient activation of TFAP2A
por: Smits, Jos P.H., et al.
Publicado: (2023)

OR5-002 – In vitro studies in Schnitzler’s syndrome
por: De Koning, HD, et al.
Publicado: (2013)

Carboxamide Derivatives Are Potential Therapeutic AHR Ligands for Restoring IL-4 Mediated Repression of Epidermal Differentiation Proteins
por: Rikken, Gijs, et al.
Publicado: (2022)

Vesicular hand eczema transcriptome analysis provides insights into its pathophysiology
por: Voorberg, Angelique N., et al.
Publicado: (2021)

Skin Barrier Impairment due to the Occlusive Effect of Firefighter Clothing
por: van den Eijnde, Wilbert, et al.
Publicado: (2020)

Anatomical site variation of water content in human skin measured by the Epsilon: A pilot study
por: Logger, Jade G. M., et al.
Publicado: (2019)

Understanding the Acute Skin Injury Mechanism Caused by Player-Surface Contact During Soccer: A Survey and Systematic Review
por: van den Eijnde, Wilbert A.J., et al.
Publicado: (2014)

Skin microbiota in health and disease: From sequencing to biology
por: Ederveen, Thomas H. A., et al.
Publicado: (2020)

In vivo Reflectance Confocal Microscopy: A Useful Tool to Select the Location of a Punch Biopsy in a Large, Clinically Indistinctive Lesion
por: Peppelman, Malou, et al.
Publicado: (2013)

Bimatoprost 0.03% for the Treatment of Eyebrow Hypotrichosis
por: Carruthers, Jean, et al.
Publicado: (2016)

Marie-Unna Hereditary Hypotrichosis
por: Srinivas, Sahana M, et al.
Publicado: (2014)

Know your enemy: Unexpected, pervasive and persistent viral and bacterial contamination of primary cell cultures
por: Niehues, Hanna, et al.
Publicado: (2020)

β-Defensin-2 Protein Is a Serum Biomarker for Disease Activity in Psoriasis and Reaches Biologically Relevant Concentrations in Lesional Skin
por: Jansen, Patrick A. M., et al.
Publicado: (2009)

Bimatoprost in the treatment of eyelash hypotrichosis
por: Law, Simon K
Publicado: (2010)

Hereditary Hypotrichosis Simplex of the Scalp
por: Moravvej-Farshi, Hamideh, et al.
Publicado: (2014)

Hypotrichosis with Juvenile Macular Dystrophy
por: Almeida, Filipa Tavares, et al.
Publicado: (2018)

Rosacea and Use of Continuous Positive Airway Pressure Mask for Obstructive Sleep Apnea Syndrome: Report of Five Cases
por: Logger, Jade G. M., et al.
Publicado: (2020)

Successful Regulatory T Cell-Based Therapy Relies on Inhibition of T Cell Effector Function and Enrichment of FOXP3+ Cells in a Humanized Mouse Model of Skin Inflammation
por: Landman, S., et al.
Publicado: (2020)

A generic workflow for Single Locus Sequence Typing (SLST) design and subspecies characterization of microbiota
por: Ederveen, Thomas H. A., et al.
Publicado: (2019)

Management of hypotrichosis of the eyelashes: Focus on bimatoprost
por: Fagien, Steven
Publicado: (2010)

Hypotrichosis in a Child with Olmsted Syndrome
por: Polly, David, et al.
Publicado: (2018)

Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice
por: Egging, David F., et al.
Publicado: (2008)

Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis
por: Chanasumon, Nongsak, et al.
Publicado: (2018)

Diagnosis of Basal Cell Carcinoma by Reflectance Confocal Microscopy: Study Design and Protocol of a Randomized Controlled Multicenter Trial
por: Peppelman, Malou, et al.
Publicado: (2016)

Terminal keratinocyte differentiation in vitro is associated with a stable DNA methylome
por: Smits, Jos P. H., et al.
Publicado: (2020)

PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome
por: De Koning, HD, et al.
Publicado: (2013)

Microbiome dynamics of human epidermis following skin barrier disruption
por: Zeeuwen, Patrick LJM, et al.
Publicado: (2012)

Genetically Programmed Differences in Epidermal Host Defense between Psoriasis and Atopic Dermatitis Patients
por: Zeeuwen, Patrick L. J. M., et al.
Publicado: (2008)

A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response
por: Bronkhorst, Alfred W., et al.
Publicado: (2014)

CRISPR-Cas9‒Based Genomic Engineering in Keratinocytes: From Technology to Application
por: Smits, Jos P.H., et al.
Publicado: (2021)

The alpha-kinase family: an exceptional branch on the protein kinase tree
por: Middelbeek, Jeroen, et al.
Publicado: (2009)

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
por: Armour, John A. L., et al.
Publicado: (2007)

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
por: Scalzo, Giovanna Carnovale, et al.
Publicado: (2021)

Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
por: Vastarella, Marina, et al.
Publicado: (2022)

Congenital Hypotrichosis, Eruptive Milia, and Palmoplantar Pits: A Case Report with Review of Literature
por: Tharini, GK, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_8g5df6sfnaovsh10vbsfbh84qa