Genetische Ursachen schwerer Wundheilungsstörungen

Elsharkawi-Welt, Katrin; Hepp, J.; Scharffetter‐­Kochanek, Karin

doi:10.1007/s00105-008-1591-2

Cited by 10 publications

(5 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…55 However, unregulated healing processes, due to genetic or epigenetic factors, can lead to impairment in cellular function. 56 , 57 Macé et al 41 have shown antiproliferative and hyperapoptotic phenotype in KC-affected cornea, which also reveals a defect in wound healing process. Aquaporins (AQPs) are a ubiquitous family of transmembrane water channels to maintain tear film osmolarity, stromal layer thickness, and corneal transparency.…”

Section: Discussionmentioning

confidence: 99%

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas

Khaled

Bykhovskaya

Yablonski

et al. 2018

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

PurposeKeratoconus (KC) is the most common corneal ectasia. We aimed to determine the differential expression of coding and long noncoding RNAs (lncRNAs) in human corneas affected with KC.MethodsFrom the corneas of 10 KC patients and 8 non-KC healthy controls, 200 ng total RNA was used to prepare sequencing libraries with the SMARTer Stranded RNA-Seq kit after ribosomal RNA depletion, followed by paired-end 50-bp sequencing with Illumina Sequencer. Differential analysis was done using TopHat/Cufflinks with a gene file from Ensembl and a lncRNA file from NONCODE. Pathway analysis was performed using WebGestalt. Using the expression level of differentially expressed coding and noncoding RNAs in each sample, we correlated their expression levels in KC and controls separately and identified significantly different correlations in KC against controls followed by visualization using Cytoscape.ResultsUsing |fold change| ≥ 2 and a false discovery rate ≤ 0.05, we identified 436 coding RNAs and 584 lncRNAs with differential expression in the KC-affected corneas. Pathway analysis indicated the enrichment of genes involved in extracellular matrix, protein binding, glycosaminoglycan binding, and cell migration. Our correlation analysis identified 296 pairs of significant KC-specific correlations containing 117 coding genes enriched in functions related to cell migration/motility, extracellular space, cytokine response, and cell adhesion. Our study highlighted the potential roles of several genes (CTGF, SFRP1, AQP5, lnc-WNT4-2:1, and lnc-ALDH3A2-2:1) and pathways (TGF-β, WNT signaling, and PI3K/AKT pathways) in KC pathogenesis.ConclusionsOur RNA-Seq–based differential expression and correlation analyses have identified many potential KC contributing coding and noncoding RNAs.

show abstract

Section: Discussionmentioning

confidence: 99%

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas

Khaled

Bykhovskaya

Yablonski

et al. 2018

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

show abstract

“…Corneal wound healing is a complex process controlled by the integrated actions of multiple growth factors, cytokines, and proteases produced by epithelial cells, stromal keratocytes, and inflammatory cells 49 . However, unregulated healing processes, due to genetic or epigenetic factors, can lead to impairment in cellular function 50,51 .…”

Section: Discussionmentioning

confidence: 99%

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-affected Corneas

Khaled

Bykhovskaya

Yablonski

et al. 2018

Preprint

View full text Add to dashboard Cite

PURPOSE Keratoconus (KC) is the most common corneal ectasia. We aimed to determine the differential expression of coding and long noncoding RNAs (lncRNAs) in human corneas affected with KC.METHODS 200ng total RNA from the corneas of 10 KC patients and 8 non-KC normal controls was used to prepare sequencing libraries with the SMARTer Stranded RNA-Seq kit after ribosomal RNA depletion. Paired-end 50bp sequences were generated using Illumina HiSeq 2500Sequencer. Differential analysis was done using TopHat and Cufflinks with a gene file from Ensembl and a lncRNA file from NONCODE. Pathway analysis was performed using WebGestalt.Using the expression level of differentially expressed coding and noncoding RNAs in each sample, we correlated their expression levels in KC and controls separately and identified significantly different correlations in KC against controls followed by visualization using Cytoscape. RESULTSUsing |fold change| ≥ 2 and a false discovery rate ≤ 0.05, we identified 436 coding RNAs and 584 lncRNAs with differential expression in the KC-affected corneas. Pathway analysis indicated the enrichment of genes involved in extracellular matrix, protein binding, glycosaminoglycan binding, and cell migration. Our correlation analysis identified 296 pairs of significant KC-specific correlations containing 117 coding genes enriched in functions related with cell migration/motility, extracellular space, cytokine response, and cell adhesion, suggesting the potential functions of these correlated lncRNAs, especially those with multiple pairs of correlations.CONCLUSIONS Our RNA-Seq based differential expression and correlation analyses have identified many potential KC contributing coding and noncoding RNAs.

show abstract

“…Von den zahlreichen potenziell mit dem Auftreten eines Ulcus cruris assoziierten genetischen Erkrankungen (16) (13). Somit kommt es gehäuft zu einem Ulcus cruris postthromboticum.…”

Section: Genetische Defekteunclassified

Differenzialdiagnosen des Ulcus cruris venosum

Dissemond¹

2011

Phlebologie

View full text Add to dashboard Cite

ZusammenfassungEs wird geschätzt, dass in Deutschland etwa 1% der erwachsenen Bevölkerung an einem Ulcus cruris unterschiedlichster Genese leidet. Auch wenn die chronische venöse Insuffizienz und die periphere arterielle Verschlusskrankheit bei etwa 80% aller Patienten mit einem Ulcus cruris pathophysiologisch relevant sind, so ist doch die Kenntnis der relevanten Differenzialdiagnosen insbesondere bei therapierefraktären Verläufen von entscheidender Be-deutung. Es existieren neben Vasculitiden auch neuropathische, metabolische, hämatologische und exogene Faktoren sowie Neoplasien, Infektionen, Medikamente, genetische Defekte und primäre Dermatosen, die ein Ulcus cruris verursachen können. Bei vielen Pa-tienten können es auch multiple Faktoren sein, die zu einem Ulcus cruris führen bzw. dessen Abheilung trotz scheinbar adäquater Behandlung verhindern. Als relevante Ko-Faktoren können hier beispielsweise Adipositas, Diabetes mellitus, Ekzeme, (Lymph-)Ödeme oder arterielle Hypertonie eine bedeutende Rolle spielen.Für eine dauerhaft erfolgreiche Behandlung der Patienten mit einem Ulcus cruris ist es so-mit von entscheidender Bedeutung alle relevanten Faktoren der Pathogenese zu diagnostizieren, um eine kausal ansetzende, dauerhaft erfolgreiche Therapie zu gewährleis-ten.

show abstract

Genetische Ursachen schwerer Wundheilungsstörungen

Cited by 10 publications

References 46 publications

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-affected Corneas

Differenzialdiagnosen des Ulcus cruris venosum

Contact Info

Product

Resources

About