Herlitz junctional epidermolysis bullosa (H-JEB) is an incurable, devastating, and mostly fatal inherited skin disease for which there is only supportive care. H-JEB is caused by loss-of-function mutations in LAMA3, LAMB3, or LAMC2, leading to complete loss of laminin 332, the major component of anchoring filaments, which mediate epidermal-dermal adherence....
https://ift.tt/2uichFe
Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
Αρχειοθήκη ιστολογίου
-
►
2020
(289)
- ► Φεβρουαρίου (28)
-
►
2019
(9071)
- ► Δεκεμβρίου (19)
- ► Σεπτεμβρίου (54)
- ► Φεβρουαρίου (3642)
- ► Ιανουαρίου (3200)
-
▼
2018
(39872)
- ► Δεκεμβρίου (3318)
- ► Σεπτεμβρίου (3683)
-
▼
Ιουλίου
(3378)
-
▼
Ιουλ 10
(253)
- Education in neuroanesthesia and neurocritical car...
- Anesthesia for awake craniotomy
- Opioid-free anesthesia: a different regard to anes...
- Genetics and genomics in postoperative pain and an...
- Is epidural analgesia still a viable option for en...
- The road to accreditation for fellowship training ...
- Anesthesia for electroconvulsive therapy
- Recent developments in ultrasound imaging for neur...
- Influence of chronic alcoholism and estrogen defic...
- Nature versus nurture in the spectrum of rheumatic...
- Subclinical cardiovascular disease and Systemic Sc...
- Inflammation and dementia: Using rheumatoid arthri...
- Efficacy and patient satisfaction in the use of su...
- Letter to the Editor: Autoimmune pathogenic mechan...
- Therapy of scleroderma renal crisis: State of the art
- Drug-induced lupus: Traditional and new concepts
- Classification of primary antiphospholipid syndrom...
- HLA-G protein expression in colorectal cancer eval...
- Oral Health Status of Children with Mouth Breathin...
- A novel rat model for assessment of laryngotrachea...
- Accuracy of Chest X-Ray Measurements of Pediatric ...
- Urinary Iodine Concentration and Mortality Among U...
- Correction to: Hypofractionated Radiotherapy Is Su...
- Changing Trend of Thyroglobulin Antibodies in Pati...
- Thyroid Hypoplasia in Congenital Hypothyroidism As...
- Comparative Histopathologic Analysis of “Radiogeni...
- An InDel in Phospholipase-C-B-1 Is Linked with Eut...
- Future Meetings
- Low-Activity Radioactive Iodine Therapy for Thyroi...
- Gly m 5/Gly m 8 fusion component as a potential no...
- Association Between Serum CK-18 Levels and the Deg...
- Contributors
- Copyright
- Injection Rhinoplasty Using Filler
- Alar Base Reduction and Alar-Columellar Relationship
- Septal Extension Graft in Asian Rhinoplasty
- Rhinoplasty for the Asian Nose
- Tip Grafting for the Asian Nose
- Contents
- Hump Nose Correction in Asians
- Hybrid Approach for Asian Rhinoplasty
- Forthcoming Issues
- Truly Asian Rhinoplasty
- Clinical Thyroidology®for the Public – Highlighted...
- Einfluss einer strukturierten Nachsorge auf die Th...
- Erratum: Economic Analysis of Using Free Fat Graft...
- Regular follow-up visits reduce the risk for asthm...
- Does long-term success from endoscopic DCR correla...
- Interleukin-18 as a diagnostic marker of adult-ons...
- Remote partner assisted skin self‐examination skil...
- Alcohol‐induced respiratory symptoms improve after...
- Reply to Yoshida: Liver cancer stem cells: Identif...
- Reply to Huang et al.: Avoiding “one-size-fits-all...
- Genome diversity of the potato [Biological Sciences]
- Correction for Edwards et al., Insight from the ma...
- Correction for Lampert et al., Shear force-based g...
- Correction for LeClere et al., Cross-resistance to...
- Degradation of unmethylated miRNA/miRNA*s by a DED...
- Multigenome analysis implicates miniature inverted...
- Real-time dynamics of mutagenesis reveal the chron...
- Direct cell-cell contact activates SigM to express...
- Vibrational coherence transfer in the ultrafast in...
- Disrupting LXR{alpha} phosphorylation promotes Fox...
- Kinetically guided radical-based synthesis of C(sp...
- Piano training enhances the neural processing of p...
- Gentamicin induces LAMB3 nonsense mutation readthr...
- Developmental prosopagnosics have widespread selec...
- Autoantibodies reactive to adrenocorticotropic hor...
- Unusual duplication mutation in a surface loop of ...
- Infratemporal fossa tumors: When to suspect a mali...
- NCI and VA collaborate to boost veterans’ access t...
- Multisystem amyloidosis as the unifying diagnosis ...
- Bilateral serpentine radio-opaque shadows near the...
- A case of posterior reversible encephalopathy synd...
- Gluten-free diet: a possible treatment for chronic...
- Unusual surgical emergency in a patient of dengue ...
- A novel mutation in Wiskott-Aldrich gene manifesti...
- Rectus sheath haematoma causing ureteric obstruction
- Giant abdominal metastasis from cardiac liposarcoma
- Mixed extragonadal germ cell tumour of the prostate
- Recurrent minor strokes/TIA with a right to left s...
- Empirical treatment of tuberculosis: TB or not TB?
- Cold agglutinin-mediated autoimmune haemolytic ana...
- Postoperative diffuse alveolar haemorrhage: insidi...
- Hybrid Monte Carlo on Hilbert spaces
- Atrial fibrillation monitoring to reduce thromboem...
- Using the forward movement of a container ship nav...
- The effect of modulating the dystrophic skeletal m...
- Device complications with addition of defibrillati...
- Adding Defibrillation Therapy to Cardiac Resynchro...
- Long non-coding RNA repertoire and targeting by nu...
- Increased midlife triglycerides predict brain -amy...
- Increased levels of ascorbic acid in the cerebrosp...
- Synthesis and Conformational Studies of the Lipid ...
- Rapid hull collapse strength calculations of doubl...
- Ultimate strength of cylindrical shells with cutouts
- Ultimate limit state-based multi-objective optimum...
- Negative Ions in Outer Solar System Plasmas: TItan...
- Growing Scientific Thinking with Fictional Picture...
- Research Update: Cellular “Garbage Disposal” Has A...
-
▼
Ιουλ 10
(253)
- ► Φεβρουαρίου (2693)
- ► Ιανουαρίου (3198)
-
►
2017
(41099)
- ► Δεκεμβρίου (3127)
- ► Σεπτεμβρίου (2173)
-
►
2016
(13807)
- ► Δεκεμβρίου (700)
- ► Σεπτεμβρίου (600)
- ► Φεβρουαρίου (1350)
- ► Ιανουαρίου (1400)
-
►
2015
(1500)
- ► Δεκεμβρίου (1450)
Ετικέτες
Τρίτη 10 Ιουλίου 2018
Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa [Genetics]
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου