Results 51 to 60 of about 2,763 (196)

Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. [PDF]

PLoS ONE, 2015
In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease.
Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, Julio Benavides, Valentín Perez, Gwenola Tosser-Klopp, Christophe Klopp, Stephen J Keennel, Juan José Arranz   +7 more
doaj   +1 more source

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency

, 2000
SummaryHerlitz junctional epidermolysis bullosa is a heritable bullous disease caused by mutations found primarily in the β3 chain of laminin 5 (LAMB3).
Uitto, Jouni, Pfendner, Ellen, Hashimoto, Isao, Nakano, Aoi, Pulkkinen, Leena   +4 more
core   +1 more source

Long‐Term Efficacy and Safety of Oleogel‐S10 (Birch Triterpenes) for Pediatric Patients With Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Pediatric patients with epidermolysis bullosa (EB) experience lifelong complications, and wound healing is an important treatment goal. In the phase III EASE study (NCT03068780), Oleogel‐S10 accelerated wound healing in EB.
Eli Sprecher, Mauricio Torres‐Pradilla, Maria Florencia Fernandez, Christine Bodemer, Anna L. Bruckner, Silvia Maria de Macedo Barbosa, Andrea Diociaiuti, Anna E. Martinez, Francis Palisson, Miloš Nikolić, Asunción Vicente, Raúl de Lucas, Noemi Toiber Temin, Sandra Löwe, Johannes S. Kern, Dédée F. Murrell, the EASE Study Group   +16 more
wiley   +1 more source

Anaesthesia for children with junctional epidermolysis bullosa (letalis) [PDF]

Canadian Journal of Anaesthesia, 1987
The anaesthetic management of two children with junctional epidermolysis bullosa, formerly called the letalis form, is described. Anaesthesia for children with this disease has not been described previously. Special precautions were taken to avoid mucosal injury and some customary monitoring devices were omitted.
R S, Holzman, H M, Worthen, K L, Johnson
openaire   +2 more sources

Real‐World Experience With Oleogel‐S10 for Wounds in Epidermolysis Bullosa

JEADV Clinical Practice
Background Oleogel‐S10 is the first approved drug for the treatment of wounds in patients with junctional and dystrophic epidermolysis bullosa. Results from the clinical trials, early access programme and open‐label study are available, showing good ...
Miodrag Davidovic, Stella Gewert, Cristina Has   +2 more
doaj   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Expression of Integrin α6β4 in Junctional Epidermolysis Bullosa [PDF]

, 1992
The integrin α6β4 is a member of the integrin family of adhesion receptors. The integrin α6β4 is preferentially expressed in stratified squamous epithelia, where it is localized in hemidesmosomes. A reduced number of rudimentary he- midesmosomes is often
Heeres, Klaas, HEERES, K, DEJONG, MCJM, de Jong, Marcelus C J M, Heeres, Klaas., JONKMAN, MF, SONNENBERG, A, de Jong, Marcelus C.J.M., Jonkman, Marcel F., Sonnenberg, Arnoud, Sonnenberg, Arnoud., Jonkman, Marcel F   +11 more
core   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

The use of immunofluorescence antigen mapping in the diagnosis of junctional epidermolysis bullosa in a 15-year-old female

Indian Journal of Paediatric Dermatology, 2020
Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, characterized by blistering of the skin and mucosae following mechanical trauma, which includes four major forms (EB simplex, junctional EB [JEB], dystrophic
Ankita Choudhary, Deval Mistry, Rima Joshi, Bela Shah   +3 more
doaj   +1 more source

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review

Frontiers in Pediatrics, 2023
ObjectiveThis article aims to explore the diagnosis, molecular characteristics, treatment, and prognosis of epidermolysis bullosa with pyloric atresia (EB-PA).MethodsThe clinical manifestations, diagnosis and treatment, and genetic characteristics of a ...
Caiyun Luo, Liucheng Yang, Zhaorong Huang, Yuqian Su, Yi Lu, Daiyue Yu, Mengzhen Zhang, Kai Wu   +7 more
doaj   +1 more source