نتایج جستجو برای: kindler syndrome

تعداد نتایج: 622010  

Journal: :Archives of dermatology 2006
Joanna M Burch Hiva Fassihi Catherine A Jones Sarah C Mengshol James E Fitzpatrick John A McGrath

BACKGROUND Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal ke...

2002
Subhash Chandra Das Subhash Chandra Gupta Soumya Basu Daya Ram

Based on carbamazepine's hypothesized ability to stabilize temporal lobe seizures and behavioral disorders and its ability to inhibit limbic system excitability in models such as kindling, we undertook this study with the aims of finding out the response of carbamazepine in kindler and non kindler groups and to see the relationship of socio-demographic and clinical variables in kindler and non-...

Journal: :European Annals of Otorhinolaryngology, Head and Neck Diseases 2018

2014
Elisabeth Zapatero-Solana Jose Luis García-Giménez Sara Guerrero-Aspizua Marta García Agustí Toll Eulalia Baselga Maria Durán-Moreno Jelena Markovic Jose Manuel García-Verdugo Claudio J Conti Cristina Has Fernando Larcher Federico V Pallardó Marcela Del Rio

BACKGROUND Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosi...

Journal: :The Turkish journal of pediatrics 2015
Mehmet Mutlu Ersan Kalay Beril Dilber Yakup Aslan Embiya Dilber Nour Almaani John A McGrath

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with py...

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