Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

JD Fine, L Bruckner-Tuderman, RAJ Eady… - Journal of the American …, 2014 - Elsevier
Background Several new targeted genes and clinical subtypes have been identified since
publication in 2008 of the report of the last international consensus meeting on diagnosis …

[HTML][HTML] Desmosome structure, composition and function

D Garrod, M Chidgey - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2008 - Elsevier
Desmosomes are intercellular junctions of epithelia and cardiac muscle. They resist
mechanical stress because they adopt a strongly adhesive state in which they are said to be …

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

BD Hobbs, K De Jong, M Lamontagne, Y Bossé… - Nature …, 2017 - nature.com
Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide.
We performed a genetic association study in 15,256 cases and 47,936 controls, with …

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

JD Fine, RAJ Eady, EA Bauer, JW Bauer… - Journal of the American …, 2008 - Elsevier
BACKGROUND: Since publication in 2000 of the Second International Consensus Report
on Diagnosis and Classification of Epidermolysis Bullosa, many advances have been made …

The desmosome

E Delva, DK Tucker… - Cold Spring Harbor …, 2009 - cshperspectives.cshlp.org
Desmosomes are intercellular junctions that tether intermediate filaments to the plasma
membrane. Desmogleins and desmocollins, members of the cadherin superfamily, mediate …

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues

JD Fine, JE Mellerio - Journal of the American Academy of Dermatology, 2009 - Elsevier
Based upon case reports and small case series, it has been known for many years that
some types and subtypes of inherited epidermolysis bullosa (EB) may be at risk for …

[图书][B] Paller and Mancini-Hurwitz Clinical Pediatric Dermatology E-Book: A textbook of skin disorders of childhood and adolescence

AS Paller, AJ Mancini - 2020 - books.google.com
Written by two leaders in the field of pediatric dermatology, this classic text provides both
detailed content for the specialist and easily accessible information for the non …

The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease

M Delmar, WJ McKenna - Circulation research, 2010 - Am Heart Assoc
Intercellular communication is essential for proper cardiac function. Mechanical and
electrical activity need to be synchronized so that the work of individual myocytes transforms …

Inherited epidermolysis bullosa

JD Fine - Orphanet journal of rare diseases, 2010 - Springer
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by
recurrent blister formation as the result of structural fragility within the skin and selected other …

Diseases of the nails

R Baran, S Lipner - Roxburgh's Common Skin Diseases, 2022 - api.taylorfrancis.com
Overview: Nails grow at the approximate rate of 1 mm each day. Fingernails take six months
to progress from the base to the end of the finger, and toenails take nine months to reach the …