Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

Glycine Substitution ◽

Gene Dosage Effect on γ-Secretase Component Aph-1b in a Rat Model for Neurodevelopmental Disorders

Neuron ◽

10.1016/j.neuron.2004.12.054 ◽

2005 ◽

Vol 45 (4) ◽

pp. 497-503 ◽

Cited By ~ 30

Author(s):

Marcel W. Coolen ◽

Karen M.J. Van Loo ◽

Nick N.H.M. Van Bakel ◽

David J. Pulford ◽

Lutgarde Serneels ◽

...

Keyword(s):

Rat Model ◽

Neurodevelopmental Disorders ◽

Gene Dosage ◽

Dosage Effect ◽

A recurrent ‘hot spot’ glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2014.04.006 ◽

2014 ◽

Vol 75 (1) ◽

pp. 69-71 ◽

Cited By ~ 2

Author(s):

Wataru Nishie ◽

Ken Natsuga ◽

Hideki Nakamura ◽

Takamasa Ito ◽

Ellen Toyonaga ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Hot Spot ◽

Glycine Substitution ◽

Substitution Mutation ◽

Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2010.11.002 ◽

2011 ◽

Vol 61 (1) ◽

pp. 64-67 ◽

Cited By ~ 9

Author(s):

Monika Ołdak ◽

Weronika Szczecińska ◽

Dorota Przybylska ◽

Radosław B. Maksym ◽

Marta Podgórska ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Gene Dosage ◽

Dosage Effect ◽

Epidermolysis Bullosa Simplex ◽

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

Acta Endocrinologica ◽

10.1530/acta.0.114s095 ◽

1987 ◽

Vol 116 (3_Suppl) ◽

pp. S95-S96

Author(s):

D. VOGLIOLO ◽

H. WINKING ◽

R. KNUPPEN

Keyword(s):

Glucocorticoid Receptor ◽

Gene Dosage ◽

Dosage Effect ◽

Trisomy 18 ◽

Nanomechanical properties of collagen VII anchoring fibrils in recessive dystrophic epidermolysis bullosa patients

10.26226/morressier.595a9c56d462b80296c9f764 ◽

2017 ◽

Author(s):

Balázs Mayer

Keyword(s):

Epidermolysis Bullosa ◽

Nanomechanical Properties ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Apparent Lack of Gene Dosage Effect in the PLT Assay

Scandinavian Journal of Immunology ◽

10.1111/j.1365-3083.1977.tb02116.x ◽

1977 ◽

Vol 6 (5) ◽

pp. 529-532 ◽

Cited By ~ 3

Author(s):

S. JARAMILLO ◽

G. ANHORN ◽

F. SCHUNTER ◽

P. WERNET

Keyword(s):

Gene Dosage ◽

Dosage Effect ◽

Gene Dosage Effect ◽

Apparent Lack

Intracellular Accumulation of Collagen VII in Cultured Keratinocytes from a Patient with Dominant Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12371741 ◽

1994 ◽

Vol 102 (1) ◽

pp. 105-110 ◽

Cited By ~ 14

Author(s):

Adrian König ◽

Michael Raghunath ◽

Beat Steinmann ◽

Leena Bruckner-Tuderman

Keyword(s):

Epidermolysis Bullosa ◽

Intracellular Accumulation ◽

Cultured Keratinocytes ◽

Gene dosage effect in expression of blood group antigens

The Laryngoscope ◽

10.1288/00005537-197302000-00002 ◽

1973 ◽

Vol 83 (2) ◽

pp. 167-172

Author(s):

Li-Tsun Chen ◽

Joseph A. Davidenas ◽

Roal F. Ruth

Keyword(s):

Blood Group ◽

Gene Dosage ◽

Dosage Effect ◽

Blood Group Antigens ◽

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00397.x ◽

1998 ◽

Vol 111 (5) ◽

pp. 744-750 ◽

Cited By ~ 30

Author(s):

Michela Terracina ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Margit Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Mild Form ◽

Site Mutation ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Col7a1 Gene

Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12335324 ◽

1997 ◽

Vol 108 (2) ◽

pp. 224-228 ◽

Cited By ~ 37

Author(s):

Atsushi Kon ◽

John A. McGrath ◽

Leena Pulkkinen ◽

Kazuo Nomura ◽

Takehiko Nakamura ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations