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DNA polymerase epsilon may be dispensable for SV40‐ but not cellular‐DNA replication

The EMBO journal, 1996-05, Vol.15 (9), p.2298-2305

1996

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Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes

Journal of cell science, 2006-02, Vol.119 (Pt 4), p.625-635

2006

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The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro

Matrix biology, 2002-11, Vol.21 (7), p.559-566

2002

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Role of deoxyribonucleic acid polymerase epsilon in spermatogenesis in mice

Biology of reproduction, 1997-12, Vol.57 (6), p.1367-1374

1997

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Identification of Amino Acids Important for the Catalytic Activity of the Collagen Glucosyltransferase Associated with the Multifunctional Lysyl Hydroxylase 3 (LH3)

The Journal of biological chemistry, 2002-05, Vol.277 (21), p.18568-18573

2002

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TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis

Chromosoma, 2004-05, Vol.112 (7), p.323-330

2004

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A neutralizing antibody against human DNA polymerase epsilon inhibits cellular but not SV40 DNA replication

Nucleic acids research, 1999-10, Vol.27 (19), p.3799-3804

1999

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Human DNA polymerase ε is expressed during cell proliferation in a manner characteristic of replicative DNA polymerases

Nucleic acids research, 1995-06, Vol.23 (12), p.2178-2183

1995

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The human breast cell DNA synthesome: its purification from tumor tissue and cell culture

Oncology research, 1996, Vol.8 (10-11), p.435

1996

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Structural relationship between DNA polymerases epsilon and epsilon and their occurrence in eukaryotic cells

Nucleic acids research, 1995-01, Vol.23 (2), p.244-247

1995

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Mapping specific protein-protein interactions within the core component of the breast cell DNA synthesome

Oncology research, 1997, Vol.9 (11-12), p.629

1997

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The 3'→5' exonuclease associated with HeLa DNA polymerase epsilon

Chromosoma, 1992-01, Vol.102 (1), p.S142-S146

1992

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Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

PLoS genetics, 2016-10, Vol.12 (10), p.e1006369-e1006369

2016

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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.614-627

2020

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The Activation and Function of Host Matrix Metalloproteinases in Dentin Matrix Breakdown in Caries Lesions

Journal of dental research, 1998-08, Vol.77 (8), p.1622-1629

1998

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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

Acta dermato-venereologica, 2020-03, Vol.100 (7), p.adv00095-185

2020

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Matrix metalloproteinase‐7 in periodontitis with type 2 diabetes mellitus

Journal of periodontal research, 2018-10, Vol.53 (5), p.916-923

2018

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307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S233-S233

2022

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258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S44

2022

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Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

British journal of dermatology (1951), 2019-09, Vol.181 (3), p.584-586

2019

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Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.729-737

2020

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876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S150-S150

2023

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Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2017-08, Vol.177 (2), p.342-343

2017

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GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

British journal of dermatology (1951), 2021-06, Vol.184 (6), p.1170-1174

2021

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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

British journal of dermatology (1951), 2017-07, Vol.177 (1), p.319-322

2017

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(197)
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Molecular Sequence Data
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Base Sequence
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Collagen - Genetics
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Cells, Cultured
(57)
Bullous Diseases Of The Skin
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DNA polymerase epsilon may be dispensable for SV40‐ but not cellular‐DNA replication

Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes

The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro

Role of deoxyribonucleic acid polymerase epsilon in spermatogenesis in mice

Identification of Amino Acids Important for the Catalytic Activity of the Collagen Glucosyltransferase Associated with the Multifunctional Lysyl Hydroxylase 3 (LH3)

TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis

A neutralizing antibody against human DNA polymerase epsilon inhibits cellular but not SV40 DNA replication

Human DNA polymerase ε is expressed during cell proliferation in a manner characteristic of replicative DNA polymerases

The human breast cell DNA synthesome: its purification from tumor tissue and cell culture

Structural relationship between DNA polymerases epsilon and epsilon and their occurrence in eukaryotic cells

Mapping specific protein-protein interactions within the core component of the breast cell DNA synthesome

The 3'→5' exonuclease associated with HeLa DNA polymerase epsilon

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

The Activation and Function of Host Matrix Metalloproteinases in Dentin Matrix Breakdown in Caries Lesions

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

Matrix metalloproteinase‐7 in periodontitis with type 2 diabetes mellitus

307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

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