List of works - Diana Blaydon

A null mutation in the Bacillus subtilis aconitase gene causes a block in Spo0A-phosphate-dependent gene expression ⬇️

scientific article published on December 1, 1997

Defective channels lead to an impaired skin barrier

scientific article published on September 2014

Fabry disease: 20 novel GLA mutations in 35 families

scientific article published on 01 November 2001

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.

scientific article published on October 2005

IRHOM2: A REGULATOR OF PALMOPLANTAR BIOLOGY, INFLAMMATION AND VIRAL SUSCEPTIBILITY

scientific article published on 17 October 2020

Inflammatory skin and bowel disease linked to ADAM17 deletion

scientific article published in October 2011

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

scientific journal article

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

scientific article

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

scientific article

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia

scientific journal article

R-spondins in cutaneous biology: nails and cancer.

scientific article published on 9 April 2007

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

scientific article

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair

scientific article published on 11 November 2017

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.

scientific article published on 27 January 2017

Rhomboid proteins: a role in keratinocyte proliferation and cancer.

scientific article published on 21 December 2012

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation

scientific article

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

scientific article published on 20 September 2012

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

scientific article published on 01 April 2003

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

scientific article

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.

scientific article published on 9 March 2018

List of works by Diana Blaydon

A null mutation in the Bacillus subtilis aconitase gene causes a block in Spo0A-phosphate-dependent gene expression ⬇️

Defective channels lead to an impaired skin barrier

Fabry disease: 20 novel GLA mutations in 35 families

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.

IRHOM2: A REGULATOR OF PALMOPLANTAR BIOLOGY, INFLAMMATION AND VIRAL SUSCEPTIBILITY

Inflammatory skin and bowel disease linked to ADAM17 deletion

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia

R-spondins in cutaneous biology: nails and cancer.

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.

Rhomboid proteins: a role in keratinocyte proliferation and cancer.

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.