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Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (48), p.19483-19488

2013

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A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome

The Journal of clinical investigation, 2023-10, Vol.133 (19), p.1-16

2023

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Predisposition to hematologic malignancies in patients with xeroderma pigmentosum

Haematologica (Roma), 2020-04, Vol.105 (4), p.e144

2020

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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

American journal of human genetics, 2016-04, Vol.98 (4), p.627-642

2016

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Shining a Light on Xeroderma Pigmentosum

Journal of investigative dermatology, 2012-03, Vol.132 (3), p.785-796

2012

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Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation

PloS one, 2018-06, Vol.13 (6), p.e0198011-e0198011

2018

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Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

Frontiers in oncology, 2023-10, Vol.13, p.1282823-1282823

2023

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Systemic retinoids in the management of ichthyoses and related skin types

Dermatologic therapy, 2013-01, Vol.26 (1), p.26-38

2013

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Global Contributions to the Understanding of DNA Repair and Skin Cancer

Journal of investigative dermatology, 2014-10, Vol.134 (e1), p.E8-E17

2014

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Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

BMC neurology, 2021-10, Vol.21 (1), p.1-393, Article 393

2021

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Basic Science Insights into Clinical Puzzles

Dermatologic clinics, 2017-01, Vol.35 (1), p.ix-x

DiGiovanna, John J., MD

2017

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Histopathologic characterization of epidermolytic hyperkeratosis: A systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology, 2008-07, Vol.59 (1), p.86-90

2008

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Ocular Manifestations of Xeroderma Pigmentosum

Ophthalmology (Rochester, Minn.), 2013-07, Vol.120 (7), p.1324-1336

2013

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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

American journal of human genetics, 2002-05, Vol.70 (5), p.1341-1348

2002

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High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients

Pigment cell and melanoma research, 2014-05, Vol.27 (3), p.454-464

2014

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Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients

Experimental dermatology, 2015-04, Vol.24 (4), p.296-297

2015

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Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (15), p.6279-6284

2009

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Rapid development of migratory, linear, and serpiginous lesions in association with immunosuppression

Journal of the American Academy of Dermatology, 2014-06, Vol.70 (6), p.1130-1134

2014

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Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

Survey of ophthalmology, 2011-07, Vol.56 (4), p.348-361

2011

Volltextzugriff (PDF)

Knowledge is power

British journal of dermatology (1951), 2022-04, Vol.186 (4), p.607-608

2022

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Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology, 2016-05, Vol.74 (5), p.1008-1010.e2

2016

Volltextzugriff (PDF)

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.831-837

2013

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Nature genetics, 1998-12, Vol.20 (4), p.366-369

1998

Volltextzugriff (PDF)

Xeroderma Pigmentosum: A Model for Human Premature Aging

Journal of investigative dermatology, 2021-04, Vol.141 (4), p.976-984

2021

Volltextzugriff (PDF)

Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health

Photochemistry and photobiology, 2015-03, Vol.91 (2), p.452-459

2015

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Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

Shining a Light on Xeroderma Pigmentosum

Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

Systemic retinoids in the management of ichthyoses and related skin types

Global Contributions to the Understanding of DNA Repair and Skin Cancer

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

Basic Science Insights into Clinical Puzzles

Histopathologic characterization of epidermolytic hyperkeratosis: A systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders

Ocular Manifestations of Xeroderma Pigmentosum

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Rapid development of migratory, linear, and serpiginous lesions in association with immunosuppression

Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

Knowledge is power

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Xeroderma Pigmentosum: A Model for Human Premature Aging

Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health

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