Ocular Manifestations of Xeroderma Pigmentosum

Brian P. Brooks, A. Thompson, Rachel Bishop, +17

Ophthalmology

Ocular DiseaseOphthalmologyHistopathologyOcular ManifestationsOcular Pathology +2

Characterization of proteoglycan accumulation during formation of cartilagenous tissue in vitro

Jennifer Boyle, Bo Luan, Tony F. Cruz, +1

Osteoarthritis and Cartilage

Tissue EngineeringEngineeringBone Morphogenic ProteinHuman TissueCartilage Degeneration +10

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with<i>ERCC2</i>(<i>XPD</i>) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, +7

Human Mutation

Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage

Kyu‐Seon Oh, Kyoko Imoto, Jennifer Boyle, +2

DNA repair

Genome InstabilityDna DamageBiochemistryChromatin RemodelingUv-induced Dna Damage +7

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

Xiaolong Zhou, Sikandar G. Khan, Deborah Tamura, +6

European Journal of Human Genetics

ChromatinGenome InstabilityXeroderma PigmentosumGenetic DisorderNatural Sciences +8

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)

Steffen Emmert, Takahiro Ueda, Urs Zumsteg, +9

Experimental Dermatology

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Malcolm Hawkins, Jennifer Boyle, Kathleen E. Wright, +12

European Journal of Human Genetics

Fragile X SyndromeGenetic TestingMendelian DisorderGenetic DisorderGenetics +5

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Jennifer Boyle, Malcolm Hawkins, David Barton, +9

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathogenesisAngelman Syndromes +9

<i>XPC</i>branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients

Sikandar G. Khan, Koji Yamanegi, Zhi‐Ming Zheng, +6

Human Mutation

GeneticsRna SplicingMolecular BiologyMolecular GeneticsSplicing Variant +14

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

Deborah Tamura, Sikandar G. Khan, Melissa A. Merideth, +8

European Journal of Human Genetics

InfertilityDevelopmental BiologyGenetic DisorderGeneticsReproductive Health +9