Publications by authors named "Alan Lehmann"

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Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R Lehmann

Clin Genet· January 2026

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XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
Hiva Fassihi, Shehla Mohammed, Yuka Nakazawa, Heather Fawcett, Sally Turner, Alan R Lehmann

J Clin Invest· November 2025

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TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.
Yuka Nakazawa, Lin Ye, Yasuyoshi Oka, Hironobu Morinaga, Kana Kato, Alan R Lehmann

J Clin Invest· November 2025

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A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.
Anita van den Heuvel, Annelotte P Wondergem, Mihyun Kim, Isa Breet, Hyun Suk Kim, Alan R Lehmann

J Invest Dermatol· September 2025

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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and haploinsufficiency syndrome.
Nicolas Le May, Jérémie Courraud, Imène Boujelbène, Cathy Obringer, Tomoo Ogi, Alan R Lehmann

Front Neurosci· March 2025

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Skin Cancer Induction by the Antimycotic Drug Voriconazole Is Caused by Impaired DNA Damage Detection Due to Chromatin Compaction.
Sara Giovannini, Lisa Weibel, Birgit Schittek, Tobias Sinnberg, Martin Schaller, Alan Lehmann

J Invest Dermatol· November 2024

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Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system.
Cherif Badja, Sophie Momen, Gene Ching Chiek Koh, Soraya Boushaki, Theodoros I Roumeliotis, Alan Lehmann

Cell Rep· June 2024

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Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Alan R Lehmann

Brain· December 2023

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Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Andrey A Yurchenko, Fatemeh Rajabi, Tirzah Braz-Petta, Hiva Fassihi, Alan Lehmann

Nat Commun· May 2023

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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Alan R Lehmann

Pediatr Neurol· April 2023

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Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
Adesoji Abiona, Nuno Cordeiro, Heather Fawcett, Deborah Tamura, Sikandar G Khan, Alan R Lehmann

Pediatrics· October 2021

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Alan R Lehmann

Hum Mol Genet· August 2021

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Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.
Kohji Kato, Seiji Mizuno, Jenny Morton, Miho Toyama, Yuichiro Hara, Alan Lehmann

Am J Med Genet A· January 2021

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Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum.
Alan R Lehmann, Hiva Fassihi

DNA Repair (Amst)· September 2020

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UBR5 interacts with the replication fork and protects DNA replication from DNA polymerase η toxicity.
Lina Cipolla, Federica Bertoletti, Antonio Maffia, Chih-Chao Liang, Alan R Lehmann

Nucleic Acids Res· December 2019

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Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.
Rosella Abeti, Anna Zeitlberger, Colm Peelo, Hiva Fassihi, Robert P E Sarkany, Alan R Lehmann

Br J Pharmacol· November 2019

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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Arjan F Theil, Elena Botta, Anja Raams, Desiree E C Smith, Marisa I Mendes, Alan Lehmann

Am J Hum Genet· August 2019

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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Nadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Alan Robert Lehmann

J Med Genet· May 2018

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Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Hector Garcia-Moreno, Hiva Fassihi, Robert P E Sarkany, Julie Phukan, Thomas Warner, Alan R Lehmann

Ann Clin Transl Neurol· January 2018

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Phosphorylation regulates human polη stability and damage bypass throughout the cell cycle.
Federica Bertoletti, Valentina Cea, Chih-Chao Liang, Taiba Lanati, Antonio Maffia, Alan R Lehmann

Nucleic Acids Res· September 2017

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Specialized interfaces of Smc5/6 control hinge stability and DNA association.
Aaron Alt, Hung Q Dang, Owen S Wells, Luis M Polo, Matt A Smith, Alan R Lehmann

Nat Commun· January 2017

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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
Saskia N van der Crabben, Marije P Hennus, Grant A McGregor, Deborah I Ritter, Sandesh C S Nagamani, Alan R Lehmann

J Clin Invest· August 2016

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A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Mieran Sethi, Shaheen Haque, Heather Fawcett, Jonathan F Wing, Natalie Chandler, Alan R Lehmann

J Invest Dermatol· April 2016

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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Christiane Kuschal, Elena Botta, Donata Orioli, John J Digiovanna, Sara Seneca, Alan R Lehmann

Am J Hum Genet· April 2016

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Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan Wing, Natalie Chandler, Alan R Lehmann

Proc Natl Acad Sci U S A· March 2016

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