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Alan R Lehmann

Showing results (81-90 of 90) with videos related to

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Cancer Cell|August 15, 2006
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeriaJaan-Olle Andressoo, James R Mitchell, Jan de Wit, et al.
Nature Genetics|April 3, 2012
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairYuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, et al.
DNA Repair|March 23, 2013
SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalitiesLimei Ju, Jonathan Wing, Elaine Taylor, et al.
Human Molecular Genetics|April 28, 2021
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophyElena Botta, Arjan F Theil, Anja Raams, et al.
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
American Journal of Human Genetics|April 30, 2013
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaKazuya Kashiyama, Yuka Nakazawa, Daniela T Pilz, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectHiva Fassihi, Mieran Sethi, Heather Fawcett, et al.
Cell Reports|December 3, 2014
Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomesChristina L Zheng, Nicholas J Wang, Jongsuk Chung, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Pageof 9

Showing results (81-90 of 90) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 90 results.
Cancer Cell|August 15, 2006
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeriaJaan-Olle Andressoo, James R Mitchell, Jan de Wit, et al.
Nature Genetics|April 3, 2012
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairYuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, et al.
DNA Repair|March 23, 2013
SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalitiesLimei Ju, Jonathan Wing, Elaine Taylor, et al.
Human Molecular Genetics|April 28, 2021
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophyElena Botta, Arjan F Theil, Anja Raams, et al.
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
American Journal of Human Genetics|April 30, 2013
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaKazuya Kashiyama, Yuka Nakazawa, Daniela T Pilz, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectHiva Fassihi, Mieran Sethi, Heather Fawcett, et al.
Cell Reports|December 3, 2014
Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomesChristina L Zheng, Nicholas J Wang, Jongsuk Chung, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Pageof 9