| Reference Type: | Reference |
| Citation: | Bohr VA, Sander M, Kraemer KH. Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center. DNA Repair (Amst). 2005 Feb 3;4(2):293-302. |
| PMID: | 15678607 |
| Reference Type: | Reference |
| Citation: | Terunuma A, Ye J, Emmert S, Khan SG, Kraemer KH, Vogel JC. Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes. Gene Ther. 2004 Dec;11(23):1729-34. |
| PMID: | 15334113 |
| Reference Type: | Reference |
| Citation: | Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. |
| PMID: | 12177305 |
| Reference Type: | Reference |
| Citation: | Robbins JH, Kraemer KH, Merchant SN, Brumback RA. Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case. Clin Neuropathol. 2002 Jan-Feb;21(1):18-23. |
| PMID: | 11846040 |
| Reference Type: | Reference |
| Citation: | Suzuki H, Kalair W, Shivji GM, Wang B, Toto P, Amerio P, Kraemer KH, Sauder DN. Impaired ultraviolet-B-induced cytokine induction in xeroderma pigmentosum fibroblasts. J Invest Dermatol. 2001 Nov;117(5):1151-5. |
| PMID: | 11710926 |
| Reference Type: | Reference |
| Citation: | Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M, Bale SJ, Emmert S, Kraemer KH. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis. 2000 Oct;21(10):1821-5. |
| PMID: | 11023539 |
| Reference Type: | Results Reference |
| Citation: | Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis. 2006 Jan;27(1):84-94. Epub 2005 Aug 4. |
| PMID: | 16081512 |
| Reference Type: | Results Reference |
| Citation: | Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ. Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol. 2005 Feb;52(2):224-32. |
| PMID: | 15692466 |
| Reference Type: | Results Reference |
| Citation: | Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet. 2004 Feb 1;13(3):343-52. Epub 2003 Dec 8. |
| PMID: | 14662655 |
| Reference Type: | Results Reference |
| Citation: | Khan S, Shahlavi T, Busch DB: Identification of XP-C heterozygotes using real-time quantitative reverse transcriptase-PCR: a novel approach to study the cancer susceptibility in XP-C gene carriers. [Abstract] The Fourth Joint Meeting of the European Society for Dermatology Research (ESDR), the Japanese Society for Investigative Dermatology (JSID), and the Society for Investigative Dermatology (SID), 30 April - 4 May, Miami, Florida. A-0647, 100, 2003. |
| Reference Type: | Results Reference |
| Citation: | Liang C, Price V, Kraemer KH: Tiger tail banding and hair shaft abnormalities in trichothiodystrophy and other hair disorders. [Abstract] The Fourth Joint Meeting of the European Society for Dermatology Research (ESDR), the Japanese Society for Investigative Dermatology (JSID), and the Society for Investigative Dermatology (SID), 30 April - 4 May, Miami, Florida. A-0792, 107, 2003. |
| Reference Type: | Results Reference |
| Citation: | Ueda T, Khan SG, Shahlavi T: Rapid RFLP detection of mutations and functional alterations in the human XPD DNA repair gene. [Abstract] The Fourth Joint Meeting of the European Society for Dermatology Research (ESDR), the Japanese Society for Investigative Dermatology (JSID), and the Society for Investigative Dermatology (SID), 30 April - 4 May, Miami, Florida. A-0644, 100, 2003. |
| Reference Type: | Results Reference |
| Citation: | Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol. 2002 Jun;118(6):972-82. Erratum in: J Invest Dermatol. 2003 Jan;120(1):173. |
| PMID: | 12060391 |
| Reference Type: | Results Reference |
| Citation: | Yavuz S, Yavuz AS, Kraemer KH, Lipsky PE. The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant. J Immunol. 2002 Oct 1;169(7):3825-30. |
| PMID: | 12244178 |
| Reference Type: | Results Reference |
| Citation: | Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet. 2001 Oct 15;10(22):2539-47. |
| PMID: | 11709541 |
| Reference Type: | Results Reference |
| Citation: | Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J Invest Dermatol. 2001 Aug;117(2):197-204. |
| PMID: | 11511294 |
| Reference Type: | Results Reference |
| Citation: | Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I. Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001;5(6):225-42. Review. |
| PMID: | 11764181 |
| Reference Type: | Results Reference |
| Citation: | Zeng X, Winter DB, Kasmer C, Kraemer KH, Lehmann AR, Gearhart PJ. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. Nat Immunol. 2001 Jun;2(6):537-41. |
| PMID: | 11376341 |
| Reference Type: | Results Reference |
| Citation: | Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol. 2000 Dec;115(6):974-80. |
| PMID: | 11121128 |