R
Roger A. Schultz
Researcher at University of Texas Southwestern Medical Center
Publications - 57
Citations - 26443
Roger A. Schultz is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 27, co-authored 57 publications receiving 24988 citations. Previous affiliations of Roger A. Schultz include University of Texas at Dallas.
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Journal ArticleDOI
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene
Masashi Demura,Regina Matsunaga Martin,Regina Matsunaga Martin,Makio Shozu,Siby Sebastian,Kazuto Takayama,Wei Tong Hsu,Roger A. Schultz,Kirk Neely,Michael Bryant,Berenice B. Mendonca,Keiichi Hanaki,Susumu Kanzaki,David B. Rhoads,Madhusmita Misra,Serdar E. Bulun +15 more
TL;DR: Five distinct heterozygous rearrangements responsible for aromatase excess syndrome are characterized in three unrelated families and two individuals and taken together may create cryptic promoters that direct inappropriate transcription of CYP19 or other critical genes.
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Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene
Makio Shozu,Siby Sebastian,Kazuto Takayama,Wei Tong Hsu,Roger A. Schultz,Kirk Neely,Michael R. Bryant,Serdar E. Bulun +7 more
TL;DR: Heterozygous inversions in chromosome 15q21.2-3, which caused the coding region of the aromatase gene to lie adjacent to constitutively active cryptic promoters that normally transcribe other genes, resulted in severe estrogen excess owing to the overexpression of aromat enzyme in many tissues.
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Chromosome instability and tumor predisposition inversely correlate with BLM protein levels.
Lisa D. McDaniel,Nicholas Chester,Mark J. Watson,Alexander D. Borowsky,Philip Leder,Philip Leder,Roger A. Schultz +6 more
TL;DR: Evaluation of viable animals reveals an inverse correlation between the quantity of Blm protein and the level of chromosome instability and a similar genotypic relationship for tumor predisposition indicating that Blmprotein is rate limiting for maintaining genomic stability and the avoidance of tumors.
Journal ArticleDOI
Cloning, mapping and characterization of the human RAB27A gene.
Tanya Tolmachova,José S. Ramalho,Janmeet S. Anant,Roger A. Schultz,Clare Huxley,Miguel C. Seabra +5 more
TL;DR: The characterization of the human RAB27A gene is reported, suggesting that the degenerative process in CHM may result from unprenylation and consequent loss-of-function of Rab27a.
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Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene
TL;DR: The genomic organization of the XPD (ERCC2) gene is characterized and it is found to be comprised of 23 exons, confirming the role of ERCC2 in XP-D and illustrating the power of utilizing cellular phenotypes to evaluate the significance of single nucleotide substitutions.