Search Results - "Scaringe, William A"

Evidence for mutation showers by Wang, Jicheng, Gonzalez, Kelly D, Scaringe, William A, Tsai, Kimberly, Liu, Ning, Gu, Dongqing, Li, Wenyan, Hill, Kathleen A, Sommer, Steve S

“…Mutants in the Big Blue transgenic mouse system show spontaneous clustered multiple mutations with unexpectedly high frequency, consistent with…”
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mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin by Yang, Chunmei, Feng, Jinong, Song, Wenjia, Wang, Jicheng, Tsai, Becky, Zhang, Yunwu, Scaringe, William A, Hill, Kathleen A, Margaritis, Paris, High, Katherine A, Sommer, Steve S

“…Aminoglycosides can bypass nonsense mutations and are the prototypic agents for translational bypass therapy (TBT). Initial results demonstrate the need for…”
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Spontaneous mutation in Big Blue® mice from fetus to old age: Tissue-specific time courses of mutation frequency but similar mutation types by Hill, Kathleen A., Buettner, Victoria L., Halangoda, Asanga, Kunishige, Makoto, Moore, Stephen R., Longmate, Jeffrey, Scaringe, William A., Sommer, Steve S.

“…Transgenic mouse mutation detection systems permit rapid determination of the frequency and type of mutations allowing direct examination of mutational markers…”
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The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism by Brewer, Casey J., Gillespie, Meghan, Fierro, Joseph, Scaringe, William A., Li, Jie (Mickey), Lee, Che-yu, Yen, Hai-Yun, Gao, Hanlin, Strom, Samuel P.

“…When a potential disease-causing variant is detected in a proband, parental testing is used to determine the mode of inheritance. This study demonstrates that…”
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Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia by Song, Wenjia, Li, Wenyan, Feng, Jinong, Heston, Leonard L., Scaringe, William A., Sommer, Steve S.

“…The causes of schizophrenia remain elusive. In a large Scottish pedigree, a balanced translocation t(1;11) (q42.1;q14.3) disrupting the DISC1 and DISC2 genes…”
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Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice by Hill, Kathleen A., Halangoda, Asanga, Heinmoeller, Petra W., Gonzalez, Kelly, Chitaphan, Chaniga, Longmate, Jeffrey, Scaringe, William A., Wang, Ji-Cheng, Sommer, Steve S.

“…To better define the time course of spontaneous mutation frequency in middle to late adulthood of the mouse, measurements were made at 10, 14, 17, 23, 25, and…”
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Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations by Ketterling, Rhett P., Drost, Joni B., Scaringe, William A., Liao, Dong-zhou, Liu, Jing-zhong, Kasper, Carol K., Sommer, Steve S.

“…Small consensus sequences have been defined for RNA splicing, but questions about splicing in humans remain unanswered. Analysis of germline mutations in the…”
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Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking‐associated signature by Gu, Dongqing, Scaringe, William A., Li, Kai, Saldivar, Juan‐Sebastian, Hill, Kathleen A., Chen, Zhenbin, Gonzalez, Kelly D., Sommer, Steve S.

“…We created an Epidermal Growth Factor Receptor (EGFR) Mutation Database (http://www.cityofhope.org/cmdl/egfr_db) that curates a convenient compilation of…”
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Is Alu-mediated recombination an important cause of hemophilia? by Sommer, Steve S, Scaringe, William A, Hill, Kathleen A

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Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates by Scaringe, William A., Li, Kai, Gu, Dongqing, Gonzalez, Kelly D., Chen, Zhenbin, Hill, Kathleen A., Sommer, Steve S.

“…Somatic microindels (microdeletions with microinsertions) have been studied in normal mouse tissues using the Big Blue lacI transgenic mutation detection…”
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REF Select: expert system software for selecting restriction endonucleases for restriction endonuclease fingerprinting by Scaringe, W A, Liao, D, Liu, Q, Sommer, S S

“…REF Select, expert system software, has been developed to assist in the selection of optimal restriction endonucleases for restriction endonuclease…”
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Somatic microindels: analysis in mouse soma and comparison with the human germline by Gonzalez, Kelly D., Hill, Kathleen A., Li, Kai, Li, Wenyan, Scaringe, William A., Wang, Ji-Cheng, Gu, Dongqing, Sommer, Steve S.

“…Microindels, defined as mutations that result in a colocalized microinsertion and microdeletion with a net gain or loss of between 1 and 50 nucleotides, may be…”
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Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype by Hill, Kathleen A., Buettner, Victoria L., Heidt, Analeah, Chen, Lin-Ling, Li, Wenyan, Gonzalez, Kelly D., Wang, Ji-Cheng, Scaringe, William A., Sommer, Steve S.

“…Mutations are the substrate of cancer. Yet, little is known about the degree and nature of mutations in tumors because measurement of mutation load in tumors…”
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Frequency of recent retrotransposition events in the human factor IX gene by Li, Xuemin, Scaringe, William A., Hill, Kathleen A., Roberts, Stacy, Mengos, April, Careri, Diane, Pinto, Miguel Tezanos, Kasper, Carol K., Sommer, Steve S.

“…Two germline retrotransposition mutations of recent origin were observed in 727 independent mutations (0.28%) in the human factor IX gene (F9) of patients with…”
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Preferential occurrence of 1-2 microindels by Hill, Kathleen A., Gonzalez, Kelly D., Scaringe, William A., Wang, Ji-Cheng, Sommer, Steve S.

“…Microindels are unique, infrequent mutations that result in inserted and deleted sequences of different sizes (between one and 50 nucleotides) at the same…”
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Frequency of recent retrotransposition events in the human factor IX gene by Li, Xuemin, Scaringe, William A., Hill, Kathleen A., Roberts, Stacy, Mengos, April, Careri, Diane, Pinto, Miguel Tezanos, Kasper, Carol K., Sommer, Steve S.

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Discrete mobility of single-stranded DNA in non-denaturing gel electrophoresis by Liu, Q, Scaringe, W A, Sommer, S S

“…Gel electrophoresis is the standard method to separate, identify and purify nucleic acids. SSCP detects single base changes by altered mobility of…”
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Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations by Feng, Jinong, Drost, Joni B., Scaringe, William A., Liu, Qiang, Sommer, Steve S.

“…Pollutants and dietary mutagens have been associated with somatic mutation and cancer, but the extent of their influence on germline mutation is not clear…”
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Nine independent F9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline by Jaloma-Cruz, Ana Rebeca, Scaringe, William A., Drost, Joni B., Roberts, Stacy, Li, Xuemin, Barros-Núñez, Patricio, Figuera, Luis E., Rivas, Fernando, Cantú, José María, Sommer, Steve S.

“…The factor IX gene (F9) is a valuable model for studying germ‐line mutations. Nine mutations were detected in nine Mexican patients with hemophilia B by direct…”
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Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans by Drost, Joni B., Scaringe, William A., Jaloma-Cruz, Ana Rebeca, Li, Xuemin, Ossa, Diego F., Kasper, Carol K., Sommer, Steve S.

“…Two‐base substitutions at each of two nucleotides in the factor IX gene (F9), but not part of CpG dinucleotides, were recently reported in a small population…”
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