Ingram, R., Gao, C., LeBon, J., Liu, Q., Mayoral, R. J., Sommer, S. S., ...
The analysis of chromatin fine structure and transcription factor occupancy of differentially expressed genes by in vivo footprinting and ligation-mediated-PCR (LMPCR) is a powerful tool to...
Haemophilia B: database of point and short additions and deletions: eight edition (1998)
Giannelli, F., Green, P.M., Sommer, S.S., Poon, M.C., Ludwig, M., Schwaab, R., ...
Haemophilia B: database of point mutations and short additions and deletions, 7th ed (1997)
Gianelli, F., Green, P.M., Sommer, S.S., Poon, M.C., Ludwig, M., Schwaab, R., ...
Haemophilia B: database of point mutations and short additions and deletions---eighth edition (1997)
Giannelli Green, P. M. Green, S. S. Sommer, M. Ludwig, R. Schwaab, ...
The eighth edition of the haemophilia B database (http://www.umds.ac.uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base...
Haemophilia B: database of point mutations and short additions and deletions, 7th edition (1996)
F. Giannelli, P. M. Green, S. S. Sommer, M-c. Poon, M. Ludwig, R. Schwaab, ...
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30...
Antonarakis, S E, Rossiter, J P, Young, M, Horst, J, DE MOERLOOSE, P; U0022326, Sommer, S S, ...
Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093...
F. Giannelli, P. M. Green, S. S. Sommer, M. Ludwig, R. Schwaab, ...
The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30...
Giannelli, F., Green, P.M., Sommer, S.S., Lillicrap, D.P., Ludwig, M., Schwaab, R., ...
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of
Isoleucine397 is changed to threonine in two females with hemophilia B (1991)
Sarkar, G., Cassady, J.D., Pyerity, R.E., Gilchrist, G.S., Sommer, S.S.
Mutations at arginine residues in two Asian hemophilia B patients (1990)
Bottema, C.D.K., Ketterling, R.P., Koeberl, D.D., Taylor, S.A., Sommer, S.S.
Kovach, J S, Hartmann, A, Blaszyk, H, Cunningham, J, Schaid, D, Sommer, S S
Human cancer cells with a mutated p53 tumor-suppressor gene have a selective growth advantage and may exhibit resistance to ionizing radiation and certain chemotherapeutic agents. To examine the...
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.
Giannelli, F, Green, P M, Sommer, S S, Poon, M C, Ludwig, M, Schwaab, R, ...
The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of
Haemophilia B: database of point mutations and short additions and deletions, 7th edition.
Giannelli, F, Green, P M, Sommer, S S, Poon, M C, Ludwig, M, Schwaab, R, ...
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of
Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
Giannelli, F, Green, P M, Sommer, S S, Poon, M, Ludwig, M, Schwaab, R, ...
The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base...
We describe two sets of plasmid-plasmid interactions in the yeast Saccharomyces cerevisiae. [HOK], [EXL], [NEX], and [KIL-k1] are genetically defined plasmids, and M1 and L are biochemically defined...
Felmlee, T A, Liu, Q, Whelen, A C, Williams, D, Sommer, S S, Persing, D H
Detection of mutations in the rpoB gene of Mycobacterium tuberculosis can be used as an accurate predictor of rifampin resistance in the majority of strains tested. Simple but highly accurate...
Novel pattern of P53 mutation in breast cancers from Austrian women.
Hartmann, A, Rosanelli, G, Blaszyk, H, Cunningham, J M, McGovern, R M, Schroeder, J J, ...
Since mutagens produce an extraordinary diversity of mutational patterns, differential mutational exposures among populations are expected to produce different patterns of mutation. Classical...
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.
Giannelli, F, Green, P M, Sommer, S S, Lillicrap, D P, Ludwig, M, Schwaab, R, ...
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp)...
Sarkar, G, Yoon, H S, Sommer, S S
Single-strand conformation polymorphism (SSCP) is a simple method for detecting the presence of mutations in a segment of DNA, but the fraction of all mutations detected is unclear. We have evaluated...
Mutations at arginine residues in two Asian hemophilia B patients.
Bottema, C D, Ketterling, R P, Koeberl, D D, Taylor, S A, Sommer, S S
Sarkar, G, Paynton, C, Sommer, S S
Tandem dinucleotide repeats of GT or AC [(GT)n/(AC)n] where n greater than or equal to 14 are highly polymorphic and other simple repeats such as (CT)n/(AG)n and (A)n(T)n are also polymorphic. The...
Isoleucine397 is changed to threonine in two females with hemophilia B
Sarkar, G., Cassady, J.D., Pyeritz, R.E., Gilchrist, G.S., Sommer, S.S.
PRE: a novel element with the hallmarks of a retrotransposon derived from an unknown structural RNA.
Meaden, P, Hill, K, Wagner, J, Slipetz, D, Sommer, S S, Bussey, H
Yeast kre mutants define a pathway of cell wall (1----6)-beta-D-glucan synthesis, and mutants in genes KRE5 and KRE6 appear to interact early in such a pathway. We have cloned KRE5, and the sequence...
Ridley, S P, Sommer, S S, Wickner, R B
In an mktl host, L-A-HN double-stranded RNA excludes M2 double-stranded RNA at 30 degrees C but not at 20 degrees C. Recessive mutations suppressing the exclusion of M2 by L-A-HN in an mktl host...
The sizes of M1 and M2 (but not L) change rapidly with growth, varying by perhaps as much as 33%. Size variation is seen within 76 generations. In addition, the exclusion of M2 by M1 or L-A-E [(...
Ketterling, R P, Vielhaber, E, Bottema, C D, Schaid, D J, Cohen, M P, Sexauer, C L, ...
Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous...
Gostout, B, Liu, Q, Sommer, S S
Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one...
Genotype relative risks: methods for design and analysis of candidate-gene association studies.
Design and analysis methods are presented for studying the association of a candidate gene with a disease by using parental data in place of nonrelated controls. This alternative design eliminates...
Jacobson, D P, Schmeling, P, Sommer, S S
Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i)...
Ii, S, Sobell, J L, Sommer, S S
Traditionally, clinical research has sought to determine the molecular basis of clinical signs and symptoms. Increasingly, the traditional process will be reversed, as many structural protein...
Bottema, C D, Ketterling, R P, Ii, S, Yoon, H S, Phillips, J A, Sommer, S S
We report 31 point mutations in the factor IX gene and explore the relationship between the level of evolutionary conservation of an amino acid and the probability of a mutation causing hemophilia B....
Why does the human factor IX gene have a G + C content of 40%?
Bottema, C D, Bottema, M J, Ketterling, R P, Yoon, H S, Janco, R L, Phillips, J A, ...
The factor IX gene has a G + C content of approximately 40% in all mammalian species examined. In human factor IX, C----T and G----A transitions at the dinucleotide CpG are elevated at least 24-fold...
Koeberl, D D, Bottema, C D, Buerstedde, J M, Sommer, S S
We have recently described genomic amplification with transcript sequencing (GAWTS), a three-step procedure that allows direct genomic sequencing. By GAWTS more than 100,000 bp of sequence have been...
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.
Bottema, C D, Ketterling, R P, Yoon, H S, Sommer, S S
To begin documenting the pattern of germ-line mutations in different human races, we have delineated the mutation in nine Korean families with hemophilia B by direct genomic sequencing of the regions...
Koeberl, D D, Bottema, C D, Ketterling, R P, Bridge, P J, Lillicrap, D P, Sommer, S S
Spontaneous mutation provides the substrate for evolution on one hand and for genetic susceptibility to disease on the other hand. X-linked diseases such as hemophilia B offer an opportunity to...
Kovach, J S, Hartmann, A, Blaszyk, H, Cunningham, J, Schaid, D, Sommer, S S
Human cancer cells with a mutated p53 tumor-suppressor gene have a selective growth advantage and may exhibit resistance to ionizing radiation and certain chemotherapeutic agents. To examine the...
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.
Giannelli, F, Green, P M, Sommer, S S, Poon, M C, Ludwig, M, Schwaab, R, ...
The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of
Haemophilia B: database of point mutations and short additions and deletions, 7th edition.
Giannelli, F, Green, P M, Sommer, S S, Poon, M C, Ludwig, M, Schwaab, R, ...
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of
Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
Giannelli, F, Green, P M, Sommer, S S, Poon, M, Ludwig, M, Schwaab, R, ...
The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base...
We describe two sets of plasmid-plasmid interactions in the yeast Saccharomyces cerevisiae. [HOK], [EXL], [NEX], and [KIL-k1] are genetically defined plasmids, and M1 and L are biochemically defined...
Felmlee, T A, Liu, Q, Whelen, A C, Williams, D, Sommer, S S, Persing, D H
Detection of mutations in the rpoB gene of Mycobacterium tuberculosis can be used as an accurate predictor of rifampin resistance in the majority of strains tested. Simple but highly accurate...
Novel pattern of P53 mutation in breast cancers from Austrian women.
Hartmann, A, Rosanelli, G, Blaszyk, H, Cunningham, J M, McGovern, R M, Schroeder, J J, ...
Since mutagens produce an extraordinary diversity of mutational patterns, differential mutational exposures among populations are expected to produce different patterns of mutation. Classical...
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.
Giannelli, F, Green, P M, Sommer, S S, Lillicrap, D P, Ludwig, M, Schwaab, R, ...
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp)...
Sarkar, G, Yoon, H S, Sommer, S S
Single-strand conformation polymorphism (SSCP) is a simple method for detecting the presence of mutations in a segment of DNA, but the fraction of all mutations detected is unclear. We have evaluated...
Mutations at arginine residues in two Asian hemophilia B patients.
Bottema, C D, Ketterling, R P, Koeberl, D D, Taylor, S A, Sommer, S S
Sarkar, G, Paynton, C, Sommer, S S
Tandem dinucleotide repeats of GT or AC [(GT)n/(AC)n] where n greater than or equal to 14 are highly polymorphic and other simple repeats such as (CT)n/(AG)n and (A)n(T)n are also polymorphic. The...
Isoleucine397 is changed to threonine in two females with hemophilia B
Sarkar, G., Cassady, J.D., Pyeritz, R.E., Gilchrist, G.S., Sommer, S.S.
PRE: a novel element with the hallmarks of a retrotransposon derived from an unknown structural RNA.
Meaden, P, Hill, K, Wagner, J, Slipetz, D, Sommer, S S, Bussey, H
Yeast kre mutants define a pathway of cell wall (1----6)-beta-D-glucan synthesis, and mutants in genes KRE5 and KRE6 appear to interact early in such a pathway. We have cloned KRE5, and the sequence...
Ridley, S P, Sommer, S S, Wickner, R B
In an mktl host, L-A-HN double-stranded RNA excludes M2 double-stranded RNA at 30 degrees C but not at 20 degrees C. Recessive mutations suppressing the exclusion of M2 by L-A-HN in an mktl host...
The sizes of M1 and M2 (but not L) change rapidly with growth, varying by perhaps as much as 33%. Size variation is seen within 76 generations. In addition, the exclusion of M2 by M1 or L-A-E [(...
Ketterling, R P, Vielhaber, E, Bottema, C D, Schaid, D J, Cohen, M P, Sexauer, C L, ...
Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous...
Gostout, B, Liu, Q, Sommer, S S
Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one...
Genotype relative risks: methods for design and analysis of candidate-gene association studies.
Design and analysis methods are presented for studying the association of a candidate gene with a disease by using parental data in place of nonrelated controls. This alternative design eliminates...
Jacobson, D P, Schmeling, P, Sommer, S S
Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i)...
Ii, S, Sobell, J L, Sommer, S S
Traditionally, clinical research has sought to determine the molecular basis of clinical signs and symptoms. Increasingly, the traditional process will be reversed, as many structural protein...
Bottema, C D, Ketterling, R P, Ii, S, Yoon, H S, Phillips, J A, Sommer, S S
We report 31 point mutations in the factor IX gene and explore the relationship between the level of evolutionary conservation of an amino acid and the probability of a mutation causing hemophilia B....
Why does the human factor IX gene have a G + C content of 40%?
Bottema, C D, Bottema, M J, Ketterling, R P, Yoon, H S, Janco, R L, Phillips, J A, ...
The factor IX gene has a G + C content of approximately 40% in all mammalian species examined. In human factor IX, C----T and G----A transitions at the dinucleotide CpG are elevated at least 24-fold...
Koeberl, D D, Bottema, C D, Buerstedde, J M, Sommer, S S
We have recently described genomic amplification with transcript sequencing (GAWTS), a three-step procedure that allows direct genomic sequencing. By GAWTS more than 100,000 bp of sequence have been...
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.
Bottema, C D, Ketterling, R P, Yoon, H S, Sommer, S S
To begin documenting the pattern of germ-line mutations in different human races, we have delineated the mutation in nine Korean families with hemophilia B by direct genomic sequencing of the regions...
Koeberl, D D, Bottema, C D, Ketterling, R P, Bridge, P J, Lillicrap, D P, Sommer, S S
Spontaneous mutation provides the substrate for evolution on one hand and for genetic susceptibility to disease on the other hand. X-linked diseases such as hemophilia B offer an opportunity to...
The rates and patterns of deletions in the human factor IX gene.
Ketterling, R. P., Vielhaber, E. L., Lind, T. J., Thorland, E. C., Sommer, S. S.
Deletions are commonly observed in genes with either segments of highly homologous sequences or excessive gene length. However, in the factor IX gene and in most genes, deletions (of > or = 21 bp)...
The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.
Ketterling, R. P., Vielhaber, E., Sommer, S. S.
We have identified eight independent transversions at CpG in 290 consecutive families with hemophilia B. These eight transversions account for 16.3% of all independent transversions in our sample,...
Comparison of statistics for candidate-gene association studies using cases and parents.
Studies of association between candidate genes and disease can be designed to use cases with disease, and in place of nonrelated controls, their parents. The advantage of this design is the...
PAP-LMPCR for improved, allele-specific footprinting and automated chromatin fine structure analysis
Ingram, R., Gao, C., LeBon, J., Liu, Q., Mayoral, R. J., Sommer, S. S., ...
The analysis of chromatin fine structure and transcription factor occupancy of differentially expressed genes by in vivo footprinting and ligation-mediated-PCR (LMPCR) is a powerful tool to...
Hartmann, A., Blaszyk, H., Saitoh, S., Tsushima, K., Tamura, Y., Cunningham, J. M., ...
The pattern of acquired mutations in the p53 tumour-suppressor gene is potentially useful for determining factors contributing to carcinogenesis in diverse populations differing in incidence and/or...