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3. Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Author

van Slegtenhorst, Marjon, de Hoogt, Ronald, Hermans, Caroline, Nellist, Mark, Janssen, Bart, Verhoef, Senno, Lindhout, Dick, Van den Ouweland, Ans, Halley, Dicky, Young, Janet, Burley, Mariwyn, Jeremiah, Steve, Woodward, Karen, Nahmias, Joseph, Fox, Margaret, Ekong, Rosemary, Osborne, John, Wolfe, Jonathan, Povey, Sue, Snell, Russell G., Cheadle, Jeremy P., Jones, Alistair C., Tachataki, Maria, Ravine, Dave, Sampson, Julian R., Reeve, Mary Pat, Richardson, Paul, Wilmer, Frierderike, Munro, Cheryl, Hawkins, Trevor L., Sepp, Tiina, Ward, Susannah, Green, Andrew J., Kwiatkowska, Jolanta, Short, M. Priscilla, Haines, Jonathan H., Jozwiak, Sergiusz, and Kwiatkowski, David J.

Published
1997

4. Characterisation of the TSC1 candidate region on human chromosome 9q34

Author

Woodward, Karen Jane

Subjects
572.8, Tuberous sclerosis
Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder with clinical symptoms ranging from minor skin lesions to more serious manifestations such as mental retardation and seizures. Linkage analysis established heterogeneity and assigned genes to 9q34 (TSC1) and 16p13.3 (TSC2). Detection of TSC-associated deletions on 16p13.3 refined the localisation of the gene and TSC2 has now been identified. Meiotic recombination events in TSC families have defined a consensus candidate region for TSC1 between D9S149 and D9S114, but further refinement gives conflicting positions for the gene. A positional cloning strategy has been applied to characterise the TSC 1 candidate region and identify the gene. Radiation hybrids retaining markers from the target interval were characterised and used as a resource for region specific DNA. The clones isolated plus ones from other sources were confirmed to map to 9q34 by FISH. Localisations were refined by using three lymphoblastoid cell lines with translocations breakpoints within 9q34, thereby subdividing the band into 4 intervals. A total of 32 loci from 28 contigs, and 43 anonymous contigs were mapped enabling a FISH map to be constructed. Cosmids mapping to the TSC1 candidate region were subsequently screened for transcribed sequences by exon amplification. The initial study led to the identification VAV2, a good candidate for TSC1. It was followed by more extensive analysis of 6 contigs mapping to the same FISH interval as D9S149 and D9S114. A total of 171 putative exons were cloned, 48 potentially different products were sequenced and 34 were inferred to be authentic exons. A subset from 4 contigs were confirmed to be conserved sequences by cross-species hybridisation and cDNA clones were isolated and partially characterised. The exons and cDNAs isolated are important resources for construction of a 9q34 transcription map and may facilitate identification of the TSC1 gene.

Published
1995

10. Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

Author

Brereton, Rebecca E., primary, Nickerson, Sarah L., additional, Woodward, Karen J., additional, Edwards, Tracey, additional, Sivamoorthy, Soruba, additional, Ramos Vasques Walters, Fabiana, additional, Chabros, Vicki, additional, Marchin, Vanessa, additional, Grumball, Tanya, additional, Kennedy, Dagmara, additional, Uzaraga, Joan, additional, Peverall, Joanne, additional, Arscott, Gillian, additional, Beilby, John, additional, Choong, Catherine S., additional, Townshend, Sharron, additional, and Azmanov, Dimitar N., additional

Published
2021
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11. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Author

Singh, Ram, primary, Cohen, Ana S.A., additional, Poulton, Cathryn, additional, Hjortshøj, Tina Duelund, additional, Akahira-Azuma, Moe, additional, Mendiratta, Geetu, additional, Khan, Wahab A., additional, Azmanov, Dimitar N., additional, Woodward, Karen J., additional, Kirchhoff, Maria, additional, Shi, Lisong, additional, Edelmann, Lisa, additional, Baynam, Gareth, additional, Scott, Stuart A., additional, and Jabs, Ethylin Wang, additional

Published
2021
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13. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

Author

Woodward, Karen J., Cundall, Maria, Sperle, Karen, Sistermans, Erik A., Ross, Mark, Howell, Gareth, Gribble, Susan M., Burford, Deborah C., Carter, Nigel P., Hobson, Donald L., Garbern, James Y., Kamholz, John, Heng, Henry, Hodes, M.E., Malcolm, Sue, and Hobson, Grace M.

Subjects
Nervous system diseases -- Research, Nervous system diseases -- Diagnosis, Human genetics -- Research, Biological sciences
Published
2005

14. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

Author

Woods, Kathryn S., Cundall, Maria, Crace, Jim, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W.K., Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Juan-Pedro, Thomas, Paul Q., Robinson, Iain C., Lovell-Badge, Robin, Woodward, Karen J., and Dattani, Mehul T.

Subjects
Human genetics -- Research, Hypopituitarism -- Research, Hypopituitarism -- Genetic aspects, Pituitary gland -- Research, Pituitary gland -- Genetic aspects, Biological sciences
Published
2005

17. MOESM1 of Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Author

Bahrambeigi, Vahid, Xiaofei Song, Sperle, Karen, Beck, Christine, Hijazi, Hadia, Grochowski, Christopher, Gu, Shen, Seeman, Pavel, Woodward, Karen, Carvalho, Claudia, Hobson, Grace, and Lupski, James

Subjects
congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Additional file 1: Figure S1. (S1-1 to S1-6). aCGH and breakpoint junction sequencing results for 30 of the 33 PMD individuals with single duplications at the PLP1 locus. Figure S2. Breakpoint junction sequencing in subject BAB8949 with a single duplication revealed insertions with multiple join-points at the breakpoint junction. Figure S3. Replication errors at the breakpoint junction and/or flanking regions in BAB8929. Figure S4. The aCGH result for BAB8921 showed a 666 Kb single duplication at the PLP1 locus. Figure S5. The distal breakpoint junction points of genomic rearrangements in 28 PMD subjects are grouped within the LCR distal of PLP1. Figure S6. (S6-1 to S6-4). Breakpoint junction analysis indicates that three patients have a directly oriented DUP-NML-DUP pattern of rearrangement. Figure S7. (S7-1 and S7-2). Breakpoint junction analysis indicates that two patients have a DUP–NML–INV/DUP pattern of rearrangement. Figure S8. Three possible rearrangements for the generation of DUP–NML–INV/DUP structures satisfy the breakpoint junctions that we obtained on patients BAB8920 and BAB8934. Figure S9. Three individuals with a DUP-NML-DUP pattern on aCGH (BAB8940, BAB8955, and BAB8960) have the distal duplication and copy neutral region between the two duplications mapping within IRs LCRA1a to LCRA1b. Figure S10. (S10-1 to S10-3). CGRs with DUP-TRP-DUP pattern of rearrangement on aCGH. Figure S11. The most complex rearrangement in this study, DUP-TRP-QUAD, was observed in individual BAB8937. Figure S12. (S12-1 and S12-2). Samples with DUP-NML-DUP-NML-DUP pattern of rearrangement (based on aCGH). Figure S13. One individual, BAB8931, exhibited DUP-NML-DEL pattern of rearrangement. Figure S14. The sequence similarity comparison of reference sequences surrounding join-points. Figure S15. Similarity comparisons of reference sequences surrounding join-points were done after re-analyzing of break-point junction sequences by a retrospective study.

Published
2019
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18. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH

Author

Woodward, Karen, Kendall, Elaine, Vetrie, David, and Malcolm, Sue

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Demyelination -- Genetic aspects, Biological sciences
Abstract

Duplications of the proteolipid protein (PLP) gene have been found in a fraction of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause Pelizaeus-Merzbacher disease (PMD). Duplications are a major cause of PMD and for that reason it has been suggested that interphase fluorescence in situ hybridization (FISH) would be a good method for diagnosis and identification of female carriers. The extent of the duplication was analyzed in five paients with four asymptomatic carrier mothers. PMD is an X-linked dysmyelinating central nervous system (CNS) disorder, and Xq22 proteolipid-protein duplications have been identified.

Published
1998

20. Heterogeneity of NH4(super +) transport in mouse inner medullary collecting duct cells

Author

Wall, Susan M., Trinh, Hoang N., and Woodward, Karen E.

Subjects
Potassium -- Physiological aspects, Biological transport -- Analysis, Ammonium -- Physiological aspects, Biological sciences
Abstract

Na+ -K+ -2Cl cotransporter regulates proportional transport of K+ and NH4+, which are potent inhibitors of the extracellular K+ binding site. The cotransporter is present on basolateral membrane of the inner medullary collecting duct (IMCD) and the rate of NH4+ transport depends upon the interstitial levels of K+ and NH4+. In analyzing NH4+ transport, Rb+ is used as K+ congener. Infusion of K+ and NH4+ decreases bumetanide- and ouabain-susceptible Rb+ uptake.

Published
1995

23. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Author

Woodward, Karen J., primary, Stampalia, Julie, additional, Vanyai, Hannah, additional, Rijhumal, Hashika, additional, Potts, Kim, additional, Taylor, Fiona, additional, Peverall, Joanne, additional, Grumball, Tanya, additional, Sivamoorthy, Soruba, additional, Alinejad-Rokny, Hamid, additional, Wray, John, additional, Whitehouse, Andrew, additional, Nagarajan, Lakshmi, additional, Scurlock, Jacqueline, additional, Afchani, Sabine, additional, Edwards, Matthew, additional, Murch, Ashleigh, additional, Beilby, John, additional, Baynam, Gareth, additional, Kiraly-Borri, Cathy, additional, McKenzie, Fiona, additional, and Heng, Julian I. T., additional

Published
2019
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24. Take me to Peachtree Street - pronto

Author

Woodward, Karen

Subjects
Telecommunications services industry, SUPERCOMM -- 1990 AD, Telecommunications services industry -- Conferences, meetings and seminars, Communications industry -- Conferences, meetings and seminars, Atlanta, Georgia -- Conferences, meetings and seminars
Abstract

Take me to Peachtree Street--Pronto It's going to cost you $180.12 each day that you are in Atlanta for SUPERCOMM, if you believe the Corporate Travel Index (1989). And that's […]

Published
1990

25. A review of structural brain abnormalities in Pallister-Killian syndrome

Author

Poulton, Cathryn, primary, Baynam, Gareth, additional, Yates, Clarissa, additional, Alinejad-Rokny, Hamid, additional, Williams, Simon, additional, Wright, Helen, additional, Woodward, Karen J., additional, Sivamoorthy, Soruba, additional, Peverall, Joanne, additional, Shipman, Peter, additional, Ravine, David, additional, Beilby, John, additional, and Heng, Julian Ik-Tsen, additional

Published
2017
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27. Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

Author

Hodes, M. E., Woodward, Karen, Spinner, Nancy B., Emanuel, Beverly S., Enrico-Simon, Agnes, Kamholz, John, Stambolian, Dwight, Zackai, Elaine H., Pratt, Victoria M., Thomas, I. T., Crandall, Kerry, Dlouhy, Stephen R., and Malcolm, Sue

Subjects
Proteolipids -- Research, Genetic disorders -- Causes of, Chromosome abnormalities -- Research, Biological sciences
Published
2000

28. Pacific Telesis

Author

Woodward, Karen

Subjects
Company marketing practices, Telecommunications services industry, AT&T Inc. -- Marketing, AT&T California -- Marketing, Nevada Bell -- Marketing, Regional Bell Operating Companies -- Marketing, Telecommunications services industry -- Marketing, Communications industry -- Marketing
Abstract

In one of Pacific Bell's many releases touting the benefits if its voice mail service, Lee Camp, vice president of the company's information services group, says all there is to […]

Published
1993

29. Forecasters try to keep industry on the right track

Author

Woodward, Karen

Subjects
Telecommunications services industry, Telecommunications services industry -- Conferences, meetings and seminars, Communications industry -- Conferences, meetings and seminars
Abstract

The National Telecommunications Forecasting Conference in June will analyze how telecom providers can stay ahead in this increasingly competitive business This quote sums up the dilemma telecommunications forecasters face each […]

Published
1993

30. A review of structural brain abnormalities in Pallister‐Killian syndrome.

Author

Poulton, Cathryn, Baynam, Gareth, Yates, Clarissa, Alinejad‐Rokny, Hamid, Williams, Simon, Wright, Helen, Woodward, Karen J., Sivamoorthy, Soruba, Peverall, Joanne, Shipman, Peter, Ravine, David, Beilby, John, and Heng, Julian Ik‐Tsen

Subjects
BRAIN abnormalities, MOSAICISM, CEREBRAL atrophy, CORPUS callosum abnormalities, CHROMOSOMES
Abstract

Abstract: Background: Pallister‐Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. Methods: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS. Results: We reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region‐specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS. Conclusion: Our study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder. [ABSTRACT FROM AUTHOR]

Published
2018
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36. USTA is goin' to Kansas City

Author

Woodward, Karen

Subjects
Telephone, Business, Telecommunications industry, United States Telephone Association
Published
1984

37. Feets don't fail me now!

Author

Woodward, Karen

Subjects
Telecommunications services industry, Fiber optics, New technique, Telephone system, Microcomputer industry, Computer industry, SUPERCOMM -- 1989 AD, Data communications -- 1989 AD, Telephone systems -- Product introduction -- Exhibitions, Telecommunications services industry -- Exhibitions -- Product introduction, New products -- 1989 AD, Fiber optics -- 1989 AD, Computer industry -- Exhibitions -- Product introduction, Communications industry -- Exhibitions -- Product introduction
Abstract

Feets don't fail me now! Don't worry. Be happy. It's here! Beginning today and continuing through Thursday, Walt Disney's Magic Kingdom will take a back seat to the high-tech wizardry […]

Published
1989

38. Bringing the cyber war to the medical device battleground

Author

Woodward, Karen and Buckley, Mary Beth

Subjects
Data security -- Laws, regulations and rules, Medical equipment -- Safety and security measures, Government regulation, Data security issue, Law
Abstract

With rapid advances in medical technology, including an increasing number of wireless, Internet- and network-connected, interoperable medical devices, the Food and Drug Administration (FDA) has strongly encouraged all stakeholders, and [...]

Published
2015

45. Reinforcing the association between distal 1qCNVs and structural brain disorder: A case of a complex 1q43‐q44CNV and a review of the literature

Author

Hemming, Isabel A., Forrest, Alistair R. R., Shipman, Peter, Woodward, Karen J., Walsh, Peter, Ravine, David G., and Heng, Julian Ik‐Tsen

Abstract

Copy Number Variations (CNVs) comprising the distal 1qregion 1q43‐q44are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43‐q44deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43‐q44CNV ever to be described. Our data support an association between 1q43‐q44deletions and microcephaly, as well as an association between 1q43‐q44duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43‐q44regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145–156; Nagamani et al., 2012; Eur J Hum Genet 20:176–179]. Taken together, our study reinforces the association between 1q43‐q44CNVs and brain disorder. © 2016 Wiley Periodicals, Inc.

Published
2016
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48. Interactions of soluble penicillin-binding protein 2a of methicillin-resistant Staphylococcus aureus with moenomycin

Author

Graves-Woodward, Karen and Pratt, R.F.

Subjects
Carrier proteins -- Research, Methicillin -- Research, Drug resistance in microorganisms -- Research, Staphylococcus aureus -- Research, Biological sciences, Chemistry
Abstract

Research was conducted to examine the interactions between moenomycin and solubilized penicillin-binding protein 2a (sPBP2a) of methicillin-resistant Staphylococcus aureus. The experiment also served as a general model study of interactions between a solubilized PBP and a membrane-directed ligand. Results provide further evidence that sPBP2a has little general affinity in the absence of its N-terminal peptide for lipid surfaces.

Published
1999

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