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546 results on '"Macintosh, R"'

74. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

Author

Palmer, EE, Jarrett, KE, Sachdev, RK, Zahrani, FA, Hashem, MO, Ibrahim, N, Sampaio, H, Kandula, T, Macintosh, R, Gupta, R, Conlon, DM, Billheimer, JT, Rader, DJ, Funato, K, Walkey, CJ, Lee, CS, Loo, C, Brammah, S, Elakis, G, Zhu, Y, Buckley, M, Kirk, EP, Bye, A, Alkuraya, FS, Roscioli, T, Lagor, WR, Palmer, EE, Jarrett, KE, Sachdev, RK, Zahrani, FA, Hashem, MO, Ibrahim, N, Sampaio, H, Kandula, T, Macintosh, R, Gupta, R, Conlon, DM, Billheimer, JT, Rader, DJ, Funato, K, Walkey, CJ, Lee, CS, Loo, C, Brammah, S, Elakis, G, Zhu, Y, Buckley, M, Kirk, EP, Bye, A, Alkuraya, FS, Roscioli, T, and Lagor, WR

Abstract

We report an individual who presented with severe neurodevelopmental delay and an intractable infantile-onset seizure disorder. Exome sequencing identified a homozygous single nucleotide change that abolishes a splice donor site in the ARV1 gene (c.294+1G > A homozygous). This variant completely prevented splicing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in primary human fibroblasts (NP_073623.1: p.(Lys59_Asn98del). The p.(Lys59_Asn98del) and previously reported p.(Gly189Arg) ARV1 variants were evaluated for protein expression and function. The p.(Gly189Arg) variant partially rescued the temperature-dependent growth defect in arv1Δ yeast, while p.(Lys59- Asn98del) completely failed to rescue at restrictive temperature. In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy.

Published
2016

75. Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

Author

Palmer, EE, Hayner, J, Sachdev, R, Cardamone, M, Kandula, T, Morris, P, Dias, KR, Tao, J, Miller, D, Zhu, Y, Macintosh, R, Dinger, ME, Cowley, MJ, Buckley, MF, Roscioli, T, Bye, A, Kilberg, MS, Kirk, EP, Palmer, EE, Hayner, J, Sachdev, R, Cardamone, M, Kandula, T, Morris, P, Dias, KR, Tao, J, Miller, D, Zhu, Y, Macintosh, R, Dinger, ME, Cowley, MJ, Buckley, MF, Roscioli, T, Bye, A, Kilberg, MS, and Kirk, EP

Abstract

Asparagine Synthetase Deficiency is a recently described cause of profound intellectual disability, marked progressive cerebral atrophy and variable seizure disorder. To date there has been limited functional data explaining the underlying pathophysiology. We report a new case with compound heterozygous mutations in the ASNS gene (NM_183356.3:c. [866G. >. C]; [1010C. >. T]). Both variants alter evolutionarily conserved amino acids and were predicted to be pathogenic based on in silico protein modelling that suggests disruption of the critical ATP binding site of the ASNS enzyme.In patient fibroblasts, ASNS expression as well as protein and mRNA stability are not affected by these variants. However, there is markedly reduced proliferation of patient fibroblasts when cultured in asparagine-limited growth medium, compared to parental and wild type fibroblasts. Restricting asparagine replicates the physiology within the blood-brain-barrier, with limited transfer of dietary derived asparagine, resulting in reliance of neuronal cells on intracellular asparagine synthesis by the ASNS enzyme. These functional studies offer insight into the underlying pathophysiology of the dramatic progressive cerebral atrophy associated with Asparagine Synthetase Deficiency.

Published
2015

77. Confirming a sale with a phone call

Author

MACINTOSH, R. SCOTT

Subjects
Business, Business, regional
Abstract

One big perk about being a verifier at a telemarketing company is there are seldom any hang-ups. The people verifiers call are friendlier. Sometimes there may even be a laugh. [...]

Published
2001

78. Striking it rich with stock options? Beware the tax pitfalls

Author

MACINTOSH, R. SCOTT

Subjects
Business, Business, regional
Abstract

In today's up-and-down financial market, employment compensation packages are more complex than just buying and selling shares of stock. Accountants and financial planners stress the importance of understanding just how [...]

Published
2001

79. Exploring the impacts and processes of identity change

Author

McInnes, P., Beech, N., and MacIntosh, R.

Subjects
JA, HB
Abstract

Public sector organizations are being subjected to unprecedented change and scrutiny. Structures, processes, roles, remits and performance levels are being reviewed in settings where greater transparency is required and greater accountability is being demanded. A range of changes, including shifts in organisational structures, changing relationships with service users and politics at local and international levels are all impacting simultaneously on life within the organisations and on the service that is provided.\ud \ud In attempting to understand the dynamics of these changes, one key area of research concerns the role of identity at both an individual and collective level. Within public sector organisations, identities can be constructed, and realised, through a variety of modes – the individual, the group, the profession, the interest group and the hierarchical group amongst others. The manner in which these identities are formed, and the way that different identities interact, can have a dramatic impact on the organisation, employees and service-users. This is particularly significant where there is a need to work across organisational boundaries and through new organisational processes. These circumstances introduce a range of identity-related issues concerning the individual or group’s place in the organisation and their relation to others. Such issues include: how leadership might be conducted, how communities might be engaged, what the impact of macro discourses might be, and how workers at the operational level can maintain an ethical sense of agency.

Published
2008

81. Health in organization: toward a process-based view

Author

MacIntosh, R., MacLean, D., and Burns, H.

Subjects
H1, HD28
Abstract

This paper reports on a collaborative project involving organization scholars and clinicians to examine the ways in which individual and organizational health are conceptualized in the literature. We illustrate how the use of systems theories (in this case complexity theory) in relation to organizational health introduces problems such as the risk of promoting organizational health at the expense of individual well-being. The phenomena of organizational health and individual health are often presented as having a symbiotic relationship and we suggest some circumstances where this is not the case. Our central argument is that we need to move beyond current conceptual limitations and move toward a more process-based model of health in organization rather than organizational health.

Published
2007

84. Unpacking the effectivity paradox of strategy workshops: do strategy workshops produce strategic change?

Author

Golsorkhi, D, Rouleau, L, Seidl, D, Vaara, E, Golsorkhi, D ( D ), Rouleau, L ( L ), Seidl, D ( D ), Vaara, E ( E ), MacIntosh, R, MacLean, D, Seidl, D; https://orcid.org/0000-0002-0368-196X, Golsorkhi, D, Rouleau, L, Seidl, D, Vaara, E, Golsorkhi, D ( D ), Rouleau, L ( L ), Seidl, D ( D ), Vaara, E ( E ), MacIntosh, R, MacLean, D, and Seidl, D; https://orcid.org/0000-0002-0368-196X

Published
2010

85. History served up at the Peninsula

Author

Macintosh, R. Scott

Subjects
Hongkong and Shanghai Hotels Ltd. Peninsula Group -- Management, Hotels and motels -- Management, Hotels and motels -- China, Hotels and motels -- Hong Kong, Company business management, Business, Travel industry
Abstract

HONG KONG -- On a recent hosted visit, a representative from the Peninsula Hong Kong was supposed to meet me at the airport. 'Signs are not allowed,' I was told [...]

Published
2003

86. Western travel trends up

Author

Macintosh, R. Scott

Subjects
Travel -- Analysis, Travel -- Economic aspects, Travel -- United States, Business, Travel industry
Abstract

Western travelers top the nation in the number of trips they take, how much they spend on travel, their use of travel agents and their economic outlooks for the year [...]

Published
2003

87. A global giant awakens

Author

Macintosh, R. Scott

Subjects
Business, Travel industry
Abstract

China's symbol for tourism is taken from a famous Hans Dynasty sculpture of a galloping horse overtaking a flying sparrow. The emblem, used by the China National Tourist Office, is [...]

Published
2003

88. Major changes set for airports in west

Author

Macintosh, R. Scott

Subjects
Business, Travel industry
Abstract

Major Western airports are expected to spend more than $22 billion in coming years on construction projects that are among the most ambitious in the country. With six of the [...]

Published
2003

89. JetBlue action prompts suits, federal inquiry

Author

Macintosh, R. Scott

Subjects
United States. Transportation Security Administration -- Powers and duties, JetBlue Airways Corp. -- Cases, JetBlue Airways Corp. -- Investigations, JetBlue Airways Corp. -- Records and correspondence, Acxiom Corp. -- Investigations, Computer services industry -- Investigations, Antiterrorism measures -- Social aspects, Antiterrorism measures -- Cases, Airline passengers -- Civil rights, Airline passengers -- Cases, Privacy, Right of -- Cases, Airlines -- Cases, Airlines -- Investigations, Airlines -- Records and correspondence, Company legal issue, Computer services industry, Business, Travel industry, American Civil Liberties Union -- Cases, Electronic Privacy Information Center -- Cases
Abstract

The use of jetBlue passenger information for a government project has sparked a federal inquiry, class-action lawsuits and widespread outrage over what civil rights groups are calling a grave violation [...]

Published
2003

90. Far&Wide filing rocks industry

Author

Jennings, Lisa and Macintosh, R. Scott

Subjects
Far and Wide Travel Corp. -- Finance, Travel industry -- Finance, Company financing, Business, Travel industry
Abstract

Far&Wide Travel Corp.'s bankruptcy filing last week marked the largest failure of a tour operator in recent history and sent ripples across the nation's tourism industry. Many questions remained unanswered [...]

Published
2003

91. JetBlue lets defense project use PNR data

Author

Macintosh, R. Scott

Subjects
JetBlue Airways Corp. -- Safety and security measures, Airlines -- Safety and security measures, Business, Travel industry
Abstract

Personal information from 5 million jetBlue passengers was released to the Department of Defense late last year as part of an agency project to develop data-mining technology. A jetBlue spokesman [...]

Published
2003

92. GDS pressure rises

Author

Erickson, Judy and Macintosh, R. Scott

Subjects
Reservation systems -- Laws, regulations and rules, Travel agents -- Laws, regulations and rules, Government regulation, Business, Travel industry, American Society of Travel Agents
Abstract

Final revisions to the regulations governing global distribution systems could be ready for federal approval as early as next month, spurring the American Society of Travel Agents and other industry [...]

Published
2003

93. Air charters gain business

Author

Macintosh, R. Scott

Subjects
Charter airlines -- Finance, Charter airlines -- Statistics, Business, Travel industry
Abstract

Once reserved for the elite, private-jet usage has surged since Sept. 11, with more travelers seeking convenient alternatives to the time-consuming security procedures of commercial aviation. 'Just weeks after the [...]

Published
2003

94. West states add tour taxes

Author

Macintosh, R. Scott

Subjects
Business, Travel industry
Abstract

Three Western states have targeted travelers as a source of much-needed revenue, adding new taxes to the price of hotel rooms and rental cars. Montana already has started collecting the [...]

Published
2003

95. DOJ flags airline deal

Author

Macintosh, R. Scott and Erickson, Judi

Subjects
Deutsche Lufthansa AG -- Cases, Airlines -- Cases, Company legal issue, Business, Travel industry
Abstract

The Department of Justice has found the proposed settlement with Lufthansa Airlines in agents' landmark suit against the major carriers raises 'serious concerns under antitrust laws.' In a letter filed [...]

Published
2003

96. West guards tourist funds: despite deficits, states keep promotion budgets for 2003-04

Author

Macintosh, R. Scott

Subjects
State budgets -- Finance, Travel industry -- Political aspects, Company financing, Business, Travel industry
Abstract

Funding for state tourism departments in the Western U.S. is holding steady for the current fiscal year, even as many legislatures deal with significant budget deficits that will strain spending. [...]

Published
2003

98. Specialization, a growing trend: agents are finding success in today's turbulent travel industry by adding more value and expertise

Author

Jennings, Lisa and Macintosh, R. Scott

Subjects
Travel agents -- Services, Travel industry -- Forecasts and trends, Travel industry -- Demographic aspects, Market trend/market analysis, Business, Travel industry
Abstract

Maureen Jones, president of All Horizons Travel, doesn't bill herself as an agent who can sell any vacation to any destination to any kind of traveler. But for clients looking [...]

Published
2003

99. Techno bliss: the 'Room of the Future' is a hi-tech beehive. (Technology)

Author

Macintosh, R. Scott

Subjects
Hilton Worldwide -- Product introduction, Hotels and motels -- Product introduction, Hotels and motels -- United States, Company service introduction, Business, Travel industry
Abstract

For those wondering what the hotel room of the future might be like, Room 267 at the Hilton Garden Inn near the Los Angeles International Airport has some answers. The [...]

Published
2003

100. Turbulent times spell change: rapid evolution in travel industry reflected in education

Author

Macintosh, R. Scott

Subjects
Travel industry -- Analysis, Travel agents -- Conferences, meetings and seminars, Business, Travel industry
Abstract

When the Center for Travel Marketing at Los Medanos College recently held a seminar on how to succeed in today's travel industry, center director Kiran Kamath decided it should start [...]

Published
2003

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