DOI: 10.1126/science.1200587. Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

10.1126/science.1200587

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

Minor RNA splicing defects can cause a major human developmental disorder.

Bibliography

He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., Alder, H., Haan, E., Wieczorek, D., Albrecht, B., Puffenberger, E., Wang, H., Westman, J. A., â¦ de la Chapelle, A. (2011). Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I. Science, 332(6026), 238â240.

Authors 22

Huiling He (first)
Sandya Liyanarachchi (additional)
Keiko Akagi (additional)
Rebecca Nagy (additional)
Jingfeng Li (additional)
Rosemary C. Dietrich (additional)
Wei Li (additional)
Nikhil Sebastian (additional)
Bernard Wen (additional)
Baozhong Xin (additional)
Jarnail Singh (additional)
Pearlly Yan (additional)
Hansjuerg Alder (additional)
Eric Haan (additional)
Dagmar Wieczorek (additional)
Beate Albrecht (additional)
Erik Puffenberger (additional)
Heng Wang (additional)
Judith A. Westman (additional)
Richard A. Padgett (additional)
David E. Symer (additional)
Albert de la Chapelle (additional)

References 23 Referenced 221

10.1126/science.271.5256.1716
10.1126/science.273.5283.1824
10.1016/S0092-8674(00)80479-1
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10.1148/89.2.275
Majewski F., Spranger J., [A new (brachymelic) type of primordial dwarfism (author’s transl.)]. Monatsschr. Kinderheilkd. 124, 499 (1976).934161 / Monatsschr. Kinderheilkd. / [A new (brachymelic) type of primordial dwarfism (author’s transl.)] by Majewski F. (1976)
10.1002/ajmg.1320120105
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Dates

Type	When
Created	14 years, 4 months ago (April 8, 2011, 1:53 a.m.)
Deposited	1 year, 7 months ago (Jan. 10, 2024, 10:44 a.m.)
Indexed	3 days, 4 hours ago (Aug. 19, 2025, 6:24 a.m.)
Issued	14 years, 4 months ago (April 8, 2011)
Published	14 years, 4 months ago (April 8, 2011)
Published Print	14 years, 4 months ago (April 8, 2011)

Funders 2

National Cancer Institute 10.13039/100000054
Region: Americas
gov (National government)
Labels4
1. Instituto Nacional del Cáncer
2. National Cancer Institute at the National Institutes of Health
3. Instituto Nacional del Cáncer de los Institutos Nacionales de la Salud
4. NCI
Awards1
1. P30 CA16058
National Institutes of Health 10.13039/100000002
Region: Americas
gov (National government)
Labels3
1. Institutos Nacionales de la Salud
2. US National Institutes of Health
3. NIH
Awards2
1. GM093074
2. GM079527

BibTeX

@article{He_2011, title={Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I}, volume={332}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1200587}, DOI={10.1126/science.1200587}, number={6026}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={He, Huiling and Liyanarachchi, Sandya and Akagi, Keiko and Nagy, Rebecca and Li, Jingfeng and Dietrich, Rosemary C. and Li, Wei and Sebastian, Nikhil and Wen, Bernard and Xin, Baozhong and Singh, Jarnail and Yan, Pearlly and Alder, Hansjuerg and Haan, Eric and Wieczorek, Dagmar and Albrecht, Beate and Puffenberger, Erik and Wang, Heng and Westman, Judith A. and Padgett, Richard A. and Symer, David E. and de la Chapelle, Albert}, year={2011}, month=apr, pages={238–240} }

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