PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly

Author:

Mzoughi Slim12ORCID,Di Tullio Federico1ORCID,Low Diana H. P.1ORCID,Motofeanu Corina-Mihaela1,Ong Sheena L. M.3ORCID,Wollmann Heike1,Wun Cheng Mun1,Kruszka Paul4,Muenke Maximilian4ORCID,Hildebrandt Friedhelm5,Dunn N. Ray3ORCID,Messerschmidt Daniel M.1,Guccione Ernesto1267ORCID

Affiliation:

1. Institute of Molecular and Cell Biology, Agency for Science, Technology and Research (A*STAR), Singapore.

2. Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

3. Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore.

4. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

5. Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

6. Department of Oncological Sciences and Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

7. Department of Pharmacological Sciences and Mount Sinai Center for Therapeutics Discovery, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Abstract

The transcriptional regulator PRDM15 orchestrates NOTCH and WNT/PCP signaling to ensure normal mammalian development.

Funder

NMRC

NRF Singapore

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference40 articles.

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2. Global burden of neural tube defects, risk factors, and prevention;Flores A. L.;Indian J Community Health,2014

3. Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis

4. B. D. Solomon A. Gropman M. Muenke Holoprosencephaly overview in GeneReviews(R) M. P. Adam R. A. Pagon H. H. Ardinger T. D. Bird C. R. Dolan C. T. Fong Eds. (University of Washington 1993).

5. The molecular genetics of holoprosencephaly

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