Functional analysis of novelDEAF1variants identified through clinical exome sequencing expandsDEAF1-associated neurodevelopmental disorder (DAND) phenotype-Reference-Cited by-同舟云学术

Functional analysis of novelDEAF1variants identified through clinical exome sequencing expandsDEAF1-associated neurodevelopmental disorder (DAND) phenotype

Published:2017-09-23 Issue:12 Volume:38 Page:1774-1785
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Li¹^ORCID,Jensik Philip J.²,Alaimo Joseph T.³⁴,Walkiewicz Magdalena³⁴,Berger Seth⁵,Roeder Elizabeth³⁶,Faqeih Eissa A.⁷,Bernstein Jonathan A.⁸,Smith Ann C. M.⁹,Mullegama Sureni V.³¹⁰,Saffen David W.¹¹¹¹²,Elsea Sarah H.³⁴

Affiliation:

1. Department of Cellular and Genetic Medicine, School of Basic Medical Sciences; Fudan University; Shanghai China

2. Department of Physiology; Southern Illinois University School of Medicine; Carbondale Illinois

3. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

4. Baylor Genetics Laboratory; Houston Texas

5. Medical Genetics Branch; National Human Genome Research Institute, National Institutes of Health; Bethesda Maryland

6. Departments of Pediatrics; Baylor College of Medicine; San Antonio Texas

7. Department of Pediatrics Subspecialty, Children's Specialist Hospital; King Fahad Medical City; Riyadh Saudi Arabia

8. Department of Pediatrics; Stanford University School of Medicine; Stanford California

9. Office of the Clinical Director; National Human Genome Research Institute, National Institutes of Health; Bethesda Maryland

10. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine; University of California; Los Angeles California

11. Institutes of Brain Science; Fudan University; Shanghai China

12. State Key Laboratory for Medical Neurobiology; Fudan University; Shanghai China

Funder

Smith-Magenis Syndrome Research Foundation

National Natural Science Foundation of China

Shanghai Health and Family Planning Commission

China Scholarship Council

National Institutes of Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

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3. Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants;Berger;Human Genetics,2017

4. The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation;Bottomley;Nature Structural Biology,2001

5. Increased serotonin-1A (5-HT1A) autoreceptor expression and reduced raphe serotonin levels in deformed epidermal autoregulatory factor-1 (Deaf-1) gene knock-out mice;Czesak;Journal of Biological Chemistry,2012

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