Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome
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Title
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 22, Issue 4, Pages 464-470
Publisher
Springer Nature
Online
2013-08-21
DOI
10.1038/ejhg.2013.192
References
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Note: Only part of the references are listed.- A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome
- (2012) Femke Hannes et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
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- Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome
- (2012) Claudia Kerzendorfer et al. HUMAN MOLECULAR GENETICS
- Endoplasmic reticulum potassium-hydrogen exchanger and small conductance calcium-activated potassium channel activities are essential for ER calcium uptake in neurons and cardiomyocytes
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- The Histone Methyltransferase MMSET Regulates Class Switch Recombination
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- Histone methylation: a dynamic mark in health, disease and inheritance
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- The Histone Methyltransferase and Putative Oncoprotein MMSET Is Overexpressed in a Large Variety of Human Tumors
- (2011) H. R. Hudlebusch et al. CLINICAL CANCER RESEARCH
- Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
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- Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
- (2011) Yue Luo et al. HUMAN MOLECULAR GENETICS
- MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites
- (2011) Huadong Pei et al. NATURE
- Wolf–Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage
- (2011) Ildiko Hajdu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Interstitial microdeletion of 4p16.3: Contribution ofWHSC1haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome
- (2010) Kosuke Izumi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice
- (2009) C. Catela et al. Disease Models & Mechanisms
- A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome
- (2009) Angus G. McQuibban et al. HUMAN MOLECULAR GENETICS
- Human Negative Elongation Factor Activates Transcription and Regulates Alternative Transcription Initiation
- (2009) Jianlong Sun et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome
- (2009) Keisuke Nimura et al. NATURE
- Genome-Wide RNAi Screen Identifies Letm1 as a Mitochondrial Ca2+/H+ Antiporter
- (2009) D. Jiang et al. SCIENCE
- On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
- (2008) Marcella Zollino et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3
- (2008) Sarah T. South et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision
- (2008) Agatino Battaglia et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
- (2008) Hannelie Engbers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Multiple Myeloma-Related WHSC1/MMSET Isoform RE-IIBP Is a Histone Methyltransferase with Transcriptional Repression Activity
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- The MMSET protein is a histone methyltransferase with characteristics of a transcriptional corepressor
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