Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
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Title
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 7, Pages 957-962
Publisher
Springer Nature
Online
2014-10-15
DOI
10.1038/ejhg.2014.213
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- (2013) Hiroshi Doi et al. INTERNAL MEDICINE
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- (2013) S. M. Dauphinee et al. JOURNAL OF IMMUNOLOGY
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
- (2013) Caie Zhang et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- TRAF6 promoted the tumorigenicity of esophageal squamous cell carcinoma
- (2013) Feng Yao et al. TUMOR BIOLOGY
- TRAF6 promoted the metastasis of esophageal squamous cell carcinoma
- (2013) Qingqi Han et al. TUMOR BIOLOGY
- A Novel OPA3 Mutation Revealed by Exome Sequencing
- (2013) Beenish Arif et al. JAMA Neurology
- Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
- (2012) Zhimiao Lin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional studies for theTRAF6mutation associated with hypohidrotic ectodermal dysplasia
- (2012) H. Fujikawa et al. BRITISH JOURNAL OF DERMATOLOGY
- A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia
- (2012) S.A. Wisniewski et al. BRITISH JOURNAL OF DERMATOLOGY
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
- (2012) William A. Gahl et al. GENETICS IN MEDICINE
- Next-generation sequencing demands next-generation phenotyping
- (2012) Raoul C.M. Hennekam et al. HUMAN MUTATION
- SASH1 regulates proliferation, apoptosis, and invasion of osteosarcoma cell
- (2012) Qingbing Meng et al. MOLECULAR AND CELLULAR BIOCHEMISTRY
- Effects of SASH1 on lung cancer cell proliferation, apoptosis, and invasion in vitro
- (2012) En-guo Chen et al. TUMOR BIOLOGY
- Overexpression of SASH1 related to the decreased invasion ability of human glioma U251 cells
- (2012) Liu Yang et al. TUMOR BIOLOGY
- The candidate tumor suppressor SASH1 interacts with the actin cytoskeleton and stimulates cell–matrix adhesion
- (2011) Melanie Martini et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- TRAF6 is an amplified oncogene bridging the RAS and NF-κB pathways in human lung cancer
- (2011) Daniel T. Starczynowski et al. JOURNAL OF CLINICAL INVESTIGATION
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Phosphoproteomics Profiling of Human Skin Fibroblast Cells Reveals Pathways and Proteins Affected by Low Doses of Ionizing Radiation
- (2010) Feng Yang et al. PLoS One
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- HomozygosityMapper--an interactive approach to homozygosity mapping
- (2009) D. Seelow et al. NUCLEIC ACIDS RESEARCH
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