TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease
Authors
Keywords
-
Journal
Frontiers in Genetics
Volume 5, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2014-12-11
DOI
10.3389/fgene.2014.00439
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease
- (2015) Paola Dongiovanni et al. HEPATOLOGY
- Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity
- (2015) Silvia Sookoian et al. HEPATOLOGY
- A novelEBPc.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2
- (2014) María C. Barboza-Cerda et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Down-Regulated MAC30 Expression Inhibits Proliferation and Mobility of Human Gastric Cancer Cells
- (2014) Xiao-Yan Xu et al. CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
- Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
- (2014) Oddgeir L Holmen et al. NATURE GENETICS
- Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease
- (2014) Julia Kozlitina et al. NATURE GENETICS
- Conradi-Hünermann-Happle Syndrome: A Novel Heterozygous Missense Mutation, c.204G>T (p.W68C)
- (2014) Charlotte Lambrecht et al. PEDIATRIC DERMATOLOGY
- TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content
- (2014) H. Mahdessian et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cholesterol and Cancer, in the Balance
- (2014) S. Silvente-Poirot et al. SCIENCE
- TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease
- (2014) Yang-Lin Liu et al. Nature Communications
- Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation
- (2013) Harald Bode et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi–Hünermann–Happle syndrome
- (2013) Javier Cañueto et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I
- (2013) C. Babbs et al. HAEMATOLOGICA
- Conradi-Hünermann-Happle Syndrome With Cervical Stenosis
- (2013) Jia-Woei Hou PEDIATRIC NEUROLOGY
- A common ancestry for BAP1 and Uch37 regulators
- (2012) Luis Sanchez-Pulido et al. BIOINFORMATICS
- Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)
- (2012) A.W. Arnold et al. BRITISH JOURNAL OF DERMATOLOGY
- Cholesterol epoxide hydrolase and cancer
- (2012) Sandrine Silvente-Poirot et al. CURRENT OPINION IN PHARMACOLOGY
- Exome sequencing and complex disease: practical aspects of rare variant association studies
- (2012) R. Do et al. HUMAN MOLECULAR GENETICS
- Expression of MAC30 protein is related to survival and clinicopathological variables in breast cancer
- (2012) Min Xiao et al. JOURNAL OF SURGICAL ONCOLOGY
- Elevated expression of MAC30 predicts lymph node metastasis and unfavorable prognosis in patients with epithelial ovarian cancer
- (2012) Shanshan Yang et al. MEDICAL ONCOLOGY
- Exome sequencing and the genetic basis of complex traits
- (2012) Adam Kiezun et al. NATURE GENETICS
- Overexpression of MAC30 is associated with poor clinical outcome in human non-small-cell lung cancer
- (2012) Kai-Yu Han et al. TUMOR BIOLOGY
- Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease
- (2012) Dapeng Zhang et al. Frontiers in Genetics
- Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP Mutation
- (2011) Fanny Morice-Picard ARCHIVES OF DERMATOLOGY
- Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
- (2011) J. Cañueto et al. BRITISH JOURNAL OF DERMATOLOGY
- Significance of mRNA and Protein Expression of MAC30 in Progression of Colorectal Cancer
- (2011) Zeng-Ren Zhao et al. CHEMOTHERAPY
- Long-Term Benefits of 5 Years of Tamoxifen: 10-Year Follow-Up of a Large Randomized Trial in Women at Least 50 Years of Age With Early Breast Cancer
- (2011) Allan Hackshaw et al. JOURNAL OF CLINICAL ONCOLOGY
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- The Pfam protein families database
- (2011) M. Punta et al. NUCLEIC ACIDS RESEARCH
- HMMER web server: interactive sequence similarity searching
- (2011) R. D. Finn et al. NUCLEIC ACIDS RESEARCH
- DUFs: families in search of function
- (2010) Alex Bateman et al. Acta Crystallographica Section F-Structural Biology and Crystallization Communications
- A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
- (2010) Larissa V. Furtado et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Overexpression of MAC30 in the Cytoplasm of Oral Squamous Cell Carcinoma Predicts Nodal Metastasis and Poor Differentiation
- (2010) Bao-Yong Yan et al. CHEMOTHERAPY
- Identification and pharmacological characterization of cholesterol-5,6-epoxide hydrolase as a target for tamoxifen and AEBS ligands
- (2010) P. de Medina et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Syndrome de Conradi-Hünermann-Happle de disposition unilatérale
- (2009) M. Hello et al. ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
- Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening
- (2009) Fabian Bartz et al. Cell Metabolism
- Conradi-Hünermann-Happle Syndrome (X-linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis
- (2008) A Kolb-Mäurer et al. ACTA DERMATO-VENEREOLOGICA
- Identification of essential amino acid residues in a sterol 8,7-isomerase fromZea maysreveals functional homology and diversity with the isomerases of animal and fungal origin
- (2008) Alain Rahier et al. BIOCHEMICAL JOURNAL
- High 8-dehydrocholesterol level in a typical case of Conradi–Hunermann–Happle syndrome with a novel H76Y missense mutation
- (2008) Ayano Umekoji et al. JOURNAL OF DERMATOLOGICAL SCIENCE
- Domain-Based and Family-Specific Sequence Identity Thresholds Increase the Levels of Reliable Protein Function Transfer
- (2008) Sarah Addou et al. JOURNAL OF MOLECULAR BIOLOGY
- Prenatal testing for a novelEBP missense mutation causing X-linked dominant chondrodysplasia punctata
- (2008) Carolyn Tysoe et al. PRENATAL DIAGNOSIS
- Drug Target Identification Using Side-Effect Similarity
- (2008) M. Campillos et al. SCIENCE
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started