相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies
J. Suleiman et al.
CLINICAL GENETICS (2018)
Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition
Chaochen Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Critical Roles of the Histone Methyltransferase MLL4/KMT2D in Murine Hepatic Steatosis Directed by ABL1 and PPARγ2
Dae-Hwan Kim et al.
CELL REPORTS (2016)
Crucial Roles of Mixed-Lineage Leukemia 3 and 4 as Epigenetic Switches of the Hepatic Circadian Clock Controlling Bile Acid Homeostasis in Mice
Dae-Hwan Kim et al.
HEPATOLOGY (2015)
Taspase1-dependent TFIIA cleavage coordinates head morphogenesis by limiting Cdkn2a locus transcription
Shugaku Takeda et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development
Ana Ortega-Molina et al.
NATURE MEDICINE (2015)
Hijacked in cancer: the KMT2 (MLL) family of methyltransferases
Rajesh C. Rao et al.
NATURE REVIEWS CANCER (2015)
MLL3 Is a Haploinsufficient 7q Tumor Suppressor in Acute Myeloid Leukemia
Chong Chen et al.
CANCER CELL (2014)
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
De novo mutations in histone-modifying genes in congenital heart disease
Samir Zaidi et al.
NATURE (2013)
H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation
Ji-Eun Lee et al.
ELIFE (2013)
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Wendy D. Jones et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A Pharmacologic Inhibitor of the Protease Taspase1 Effectively Inhibits Breast and Brain Tumor Growth
David Y. Chen et al.
CANCER RESEARCH (2012)
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
Debbie S. Kuo et al.
HUMAN MOLECULAR GENETICS (2012)
Predicting the functional impact of protein mutations: application to cancer genomics
Boris Reva et al.
NUCLEIC ACIDS RESEARCH (2011)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
A tumor suppressive coactivator complex of p53 containing ASC-2 and histone H3-lysine-4 methyltransferase MLL3 or its paralogue MLL4
Jeongkyung Lee et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
Natalie C. Jones et al.
NATURE MEDICINE (2008)
Species selectivity of mixed-lineage leukemia/trithorax and HCF proteolytic maturation pathways
Francesca Capotosti et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
A facelift for the general transcription factor TFIIA
Torill Hoiby et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION (2007)
Proteolysis of MLL family proteins is essential for Taspase1-orchestrated cell cycle progression
Shugaku Takeda et al.
GENES & DEVELOPMENT (2006)
Uncleaved TFIIA is a substrate for taspase 1 and active in transcription
HQ Zhou et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Crystal structure of human Taspase1, a crucial protease regulating the function of MLL
JA Khan et al.
STRUCTURE (2005)
Immune abnormalities are a frequent manifestation of Kabuki syndrome
JD Hoffman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Taspase1:: A threonine aspartase required for cleavage of MLL and proper HOX gene expression
JJD Hsieh et al.
CELL (2003)
Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization
JJD Hsieh et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation
T Nakamura et al.
MOLECULAR CELL (2002)
MLL targets SET domain methyltransferase activity to Hox gene promoters
TA Milne et al.
MOLECULAR CELL (2002)
MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia
SA Armstrong et al.
NATURE GENETICS (2002)
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling
EJ Yeoh et al.
CANCER CELL (2002)
The INK4a/ARF network in tumour suppression
CJ Sherr
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins
PM Ayton et al.
ONCOGENE (2001)
Predicting deleterious amino acid substitutions
PC Ng et al.
GENOME RESEARCH (2001)
TFIIAα/β-like factor is encoded by a germ cell-specific gene whose expression is up-regulated with other general transcription factors during spermatogenesis in the mouse
SY Han et al.
BIOLOGY OF REPRODUCTION (2001)