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。ABCB6 Mutations Cause Ocular Coloboma
Lejing Wang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
Ryan Zarychanski et al.
BLOOD (2012)
ATP-dependent Mitochondrial Porphyrin Importer ABCB6 Protects against Phenylhydrazine Toxicity
Dagny L. Ulrich et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to a SLC2A1 Mutation
Waleed M. Bawazir et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis
Virginie Helias et al.
NATURE GENETICS (2012)
Crystal structure of a heterodimeric ABC transporter in its inward-facing conformation
Michael Hohl et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)
Shifting the Paradigm: The Putative Mitochondrial Protein ABCB6 Resides in the Lysosomes of Cells and in the Plasma Membrane of Erythrocytes
Katalin Kiss et al.
PLOS ONE (2012)
A Novel Flow Cytometric HTS Assay Reveals Functional Modulators of ATP Binding Cassette Transporter ABCB6
Kishore Polireddy et al.
PLOS ONE (2012)
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome
Joanna F. Flatt et al.
BLOOD (2011)
Conserved Intramolecular Disulfide Bond Is Critical to Trafficking and Fate of ATP-binding Cassette (ABC) Transporters ABCB6 and Sulfonylurea Receptor 1 (SUR1)/ABCC8
Yu Fukuda et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes
Andrew K. Stewart et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2010)
Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation
Anna Bogdanova et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells
Immacolata Andolfo et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
UMD-CFTR: A Database Dedicated to CF and CFTR-Related Disorders
Corinne Bareil et al.
HUMAN MUTATION (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Mitochondrial ABC proteins in health and disease
Ariane Zutz et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2009)
The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein
Lesley J. Bruce et al.
BLOOD (2009)
Molecular models of the open and closed states of the whole human CFTR protein
Jean-Paul Mornon et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2009)
Structure of P-Glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding
Stephen G. Aller et al.
SCIENCE (2009)
Molecular modeling of the human multidrug resistance protein 1 (MRP1/ABCC1)
Marianne K. DeGorter et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus
Masashi Tsuchida et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Role of Transferrin Receptor and the ABC Transporters ABCB6 and ABCB7 for Resistance and Differentiation of Tumor Cells towards Artesunate
Gerhard Kelter et al.
PLOS ONE (2007)
Structure of a bacterial multidrug ABC transporter
Roger J. P. Dawson et al.
NATURE (2006)
GROMACS: Fast, flexible, and free
D Van der Spoel et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2005)
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
LJ Bruce et al.
NATURE GENETICS (2005)
Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia.: Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form
DA Gore et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Hemolytic disease due to membrane ion channel disorders
GW Stewart
CURRENT OPINION IN HEMATOLOGY (2004)
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia
M Carella et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome:: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction
B Fricke et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Critical roles for the COOH-terminal NITY and RGT sequences of the integrin β3 cytoplasmic domain in inside-out and outside-in signaling
XD Xi et al.
JOURNAL OF CELL BIOLOGY (2003)
Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane
PG Haines et al.
BRITISH JOURNAL OF HAEMATOLOGY (2001)
MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis
N Mitsuhashi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
分享论文
