Related references
Note: Only part of the references are listed.RNAi-Mediated Silencing of Atp6i and Atp6i Haploinsufficiency Prevents Both Bone Loss and Inflammation in a Mouse Model of Periodontal Disease
Hongbing Jiang et al.
PLOS ONE (2013)
A Fast, Powerful Method for Detecting Identity by Descent
Brian L. Browning et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
The V-ATPase a3 Subunit Mutation R7405 Is Dominant Negative and Results in Osteopetrosis in Mice
Noelle Ochotny et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow
Kyle J. Eash et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
Jun Xia et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
Novel genetic etiologies of severe congenital neutropenia
Kaan Boztug et al.
CURRENT OPINION IN IMMUNOLOGY (2009)
V-ATPase functions in normal and disease processes
Ayana Hinton et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2009)
Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome
Wen-Xing Ding et al.
AUTOPHAGY (2008)
Characterization of vacuolar-ATPase and selective inhibition of vacuolar-H(+)-ATPase in osteoclasts
GuanFeng Yao et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Christoph Klein et al.
NATURE GENETICS (2007)
Osteoclasts degrade endosteal components and promote mobilization of hematopoietic progenitor cells
Orit Kollet et al.
NATURE MEDICINE (2006)
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
A Siepel et al.
GENOME RESEARCH (2005)
Identification of new alternative splice events in the TCIRG1 gene in different human tissues
AS Smirnova et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA
L Susani et al.
HUMAN MUTATION (2004)
Osteoblastic cells regulate the haematopoietic stem cell niche
LM Calvi et al.
NATURE (2003)
Osteoblast-specific knockout of the insulin-like growth factor (IGF) receptor gene reveals an essential role of IGF signaling in bone matrix mineralization
M Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation
S Kawasaki-Nishi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi et al.
HUMAN MOLECULAR GENETICS (2001)
Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original Kostmann family and a review
G Carlsson et al.
ACTA PAEDIATRICA (2001)
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
A Frattini et al.
NATURE GENETICS (2000)