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MPV17 gene
Known as:
MPV17, MOUSE, HOMOLOG OF
, SYM1
, MPV17
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National Institutes of Health
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Related topics
Related topics
2 relations
Glomerulosclerosis (disorder)
Mpv17 protein, mouse
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
Zhuang-zhuang Yuan
,
Fang Yu
,
Jie-Yuan Jin
,
Zi-Jun Jiao
,
Ju-yu Tang
,
R. Xiang
Bioscience Reports
2020
Corpus ID: 219172787
Abstract Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal…
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2018
2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex
Micol Gilberti
,
E. Baruffini
,
C. Donnini
,
C. Dallabona
PLoS ONE
2018
Corpus ID: 52899315
Mitochondrial DNA depletion syndromes (MDDS) are a genetically and clinically heterogeneous group of human diseases caused by…
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2017
2017
A mother wavelet selection study for vertical ground reaction force signals
Racha Soubra
,
M. Diab
,
Bassam Moslem
2nd International Conference on Bio-engineering…
2017
Corpus ID: 33929909
Wavelet transform (WT) is a recent mathematical tool widely used in biomedical field. Its application enormously spans the field…
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2016
2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
Joonil Kim
,
Eungu Kang
,
+7 authors
H. Yoo
Molecular Genetics and Metabolism Reports
2016
Corpus ID: 15442390
2014
2014
Mpv 17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro
G. Casalena
,
S. Krick
,
+9 authors
E. Bottinger
2014
Corpus ID: 33430862
Gabriela Casalena,* Stefanie Krick,* Ilse Daehn, Liping Yu, Wenjun Ju, Shaolin Shi, Su-yi Tsai, Vivette D’Agati, Maja Lindenmeyer…
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2012
2012
Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome
E. Athanasakis
,
X. Biarnés
,
M. Bonati
,
P. Gasparini
,
F. Faletra
Molecular Syndromology
2012
Corpus ID: 32248522
Proximal symphalangism (SYM1) is a joint morphogenesis disorder characterized by stapes ankylosis, proximal interphalangeal joint…
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2010
2010
Foxd3 is an essential Nodal-dependent regulator of zebrafish dorsal mesoderm development.
L. Chang
,
D. Kessler
Developmental Biology
2010
Corpus ID: 22141807
Review
2008
Review
2008
Cushing proximal symphalangism and the NOG and GDF5 genes
S. Plett
,
W. Berdon
,
R. Cowles
,
R. Oklu
,
John B. Campbell
Pediatric Radiology
2008
Corpus ID: 20762739
Proximal symphalangism (SYM1) is an autosomal-dominant developmental disorder of joint fusion. This disorder is best known from…
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1995
1995
Incremental Linearization with Cdl{tags in Vm{gen Memo 74
Anne Kilger
1995
Corpus ID: 15488774
Incremental processing is a promising way to improve the performance of natural language generation systems. It imposes speci c…
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1992
1992
Spectroscopic and redox properties of sym1 and (M)F195H: Rhodobacter capsulatus reaction center symmetry mutants which affect the initial electron donor.
J. Stocker
,
A. Taguchi
,
H. Murchison
,
N. Woodbury
,
S. Boxer
Biochemistry
1992
Corpus ID: 16790040
The redox properties, absorption, electroabsorption, CD, EPR, and P+QA- recombination kinetics have been measured for the special…
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