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Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-020-02251-2
Abstract: DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with DOORS syndrome without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G,…
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Keywords:
causes phenotype;
doors syndrome;
deficiency causes;
pigf deficiency ... See more keywords
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Published in 2021 at "Nature communications"
DOI: 10.1038/s41467-021-21050-5
Abstract: Some multicellular organisms can fuse because mergers potentially provide mutual benefits. However, experimental evolution in the fungus Neurospora crassa has demonstrated that free fusion of mycelia favours cheater lineages, but the mechanism and evolutionary dynamics…
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Keywords:
reproductive parasitism;
deficiency causes;
causes reproductive;
parasitism fungus ... See more keywords
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Published in 2019 at "Journal of Molecular Cell Biology"
DOI: 10.1093/jmcb/mjz048
Abstract: Abstract Heat shock protein 90 (Hsp90) is an abundant molecular chaperone with two isoforms, Hsp90α and Hsp90β. Hsp90β deficiency causes embryonic lethality, whereas Hsp90α deficiency causes few abnormities except male sterility. In this paper, we…
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Keywords:
hsp90;
deficiency causes;
molecular chaperone;
vesicle transportation ... See more keywords
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Published in 2020 at "Circulation"
DOI: 10.1161/circ.142.suppl_3.12877
Abstract: Introduction: Low circulating magnesium (Mg) level is associated with increased cardiovascular mortality, and conversely, dietary Mg intake is associated with a decreased risk of developing heart f...
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Keywords:
deficiency causes;
12877 magnesium;
abstract 12877;
causes reversible ... See more keywords
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Published in 2020 at "Circulation Research"
DOI: 10.1161/res.127.suppl_1.218
Abstract: Introduction: Hypomagnesemia is common in patients with diabetes, hypertension, and heart failure. A low circulating Mg level is associated with increased cardiovascular mortality, and conversely, dietary magnesium (Mg) intake is associated with a decreased risk…
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Keywords:
deficiency;
diastolic systolic;
deficiency causes;
heart failure ... See more keywords
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Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022008135
Abstract: Key Points • Dynamin-2 haplodeficient female mice develop neutropenia with aging.• Neutropenia is because of defective production from dysmyelopoiesis and migration defects.
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Keywords:
sex dependent;
causes age;
age sex;
mice ... See more keywords
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Published in 2023 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202217078
Abstract: Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first…
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Keywords:
lethal syndrome;
causes lethal;
rtk signaling;
raf1 deficiency ... See more keywords
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Published in 2020 at "Reproduction"
DOI: 10.1530/rep-20-0097
Abstract: Asthenozoospermia (AS), defined as low-motility spermatozoa in the ejaculate, is a frequent cause of human male infertility. DJ-1 (also known as PARK7), a protein highly associated with male sterility, binds to the mitochondrial complex I…
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Keywords:
deficiency causes;
testicular tissues;
abnormality ornidazole;
deficiency ... See more keywords
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Published in 2022 at "Diabetes"
DOI: 10.2337/db22-0162
Abstract: Melanocortin-4 receptor (MC4R) in paraventricular nucleus in hypothalamus (PVH) shows bidirectional characterization in modulating food intake and energy homeostasis. Here, we demonstrated that MC4R knock down (MC4R KD) in PVH could attenuate AMPA receptor (AMPAR)…
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Keywords:
pvh;
mc4r;
body weight;
mc4r deficiency ... See more keywords