PIGF deficiency causes a phenotype overlapping with DOORS syndrome
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: causes phenotype; doors syndrome; deficiency causes; pigf deficiency ... See more keywords
Somatic deficiency causes reproductive parasitism in a fungus.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: reproductive parasitism; deficiency causes; causes reproductive; parasitism fungus ... See more keywords
The molecular chaperone Hsp90α deficiency causes retinal degeneration by disrupting Golgi organization and vesicle transportation in photoreceptors
Sign Up to like & getrecommendations! 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… read more here.
Keywords: hsp90; deficiency causes; molecular chaperone; vesicle transportation ... See more keywords
Abstract 12877: Magnesium Deficiency Causes Reversible Metabolic Diastolic and Systolic Cardiomyopathies
Sign Up to like & getrecommendations! 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... read more here.
Keywords: deficiency causes; 12877 magnesium; abstract 12877; causes reversible ... See more keywords
Abstract 218: Magnesium Deficiency Causes Reversible Diastolic and Systolic Cardiomyopathies by Impairing Mitochondrial Function
Sign Up to like & getrecommendations! 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… read more here.
Keywords: deficiency; diastolic systolic; deficiency causes; heart failure ... See more keywords
Dynamin-2 deficiency causes age- and sex-dependent neutropenia and myelodysplasia in mice
Sign Up to like & getrecommendations! 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. read more here.
Keywords: sex dependent; causes age; age sex; mice ... See more keywords
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
Sign Up to like & getrecommendations! 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… read more here.
Keywords: lethal syndrome; causes lethal; rtk signaling; raf1 deficiency ... See more keywords
DJ-1 deficiency causes metabolic abnormality in ornidazole-induced asthenozoospermia.
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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… read more here.
Keywords: deficiency causes; testicular tissues; abnormality ornidazole; deficiency ... See more keywords
MC4R Deficiency Causes Dysregulation of Postsynaptic Excitatory Synaptic Transmission as a Crucial Culprit for Obesity.
Sign Up to like & getrecommendations! 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)… read more here.
Keywords: pvh; mc4r; body weight; mc4r deficiency ... See more keywords