Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29736
Abstract: SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival. read more here.
Keywords: v15a variant; linking synuclein; variant linking; study snca ... See more keywords
Density functional study on highly energetic organic azides with empirical formula Cn(N3)m
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Quantum Chemistry"
DOI: 10.1002/qua.27351
Abstract: The structural, electronic, and thermodynamical properties of Cn(N3)m (n = 1–7) (m = 4, 6) organic azides have been investigated using Density Functional Calculations. The ground state structures of organic azides were compared with CnHm (n = 1–7) (m = 4, 6) cumulenes… read more here.
Keywords: stability; organic azides; study highly; functional study ... See more keywords
Functional study of three cases with novel TBX19 variants
Sign Up to like & getrecommendations! Published in 2025 at "Endocrine"
DOI: 10.1007/s12020-024-04153-z
Abstract: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is an autosomal recessive disorder. This study identifies novel TBX19 variants for CIAD patients, explores its possible effect mechanism at the structural, functional and protein levels, and guides clinicians… read more here.
Keywords: novel tbx19; pomc transcriptional; study three; tbx19 variants ... See more keywords
The functional study of novel KLHL3 missense mutations associated with pseudohypoaldosteronism type II.
Sign Up to like & getrecommendations! Published in 2025 at "Endocrine"
DOI: 10.1007/s12020-025-04456-9
Abstract: Pseudohypoaldosteronism type II (PHA II) is an inherited tubulopathy, clinically defined by three hallmark features, including secondary hypertension, hyperchloremic metabolic acidosis, and persistent hyperkalemia occurring despite maintained glomerular filtration function. Herein, we aim to investigate… read more here.
Keywords: klhl3; pseudohypoaldosteronism type; study; functional study ... See more keywords
Density functional study of elastic and thermal properties of cubic mercury-zinc-chalcogenide ternary alloys
Sign Up to like & getrecommendations! Published in 2020 at "Bulletin of Materials Science"
DOI: 10.1007/s12034-020-02236-x
Abstract: First principle calculations of elastic and thermal properties of zinc-blende specimens within Hg x Zn 1– x S, Hg x Zn 1− x Se and Hg x Zn 1− x Te ternary systems are executed.… read more here.
Keywords: elastic thermal; density functional; study elastic; functional study ... See more keywords
A hybrid density functional study of optical and electronic properties of Al\Ga-codoped ZnO
Sign Up to like & getrecommendations! Published in 2019 at "Optik"
DOI: 10.1016/j.ijleo.2018.10.135
Abstract: Abstract The energetic, electronic structures and optical properties of Al-, Ga-doped and Al\Ga-codoped ZnO systems with the concentration x = y = 3.125% have been investigated using first-principles calculations. The results show that the Al\Ga-codoped ZnO can be easily… read more here.
Keywords: codoped zno; density functional; optical electronic; functional study ... See more keywords
Exploitation of the cereals during the Pre-pottery Neolithic of Dja'de-el-Mughara: Preliminary results of the functional study of the glossy blades
Sign Up to like & getrecommendations! Published in 2017 at "Quaternary International"
DOI: 10.1016/j.quaint.2016.01.064
Abstract: Abstract The village of Dja'de-el-Mughara (Northern Syria, excavated by E. Coqueugniot) is essential to understand the process of neolithisation in the Near East since the settlement was contemporary with the first attempts of agriculture in… read more here.
Keywords: glossy blades; functional study; preliminary results; dja mughara ... See more keywords
Neanderthal and Denisovan ancestry in Papuans: A functional study
Sign Up to like & getrecommendations! Published in 2018 at "Journal of bioinformatics and computational biology"
DOI: 10.1142/s0219720018400115
Abstract: Sequencing of complete nuclear genomes of Neanderthal and Denisovan stimulated studies about their relationship with modern humans demonstrating, in particular, that DNA alleles from both Neanderthal and Denisovan genomes are present in genomes of modern… read more here.
Keywords: ancestry papuans; functional study; neanderthal denisovan; denisovan ... See more keywords
Immunological functional study by use of the chemotherapy drug plus immunologic hapten like penicillin on the fibrosis of local tumor inflammatory reaction and the immunity of tumor-bearing mice.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.e15196
Abstract: e15196Background: Observe the antitumor effect of intratumoral injection of chemotherapy drugs or combined with immune adjuvant on Balb/c and c57 tumor bearing mice and the local inflammatory respo... read more here.
Keywords: functional study; tumor bearing; immunological functional; bearing mice ... See more keywords
Functional Study on the Key Gene LaLBD37 Related to the Lily Bulblets Formation
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms25179456
Abstract: Oriental hybrid lilies, known for their vibrant colors, diverse flower shapes, and long blooming seasons, require annual bulb propagation in horticultural production. This necessity can lead to higher production costs and limit their use in… read more here.
Keywords: bulblet formation; functional study; lily bulblets; gene ... See more keywords
Functional study of SCCD pathogenic gene UBIAD1
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2021.12345
Abstract: Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant genetic disorder that is characterized by progressive corneal opacity, owing to aberrant accumulation of cholesterol and phospholipids in the cornea. A number of SCCD affected… read more here.
Keywords: study sccd; sccd pathogenic; functional study; gene ubiad1 ... See more keywords