Results 101 to 110 of about 5,769,599 (338)

A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report

open access: yesJournal of Biochemical and Clinical Genetics, 2020
Background: Mitochondrial DNA-depletion syndromes (MDDS) usually present with a wide spectrum of clinical manifestations, such as weakness, hypotonia, developmental delay, and/or seizures, and are categorized as myopathic, encephalomyopathic ...
Maher Mohammed Al-Hatlani   +1 more
doaj   +1 more source

Syndrome Measurement Strategies for the [[7,1,3]] Code

open access: yes, 2015
Quantum error correction (QEC) entails the encoding of quantum information into a QEC code space, measuring error syndromes to properly locate and identify errors, and, if necessary, applying a proper recovery operation.
Weinstein, Yaakov S.
core   +1 more source

Gene-Gene Interaction between APOA5 and USF1: Two Candidate Genes for the Metabolic Syndrome [PDF]

open access: yes, 2009
Objective: The metabolic syndrome, a major cluster of risk factors for cardiovascular diseases, shows increasing prevalence worldwide. Several studies have established associations of both apolipoprotein A5 (APOA5) gene variants and upstream stimulatory ...
  +11 more
core   +2 more sources

Chimeric diphtheria toxin–CCL8 cytotoxic peptide for breast cancer management

open access: yesMolecular Oncology, EarlyView.
DTCCL8 is a recombinant fusion toxin that targets cancer cells expressing chemokine receptors. By combining diphtheria toxin with CCL8, DTCCL8 binds to multiple receptors on tumor cells and induces selective cytotoxicity. This strategy enables receptor‐mediated targeting of cancer and may support the development of chemokine‐guided therapeutics ...
Bernardo Chavez   +5 more
wiley   +1 more source

Oro-facial-digital syndrome Type 1: A case report

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2014
Oro-Facial Digital Syndrome (OFDS) is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits.
Kanika Singh Dhull   +4 more
doaj   +1 more source

Gender, socio-economic status and metabolic syndrome in middle-aged and old adults. [PDF]

open access: yes, 2008
BACKGROUND: Studies that addressed social and economic determinants of cardiovascular diseases, consistently showed an increase prevalence of the individual features of metabolic syndrome in the lower socio-economic strata.
Barros, Henrique   +2 more
core   +2 more sources

Olaparib synergy screen reveals Exemestane induces replication stress in triple‐negative breast cancer

open access: yesMolecular Oncology, EarlyView.
Screening 166 FDA‐approved anticancer drugs identifies the aromatase inhibitor Exemestane as a synergistic partner of PARP inhibitor Olaparib in BRCA‐proficient triple‐negative breast cancer. Exemestane induces ROS‐mediated replication stress, enhancing DNA damage and apoptosis alongside Olaparib.
Nur Aininie Yusoh   +5 more
wiley   +1 more source

A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]

open access: yes, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E.   +2 more
core   +1 more source

Possible role of human ribonuclease dicer in the regulation of R loops

open access: yesFEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik   +2 more
wiley   +1 more source

An efficient strategy for producing RNA‐free Nucleocapsid protein of SARS‐CoV‐2 for biochemical and structural investigations

open access: yesFEBS Open Bio, EarlyView.
Cleavable N‐terminal Thioredoxin fusion enabled soluble expression and purification of otherwise insoluble SARS‐CoV‐2 Nucleocapsid (N) protein. A four‐step purification strategy yielded highly homogeneous, RNA‐free N protein. Binding assays showed high RNA affinity (Kd ~ 28 nm). The study will facilitate high‐resolution structural studies of N protein,
Shweta Singh, Gagan D. Gupta
wiley   +1 more source

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