Results 171 to 180 of about 468,888 (313)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Purification and Electron Transfer from Soluble c-Type Cytochrome TorC to TorA for Trimethylamine N-Oxide Reduction. [PDF]

open access: yesInt J Mol Sci
Panwar A   +7 more
europepmc   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao   +122 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho   +9 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang   +14 more
wiley   +1 more source

Genetic Code Expansion in <i>Shewanella oneidensis</i> MR-1 Allows Site-Specific Incorporation of Bioorthogonal Functional Groups into a <i>c</i>-Type Cytochrome. [PDF]

open access: yesACS Synth Biol
Lockwood CWJ   +12 more
europepmc   +1 more source

A comprehensive proteome and phosphoproteome atlas across nine organs of the Chinese hamster

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study presents the first comprehensive proteome and phosphoproteome atlas of the Chinese hamster across nine organs (heart, liver, lung, kidney, spleen, cerebral cortex, skeletal muscle, stomach, and testis or ovary). A total of 14 219 proteins were identified in the proteome, with 11 828 phosphorylated proteins and 47 122 phosphorylation sites ...
Luyao Zhang   +15 more
wiley   +1 more source

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