mutational$51062$ - определение. Что такое mutational$51062$
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Что (кто) такое mutational$51062$ - определение

OSTEOCHONDRODYSPLASIA THAT HAS MATERIAL BASIS IN MUTATIONS IN THE RUNX2 GENE WHICH RESULTS IN UNDEVELOPED OR ABSENT LOCATED IN CLAVICLE ALONG WITH DELAYED CLOSING OF FONTANELS IN THE LOCATED IN SKULL
Cleidocranial dysplasia; Cleidocranial; Cleidocranial Dysostosis; Craniocleidodysostosis; Mutational dysostosis

Mutational signatures         
  • COSMIC]] Signature 18 described by Alexandrov et al<ref name="Alexandrov2013" /> (Signature 18 plot [https://github.com/eyzhao/mutation-signature-tools/tree/master/visualization R code]).<ref name="Zhao 2017" />
  • '''Conceptual workflow of somatic mutational signatures identification.''' Diverse mutagenesis processes shape the somatic landscape of tumors. Deciphering the underlying patterns of cancer mutations allows to uncover relationships between these recurrent patterns of mutations and infer possible causal mutational processes.
CHARACTERISTIC COMBINATION OF MUTATION TYPES ARISING FROM A SPECIFIC MUTAGENESIS PROCESS
User:Mylinhthibodeau/sandbox/Mutational Signatures in Cancer; Draft:Mutational Signatures in Cancer; Mutational Signatures in Cancer; Mutational signatures in cancer
Mutational signatures are characteristic combinations of mutation types arising from specific mutagenesis processes such as DNA replication infidelity, exogenous and endogenous genotoxin exposures, defective DNA repair pathways, and DNA enzymatic editing.
Puberphonia         
Pubophonia; Puberophonia; Mutational falsetto; Mutational dysphonia
Puberphonia (also known as mutational falsetto, functional falsetto, incomplete mutation, adolescent falsetto, or pubescent falsetto) is a functional voice disorder that is characterized by the habitual use of a high-pitched voice after puberty, hence why many refer to the disorder as resulting in a ‘falsetto’ voice. The voice may also be heard as breathy, rough, and lacking in power.
Tumor mutational burden         
  • Factors such as tumor cell content, tissue preprocessing, choice of sequencing technology, downstream bioinformatic pipelines, and TMB cutoffs can influence TMB calculations.
Draft:Tumor Mutational Burden
Tumour mutational burden (abbreviated as TMB) is a genetic characteristic of tumorous tissue that can be informative to cancer research and treatment. It is defined as the number of non-inherited mutations per million bases (Mb) of investigated genomic sequence, and its measurement has been enabled by next generation sequencing.

Википедия

Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected.

The condition is either inherited or occurs as a new mutation. It is inherited in an autosomal dominant manner. It is due to a defect in the RUNX2 gene which is involved in bone formation. Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.

Treatment includes supportive measures such as a device to protect the skull and dental care. Surgery may be performed to fix certain bone abnormalities. Life expectancy is generally normal.

It affects about one per million people. Males and females are equally commonly affected. Modern descriptions of the condition date to at least 1896. The term is from cleido meaning collarbone, cranial from the Greek κρανιὀς meaning skull, and dysostosis meaning formation of abnormal bone.