mutational$51062$ - traducción al español
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mutational$51062$ - traducción al español

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      
adj. mutacional, que muta, que cambia, relativo a la mutación
mutation         
  • date=31 December 2015 }}</ref>
  • Five types of chromosomal mutations
  • fitness]] of each mutant was compared with the ancestral type. A fitness of zero, less than one, one, more than one, respectively, indicates that mutations are lethal, deleterious, neutral, and advantageous.<ref name="Sanjuán04" />
  • A red [[tulip]] exhibiting a partially yellow petal due to a mutation in its genes
  • Types of small-scale mutations
  • This figure shows a simplified version of loss-of-function, switch-of-function, gain-of-function, and conservation-of-function mutations.
  • translational]] regulation of [[gene expression]].
  • Selection of disease-causing mutations, in a standard table of the [[genetic code]] of [[amino acid]]s<ref>References for the image are found in Wikimedia Commons page at: [[Commons:File:Notable mutations.svg#References]].</ref>
  • Point mutations classified by impact on protein
  • somatic]] mutation that may also be passed on in the [[germline]].
  • ''[[Prodryas persephone]]'', a Late [[Eocene]] butterfly
  • Mutation with double bloom in the Langheck Nature Reserve near [[Nittel]], Germany
CHANGE OF THE NUCLEOTIDE SEQUENCE OF THE GENOME OF AN ORGANISM
Mutations; Genetic mutation; Mutates; Mutate; Mutation and disease; Gene mutation; Loss-of-function mutation; Gain-of-function mutation; Neomorphic mutation; Antimorphic mutation; Amorphic mutation; Loss-of-function; Mutant allele; Genetic mutations; Conditional lethal mutation; Conditional mutation; Mutation event; Loss of function; Mutated; Spontaneous mutation; Mutant proteins; Nuclear mutation; Reversion (genetics); Genetic damage; DNA mutations; Chromosomal gain; Beneficial mutation; Acquired genetic mutation; Reverse mutation; Genetic changes; Mutating; Viral mutation; Backmutation; Back-mutation; Gene mutation analysis; Extragenic; Radiation genetics; Mutant Proteins; DNA error; In-frame mutation; In-frame deletion; DNA mutation; Mutational; Distribution of fitness effects; Types of mutation; Sporadic mutation; Harmful mutation; Deleterious mutation; Sport (genetics); Mutation (biology); Inactivating mutation; De novo mutations; Activating mutations; Mutant spectrum; Deformation (biology); Loss-of-function mutant; Gain of function mutation; Substitution (genetics); Loss of function mutation
mutación
cambio
mudanza
variación
vicisitud
mutate         
  • date=31 December 2015 }}</ref>
  • Five types of chromosomal mutations
  • fitness]] of each mutant was compared with the ancestral type. A fitness of zero, less than one, one, more than one, respectively, indicates that mutations are lethal, deleterious, neutral, and advantageous.<ref name="Sanjuán04" />
  • A red [[tulip]] exhibiting a partially yellow petal due to a mutation in its genes
  • Types of small-scale mutations
  • This figure shows a simplified version of loss-of-function, switch-of-function, gain-of-function, and conservation-of-function mutations.
  • translational]] regulation of [[gene expression]].
  • Selection of disease-causing mutations, in a standard table of the [[genetic code]] of [[amino acid]]s<ref>References for the image are found in Wikimedia Commons page at: [[Commons:File:Notable mutations.svg#References]].</ref>
  • Point mutations classified by impact on protein
  • somatic]] mutation that may also be passed on in the [[germline]].
  • ''[[Prodryas persephone]]'', a Late [[Eocene]] butterfly
  • Mutation with double bloom in the Langheck Nature Reserve near [[Nittel]], Germany
CHANGE OF THE NUCLEOTIDE SEQUENCE OF THE GENOME OF AN ORGANISM
Mutations; Genetic mutation; Mutates; Mutate; Mutation and disease; Gene mutation; Loss-of-function mutation; Gain-of-function mutation; Neomorphic mutation; Antimorphic mutation; Amorphic mutation; Loss-of-function; Mutant allele; Genetic mutations; Conditional lethal mutation; Conditional mutation; Mutation event; Loss of function; Mutated; Spontaneous mutation; Mutant proteins; Nuclear mutation; Reversion (genetics); Genetic damage; DNA mutations; Chromosomal gain; Beneficial mutation; Acquired genetic mutation; Reverse mutation; Genetic changes; Mutating; Viral mutation; Backmutation; Back-mutation; Gene mutation analysis; Extragenic; Radiation genetics; Mutant Proteins; DNA error; In-frame mutation; In-frame deletion; DNA mutation; Mutational; Distribution of fitness effects; Types of mutation; Sporadic mutation; Harmful mutation; Deleterious mutation; Sport (genetics); Mutation (biology); Inactivating mutation; De novo mutations; Activating mutations; Mutant spectrum; Deformation (biology); Loss-of-function mutant; Gain of function mutation; Substitution (genetics); Loss of function mutation
mudar
alterar
sufrir una mutación
mutar

Definición

mutation
n.
1) to induce a mutation
2) a gene mutation

Wikipedia

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.