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The CSF3RcausesT618I mutation
a novel deleterious homozygous four - nucleotide deletioncausingframeshift mutation
Abou Jamra R.leadsMAN1B1 mutation
Changes in gene expressionresultingfrom regulatory mutations
one or more genesresultingfrom a regulatory mutation
RNA ( mRNA ) levelscauseregulatory mutation
the diseasecausingIVS1 mutation
low messenger RNA ( mRNA ) levelscauseregulatory mutation
any agent or substancecan causegenetic mutation note
Factor XIII deficiencycausingmutation , Ser295Arg
the first diseasecausinggermline mutation
a novel Leigh syndromecausingNDUFS3 mutation
In case of DNA viruses , DNA strand of virus insert directly into one chromosomecausingmutation
by insertion of new genetic material into a normal gene , particularly of retroviruses into chromosomal DNA(passive) caused byMutation
insertion of new genetic material into a normal gene , particularly of retroviruses into chromosomal DNA(passive) caused bymutation
Insertions or deletion mutations of one or more nucleotidescan causemutation
by addition or deletion of base pair in DNA(passive) caused byMutation
Exposing an organism to a certain chemical can change nucleotide bases in a genecausingmutation
2 disease ... and no normal copies of the gene ( for referencecausingmutation
by the substitution of a one or more DNA bases(passive) caused by Mutation
by the addition of one or more adjacent base pairs to a gene(passive) caused bymutation
spontaneous and induced and the result of a change in the gene or chromosome(passive) may be caused byMutation
only the one known diseasecausingmutation
background radiation at additional doses below 100mSv(passive) caused byoncogene mutation
A common cancer - associated DNA polymerasecauses mutation
the first disease ... that has been identified in the human CCT subunit genescausingmutation
by a change in a gene or a chromosome(passive) caused bymutation
the X - Gene in the mutants ' DNA(passive) is caused byMutation
the rate and types of mutation ... radiationcausemutation
only one nucleotide changecan causemutation
a very rare but known ' diseasecausingmutation
damage to the normal DNA of a pancreatic cellcausesmutation
spontaneous and induced and the result of a change in the gene or chromosomes or change in the cytoplasmic genes(passive) may be caused byMutation
the addition or deletion of the base pair(passive) can also be caused byMutation
The sequence of bases and consequently gene sequence is sometimes alteredcausingmutation
Insertion into a functional genecausesmutation
one other CF diseasecausingmutation
one cf diseasecausingmutation
one disease ... 20causingmutation
a non - pathogenic variant or a diseasecausingmutation
to the production of repressor moleculesleadsto the production of repressor molecules
to the progression of FSGS ... and how it regulates podocyte injury and deathcan leadto the progression of FSGS ... and how it regulates podocyte injury and death
out of networkcausesout of network
to loss of transcriptional control and failure of repression or inadequate activation of a genemay leadto loss of transcriptional control and failure of repression or inadequate activation of a gene
in lack of transcriptional control and failure of repression or inadequate activation of a genecould resultin lack of transcriptional control and failure of repression or inadequate activation of a gene
The syndrome(passive) is caused byThe syndrome
to a decrease or loss of Mc1r activityleadingto a decrease or loss of Mc1r activity
to a decrease or loss of Mc1r activity ( Figure 1leadingto a decrease or loss of Mc1r activity ( Figure 1
congenital abnormalities 5causecongenital abnormalities 5
to tumorigenesiscontributingto tumorigenesis
moderate but asymptomatic changes to the rate of gene expressioncausemoderate but asymptomatic changes to the rate of gene expression
in the transcriptional inactivation of 1 allele ( null alleleresultin the transcriptional inactivation of 1 allele ( null allele
to pancreas agenesisleadingto pancreas agenesis
in resistanceresultingin resistance
the susceptibility of the cell to vancomycin ( 21 , 22influencesthe susceptibility of the cell to vancomycin ( 21 , 22
to increased BMP12 production in the embryonic skinleadingto increased BMP12 production in the embryonic skin
to overexpression of the chromatin - associated transcriptional regulatorleadsto overexpression of the chromatin - associated transcriptional regulator
in a visible phenotyperesultsin a visible phenotype
yellow skin(passive) is caused byyellow skin
anaerobic derepression of the sodA gene in Escherichiacausinganaerobic derepression of the sodA gene in Escherichia
other NNRTIs(passive) caused byother NNRTIs
moderate but asymptomatic changes to the rate of gene expression , or conservative missensemutations infunctionally unimportant polypeptide domainscausemoderate but asymptomatic changes to the rate of gene expression , or conservative missensemutations infunctionally unimportant polypeptide domains
a novel parkinsonian - pyramidal syndromecausesa novel parkinsonian - pyramidal syndrome
The structural rearrangement(passive) caused byThe structural rearrangement
in constitutive activation of the kinaseresultsin constitutive activation of the kinase
moderate but asymptomatic changes to the rate tdading gene expression , or conservative missensemutations infunctionally unimportant polypeptide domainscausemoderate but asymptomatic changes to the rate tdading gene expression , or conservative missensemutations infunctionally unimportant polypeptide domains
to tumor formation in vivo , Mak and colleaguescan contributeto tumor formation in vivo , Mak and colleagues
chronic myelomonocytic leukemia ( CMML(passive) caused bychronic myelomonocytic leukemia ( CMML
to severe defects in gastrulation and formation of axial mesodermleadsto severe defects in gastrulation and formation of axial mesoderm
early - onset Alzheimer 's Disease associated with prosopagnosia , hoarding , and Parkinsonismcausingearly - onset Alzheimer 's Disease associated with prosopagnosia , hoarding , and Parkinsonism
in improved stratification of patients for different treatment options and the evaluation of novel therapeuticsmay resultin improved stratification of patients for different treatment options and the evaluation of novel therapeutics
idiopathic basal ganglia calcification with laryngeal dystoniacausingidiopathic basal ganglia calcification with laryngeal dystonia
diseases such as cystic fibrosis , sickle cell anemia , and color blindnesscausesdiseases such as cystic fibrosis , sickle cell anemia , and color blindness
Most cases of this disease(passive) are caused byMost cases of this disease
Huntington 's disease ,(passive) caused byHuntington 's disease ,
Duchenne muscular dystrophy ( DMD ) in humanscausesDuchenne muscular dystrophy ( DMD ) in humans
one of the hereditary blood disorders(passive) caused byone of the hereditary blood disorders
to diseaseleadsto disease
diseasecausingdisease
The disease(passive) is caused byThe disease