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carrying the same two diseasecausingmutations of the CFTR gene
recently(passive) was ... discoveredEpigenetic Mutations Aberrant promoter methylation
diseasecausingmutations in the CFTR gene
Clinical significance In humanscan causemutations in the PRDM12 gene
of repeats of the three DNA bases CAG(passive) are composedMutations in the huntingtin gene
The diseasecausesmutations in the HBB gene
to search for diseasecausingmutations in the NR2E3 gene
Any mutation ( point mutation , insertion or deletion ) in the promoter region on one DNA strandwill inevitably causemutation in the reverse promoter
a conditionresultingfrom mutations of the Spred1 gene
by viruses(passive) are ... caused byMutations in the MYC gene
No diseasecausingmutations in the GABBR1 gene
antitrypsin deficiency ... an inherited disordermay causeMutations in the SERPINA1 gene
CADASILresultsfrom mutations in the NOTCH3 gene
an autosomal recessive genodermatosisresultsfrom mutations in the FERMT1 gene
192 diseasecausingmutations in the FXI gene
Atypical forms of multiminicore diseaseoften resultfrom mutations in the RYR1 gene
in 1998(passive) were discoveredMutations in the PARK2 gene
was notedto result partlyfrom mutations in the telomerase promoter
substancescausemutations in the genome
When ... to use in - depth learningto discovermutations in the genome
by a compromised NER system(passive) are caused bymutations at gene promoter sites
a compromised NER system(passive) are caused bymutations at gene promoter sites
recently(passive) were ... discoveredpromoter mutations
All of the followingmay resultfrom promoter mutations
most diseasecausingmutations of G6PD
no glaucomacausingmutations in OPTN
Mayo Clinic investigators ... the firstto discovermutations in MAPT
to cause a familial form of hypertension known as Gordon 's syndrome , characterized by increased renal salt reabsorption(passive) were discoveredMutations in WNK1
this conditionresultsfrom PCBD1 gene mutations
this conditionresultsfrom QDPR gene mutations
a decrease in expression have been tied to androgenic alopecia leading to the belief that a lack of activation by the Wnt pathway is a major cause of AGAcausea decrease in expression have been tied to androgenic alopecia leading to the belief that a lack of activation by the Wnt pathway is a major cause of AGA
a disease called Cousin Syndromecan causea disease called Cousin Syndrome
to increased transcription levelsleadingto increased transcription levels
factor VII ( F7 ) deficiency(passive) caused byfactor VII ( F7 ) deficiency
variation in gene expression levels ( 28causevariation in gene expression levels ( 28
to an inactivation of this regionleadingto an inactivation of this region
the rate of transcriptionmay influencethe rate of transcription
changes in wild type TP53 expressioncausingchanges in wild type TP53 expression
the silencingcould have causedthe silencing
intracellular catalase levels and further detoxification of hydrogen peroxidecan influenceintracellular catalase levels and further detoxification of hydrogen peroxide
in autosomal hypophosphatemic rickets possibly by preventing proteolytic cleavage , which enhances the biologic activity ofresultin autosomal hypophosphatemic rickets possibly by preventing proteolytic cleavage , which enhances the biologic activity of
to differential regulation of the genes in the Pks1 gene clustercould leadto differential regulation of the genes in the Pks1 gene cluster
to increased levels of TERT mRNA , TERT protein , telomerase enzymatic activity and telomere length in vitroleadto increased levels of TERT mRNA , TERT protein , telomerase enzymatic activity and telomere length in vitro
to increased transcriptional activity of the promoter ( 28 , 29 , 30 ... and to higher level of TERT mRNAleadto increased transcriptional activity of the promoter ( 28 , 29 , 30 ... and to higher level of TERT mRNA
Pelizaeus - Merzbacher - like diseasecausingPelizaeus - Merzbacher - like disease
to high transcriptional activityleadto high transcriptional activity
TERT altered expression(passive) caused byTERT altered expression
inherited glycosylphosphatidylinositol deficiencycausesinherited glycosylphosphatidylinositol deficiency
in TERT over expression[127,128resultin TERT over expression[127,128
in overexpression of TERTresultingin overexpression of TERT
in an increased proliferation of LCLsresultedin an increased proliferation of LCLs
inherited glycosylphosphatidylinositol deficiency Attachmentcausesinherited glycosylphosphatidylinositol deficiency Attachment
to enhanced gene expression like TERT gene , and virus genome integration that leads to disturbance of endogenous regulatory genes ( 15leadingto enhanced gene expression like TERT gene , and virus genome integration that leads to disturbance of endogenous regulatory genes ( 15
to subset prognostication of lower - grade gliomascontributeto subset prognostication of lower - grade gliomas
in increased TERT expressionresultin increased TERT expression
to subset prognostication of lower - grade gliomas ( 2014contributeto subset prognostication of lower - grade gliomas ( 2014
to increased fosX expressionleadingto increased fosX expression
to IDH mutations in predicting differential responses to adjuvant therapies in WHO grade II and II diffuse gliomascontributeto IDH mutations in predicting differential responses to adjuvant therapies in WHO grade II and II diffuse gliomas
in the upregulation of transcriptionresultin the upregulation of transcription
diseasecausingdisease
to decreased expressionleadingto decreased expression
the diseasesalso causesthe diseases
oncogenesis in somatic cellscan causeoncogenesis in somatic cells
in recessivemay resultin recessive
to over- production of cellular DHFRleadingto over- production of cellular DHFR
pncA expression(passive) caused bypncA expression
HIV disease progressionmight ... influenceHIV disease progression
to overproduction of DHFRleadingto overproduction of DHFR
a severe neurological disorder(passive) caused bya severe neurological disorder
in nuclear localizationresultedin nuclear localization