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by frameshift , nonsense , and splice - site mutations(passive) caused byHaploinsufficiency mutations
frameshift , nonsense , and splice - site mutations(passive) caused byhaploinsufficiency mutations
frameshift , nonsense , and splice - site mutations , which lead to failure to synthesize the products of one COL1A1 allele(passive) caused byhaploinsufficiency mutations
noncoding regionscausingnumerous " passenger " mutations
radiation , viruses , transposons , and mutagenic chemicals(passive) are caused byMutation Mutations
copying errors in the genetic material during cell division , by exposure to ultraviolet or ionizing radiation , chemical mutagens , or viruses(passive) can be caused by Mutation Mutations
point mutations or small truncations leading to the expression of a gene product that has lost an interaction with another protein(passive) are caused byEdgetic mutations
imp1 andcausecut15 mutations
by carcinogenic UV light exposure(passive) caused bypassenger mutations
carcinogenic UV light exposure(passive) caused bypassenger mutations
in 2004(passive) were discoveredEGFR mutations
Base analogs(passive) caused byAT->GC mutations
the mutagenic stressinfluencedEGFR mutations
from inheriting one or more mutated genes that interferes with the normal process of methylation(passive) are causedMTHFR mutations
also(passive) are ... discoveredmTOR mutations
in 2004 ( 4,6,7(passive) were discoveredEGFR mutations
another gene variant that might explain incomplete penetrance in LRRK2 mutations(passive) are influenced byLRRK2 mutations
Disease ... , howevercausingmutations of SOD1
disease ... a gain of function(passive) cause ... bySOD1 mutations
different ALScausingmutations in SOD1
frame shiftcausingindel mutations
another endogenous factorcan causegermline mutations
cancercausingBRCA mutations
by post - mortem DNA damage ( see Materials and Methods(passive) caused byartefactual mutations
diseasecausingcrystallin mutations
exposure of the fetus in the uterus(passive) are caused byTeratogenic mutations
exposure to direct sunlight(passive) caused by33,000 mutations
by exposure to direct sunlight(passive) caused by33,000 mutations
to be responsible for a significant fraction of early - onset prostate cancer(passive) have also been discoveredBRCA2 mutations
steroid-27 hydroxylase activity(passive) caused byCYP27A1 mutations
by forms of electromagnetic radiation , including ultraviolet ( uv ) light , x - rays and gamma rays uv light from the sun(passive) can ... be caused bymutations mutations
to infectionleadto infection
to cancer growthto ... contributeto cancer growth
the phenotypic outcomepotentially influencingthe phenotypic outcome
the problems(passive) caused bythe problems
in a quantitative defectresultin a quantitative defect
to obesity in albright hereditary osteodystrophyleadto obesity in albright hereditary osteodystrophy
Pitt - Hopkins syndrome showscausingPitt - Hopkins syndrome shows
protein aggregation and decrease protein stability , which are linked to amyotrophic lateral sclerosis ( ALS ) diseasecauseprotein aggregation and decrease protein stability , which are linked to amyotrophic lateral sclerosis ( ALS ) disease
ALS in 20 percent of inherited cases of diseasecauseALS in 20 percent of inherited cases of disease
familial ALS cases(passive) caused byfamilial ALS cases
to about 20 % of familial ALS ( FALS ) casescontributeto about 20 % of familial ALS ( FALS ) cases
ALS diseasecauseALS disease
the molecular mechanism of mitochondrial pathology in familial ALS(passive) caused bythe molecular mechanism of mitochondrial pathology in familial ALS
familial ALS(passive) caused byfamilial ALS
until 2007causeduntil 2007
amyotrophic lateral sclerosis ( ALScauseamyotrophic lateral sclerosis ( ALS
PTHS until 2007causedPTHS until 2007
ALS by destabilizing the SOD1 protein structurecauseALS by destabilizing the SOD1 protein structure
diseasecausingdisease
treatment of ALS(passive) caused bytreatment of ALS
in ALSresultin ALS
ALSdo ... causeALS
to ALSleadto ALS
ALScauseALS
ALScausingALS
the initial cancermay ... have causedthe initial cancer
a mouse model of ALS(passive) caused bya mouse model of ALS
from the different genetic backgroundresultingfrom the different genetic background
cases of fALS(passive) caused bycases of fALS
to the destabilization of the SOD1 proteinleadingto the destabilization of the SOD1 protein
by destabilizing the SOD1 protein structurecauseby destabilizing the SOD1 protein structure
the expression of a misfolded protein that is toxic to nerve cellscausethe expression of a misfolded protein that is toxic to nerve cells
to oxidative stressleadto oxidative stress
fALScausingfALS
only 10 % or so of overall casescauseonly 10 % or so of overall cases
in toxicityresultin toxicity
in a toxic gain of function rather than a loss of functionresultin a toxic gain of function rather than a loss of function
to onset and progression of the diseaseleadto onset and progression of the disease
the authorsledthe authors
in the formation of aggregates and how these aggregates may differ for various mutationsresultin the formation of aggregates and how these aggregates may differ for various mutations