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the presence of this variant in the homozygous state in P3 and P4 ... enoughto causeLIG1 deficiency
MutationscausingVLDLR deficiency
mutations in SLC13A5 gene located on chromosome 17 in humans(passive) is caused bySLC13A5 deficiency
an alteration ( a mutation or a change ) in the G6PD gene(passive) is caused byG6PD deficiency
recessive mutations in the AAT gene(passive) is caused byAntitrypsin deficiency
by the homozygous p(passive) caused byTransaldolase deficiency
by the homozygous p(passive) caused by Transaldolase deficiency
the homozygous p(passive) caused byTransaldolase deficiency
by a lack of protein in the blood(passive) is caused byantitrypsin deficiency
genetic changes ( mutations ) in the CYP21A2 gene(passive) is caused by21-hydroxylase deficiency
by a novel mutation(passive) caused byantitrypsin deficiency
different mutations(passive) caused byG6PD deficiency
by a novel mutation ( p(passive) caused byantitrypsin deficiency
a change , or mutation(passive) is caused byantitrypsin deficiency
Excess flax intake without supplementary fat sourcescan causeomega-6 deficiency
mutations in the ITPA gene(passive) caused byITPA deficiency
vitamin B12 deficiency ... pernicious anemiacan ... causecobalamin deficiency
by a rare genetic defect(passive) caused byantitrypsin deficiency
Alpha-1resultsantitrypsin deficiency
other disorders ... vitamin B12can causecobalamin deficiency
a genetic abnormality(passive) is caused byantitrypsin deficiency
to promote EMT by stabilizing Twist1 ( 43(passive) has been discoveredAutophagy deficiency
genetic changes in the CYP21A2 gene(passive) is caused by21-hydroxylase deficiency
changes ( mutations ) in the AMPD1 gene(passive) is caused byAMPD1 deficiency
Niacinleadsnicotinamide - deficiency
many different mutationscan causeplasminogen deficiency
Genetic testing for plasminogen mutations ... many different mutationscan causeplasminogen deficiency
A form of Batten diseasecausesTPP1 deficiency
A1AT(passive) is causedantitrypsin deficiency
Nitrous oxidecan causecobalamin deficiency
Nitrous Oxide Exposure to nitrous oxidecausescobalamin deficiency
Stevens - Johnson syndrome(passive) caused byconjunctival deficiency
changes ( mutations ) in the(passive) is caused byAMPD1 deficiency
a genetic abnormality which means that the protein alpha-1 antitrypsin , normally released into the blood to protect from inflammation , is instead trapped in the liver(passive) is caused byantitrypsin deficiency
a mutationcausesAMPD1 deficiency
the ancestral haplotypecausingAMPD1 deficiency
in accumulation of activated GKS proteins , such as Irga6 , on ER membranesshould resultin accumulation of activated GKS proteins , such as Irga6 , on ER membranes
developmental defects in the substantia nigra(passive) caused bydevelopmental defects in the substantia nigra
impairments in ES cell spreading , adhesion , and migrationcausesimpairments in ES cell spreading , adhesion , and migration
to [ [ thrombosismay leadto [ [ thrombosis
GH insufficiency(passive) caused byGH insufficiency
mitochondrial accumulation of calciumcausesmitochondrial accumulation of calcium
in the accumulation of calcium in the mitochondriaresultsin the accumulation of calcium in the mitochondria
dysmyelination in mice and humans , and its receptors , alpha-6 beta-1 integrin and dystroglycan , are also shown to be deeply involved in myelin formation [ 26 , 27causesdysmyelination in mice and humans , and its receptors , alpha-6 beta-1 integrin and dystroglycan , are also shown to be deeply involved in myelin formation [ 26 , 27
alsoresultsalso
mitochondrial dysfunctioncausesmitochondrial dysfunction
mitochondrial dysfunction(passive) caused bymitochondrial dysfunction
these changescausesthese changes
in clinical phenotypesresultsin clinical phenotypes
to increased risk of atherosclerosis in these patientsmay contributeto increased risk of atherosclerosis in these patients
the severe neurodegenerative phenotype(passive) caused bythe severe neurodegenerative phenotype
a complex phenotypecausesa complex phenotype
astrocytes dysfunctioncausesastrocytes dysfunction
the spectrum of disease(passive) caused bythe spectrum of disease
defects in GFAP - positive astrogliogenesis during brain developmentcausesdefects in GFAP - positive astrogliogenesis during brain development
defects in the differentiation of NSCs to astrocytescausesdefects in the differentiation of NSCs to astrocytes
on the contraryleadson the contrary
defect of complex I , mitochondrial depolarization and increased sensitivity to apoptotic stresscausesdefect of complex I , mitochondrial depolarization and increased sensitivity to apoptotic stress
to increased nuclear light scattering , membrane damage , and cataract formation in gene - knockout miceleadsto increased nuclear light scattering , membrane damage , and cataract formation in gene - knockout mice
the enhanced depression - like phenotypecausedthe enhanced depression - like phenotype
multiple behavioral abnormalities in mice ... namely ... hyperactivity , enhanced depression - like behavior , and anxiety - related abnormalitiescausedmultiple behavioral abnormalities in mice ... namely ... hyperactivity , enhanced depression - like behavior , and anxiety - related abnormalities
nephrocalcinosis and nephrolithiasiscausingnephrocalcinosis and nephrolithiasis
defects in GFAP - positive astrogliogenesis during brain development and NSC differentiation , which may be a factor to increase risk for PDcausesdefects in GFAP - positive astrogliogenesis during brain development and NSC differentiation , which may be a factor to increase risk for PD
mitochondrial dysfunctions in neurons and astrocytes [ 2 , 7 , 44causesmitochondrial dysfunctions in neurons and astrocytes [ 2 , 7 , 44
transient impairment in post - natal retinal vascular development and formation of tortuous arteries in adult murine retinaecausestransient impairment in post - natal retinal vascular development and formation of tortuous arteries in adult murine retinae
several behavioral abnormalities in mice ... particularly in the emotional aspectscausedseveral behavioral abnormalities in mice ... particularly in the emotional aspects
a general effect on mRNA translation ... or whether it results in aberrant translation of specific mRNAs that contributes to the SDS phenotypecausesa general effect on mRNA translation ... or whether it results in aberrant translation of specific mRNAs that contributes to the SDS phenotype
to an outgrowth of iNKT2 andleadsto an outgrowth of iNKT2 and
to an outgrowth of iNKT2leadsto an outgrowth of iNKT2
behavioral alternations ( summarized in Table 1causesbehavioral alternations ( summarized in Table 1
defects in astrogliogenesis ... decreasing the number of GFAP - positive astrocytes and causing abnormalities in their locations and configurations in the corpus callosum ... and substantia nigra reticulatecausesdefects in astrogliogenesis ... decreasing the number of GFAP - positive astrocytes and causing abnormalities in their locations and configurations in the corpus callosum ... and substantia nigra reticulate