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the presence of this variant in the homozygous state in P3 and P4 ... enoughto causeLIG1 deficiency
by mutations in the collagen?like tail subunit ( ColQ ) of the asymmetric enzyme(passive) caused byacetylcholinesterase deficiency
by a novel homozygous mutation ( y27stop ) in the cytochrome CYP17 gene(passive) caused byhydroxylase/17,20-lyase deficiency
recessive mutations in the AAT gene(passive) is caused byAntitrypsin deficiency
mutations in the SERPINE1 gene and inheritance(passive) is caused byPAI1 deficiency
by the homozygous p(passive) caused by Transaldolase deficiency
the homozygous p(passive) caused byTransaldolase deficiency
by the homozygous p(passive) caused byTransaldolase deficiency
pathogenic variants in the HADHA gene(passive) is caused byLCHAD deficiency
by a novel homozygous mutation ( y27stop(passive) caused byhydroxylase/17,20-lyase deficiency
by a deficiency in an enzyme called N - glycanase-1 , which is encoded by the gene(passive) to be caused byNGLY1 deficiency
Excess flax intake without supplementary fat sourcescan causeomega-6 deficiency
vitamin B12 deficiency ... pernicious anemiacan ... causecobalamin deficiency
compound heterozygosity for two novel mutations in the TCN2 gene(passive) caused byTranscobalamin deficiency
More than 20 mutations in the TCN2 gene have been foundto causetranscobalamin deficiency
We describe two novel compound heterozygous mutations in BCS1LcausingCIII deficiency
many different mutationscan causeplasminogen deficiency
by mutations(passive) caused byPAI1 deficiency
a frame - shift mutation in exon 4 of the PAI-1 gene(passive) caused byPAI-1 deficiency
Genetic testing for plasminogen mutations ... many different mutationscan causeplasminogen deficiency
fasting(passive) is sometimes caused byLCHAD deficiency
Nitrous oxidecan causecobalamin deficiency
Nitrous Oxide Exposure to nitrous oxidecausescobalamin deficiency
by mutations in LCAT(passive) is caused byLCAT deficiency
mutations in the TRNT1 gene , which provides instructions for making a protein involved in the production ( synthesis ) of other proteins(passive) is caused byTRNT1 deficiency
recessively inherited mutations affecting nuclear encoded structural subunits or assembly factors(passive) is caused byCIII deficiency
an autoimmune processcauseshypocretin - deficiency
Of all the enzymescausescellulase deficiency
an abnormality ( mutation(passive) is caused byCPT1A deficiency
LCAT gene mutations(passive) is caused byLCAT deficiency
a reduction of the HK activitycauseshexokinase deficiency
the HK activitycauseshexokinase deficiency
a backward positioned upper jaw(passive) caused byParanasal deficiency
backward positioned small upper jaw(passive) caused byParanasal deficiency
a backward positioned small upper jaw(passive) caused byParanasal deficiency
by inbreeding within the three populations(passive) caused byheterozygote deficiency
a mistake in the code for the CPT1A gene ( mutation ) resulting in decreased carnitine palmitoyltransferase 1 enzyme activity preventing normal metabolism of long - chain fatty acids from food and stored fat and decreased energy production(passive) is caused byCPT1A deficiency
in a drastic reduction of these myeloid cells in bloodresultedin a drastic reduction of these myeloid cells in blood
those diseasescausedthose diseases
alsocan ... causealso
to eczema , hair losscan leadto eczema , hair loss
Psoriasis(passive) is caused byPsoriasis
reproduction issues(passive) caused byreproduction issues
GH insufficiency(passive) caused byGH insufficiency
to barrier disruptionleadingto barrier disruption
Some cases of somatotropic hormone deficiency(passive) are caused bySome cases of somatotropic hormone deficiency
to barrier disruption in atopic dermatitisleadingto barrier disruption in atopic dermatitis
to barrier disruption atopic dermatitisleadingto barrier disruption atopic dermatitis
to impaired Lmx1b function ... ultimately resulting in loss of dorsal cell fate and then of Lmx1b expressionwould leadto impaired Lmx1b function ... ultimately resulting in loss of dorsal cell fate and then of Lmx1b expression
skin sensitivitycausesskin sensitivity
to increased risk of atherosclerosis in these patientsmay contributeto increased risk of atherosclerosis in these patients
in reduced axonal mitochondrial movement , which wasresultedin reduced axonal mitochondrial movement , which was
higher apoptosis and responsivenesscontributedhigher apoptosis and responsiveness
in reduced joint inflammation and protection against early cartilage damageresultedin reduced joint inflammation and protection against early cartilage damage
alsoledalso
to diseases such as X - linked muscular dystrophy and rare autosomal recessive hemolytic anemialeadsto diseases such as X - linked muscular dystrophy and rare autosomal recessive hemolytic anemia
male infertilitycausesmale infertility
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
to DCM and premature deathleadsto DCM and premature death
to cell deathleadsto cell death
higher apoptosis and responsiveness to increased level of ATPcontributedhigher apoptosis and responsiveness to increased level of ATP
to X - linked muscular dystrophy and autosomal recessive hemolytic anemialeadsto X - linked muscular dystrophy and autosomal recessive hemolytic anemia
to profound congenital hearing lossleadsto profound congenital hearing loss
in fulminant myopathy and early lethalityresultsin fulminant myopathy and early lethality
to growth hormone and insulin deficiency in both fruit flies and miceleadsto growth hormone and insulin deficiency in both fruit flies and mice
to a Specific and Transmissible Mucosa - associated Microbial Dysbiosis Which Is Independent of the Mucosal Barrier DefectLeadsto a Specific and Transmissible Mucosa - associated Microbial Dysbiosis Which Is Independent of the Mucosal Barrier Defect
in reduced axonal mitochondrial movement , which was partially reversed by concomitant SNPH depletionresultedin reduced axonal mitochondrial movement , which was partially reversed by concomitant SNPH depletion
in a protective effect against 6-OHDA - induced DA degeneration and neuronal death , which was associated with the attenuated inflammatory responseresultedin a protective effect against 6-OHDA - induced DA degeneration and neuronal death , which was associated with the attenuated inflammatory response
to less rejection due to lower activation and proliferation of host immune cellsleadsto less rejection due to lower activation and proliferation of host immune cells
11(3)2019 Mar. EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency(passive) Caused by11(3)2019 Mar. EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency
the expression of major airway secretory proteins , including Muc5ac ( A ) , Muc5b ( B ) , CCSP ( C ) , and ciliated cell marker Foxj1 ( D ) both before and after PAO1 infectioninfluencesthe expression of major airway secretory proteins , including Muc5ac ( A ) , Muc5b ( B ) , CCSP ( C ) , and ciliated cell marker Foxj1 ( D ) both before and after PAO1 infection