Loading ...
the presence of this variant in the homozygous state in P3 and P4 ... enoughto causeLIG1 deficiency
Mutations of this hydrogen bond network are shownto causeinactivation deficiency
MutationscausingVLDLR deficiency
mutations in the SERPINE1 gene and inheritance(passive) is caused byPAI1 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
mutations in the ITPA gene(passive) caused byITPA deficiency
compound heterozygosity for two novel mutations in the TCN2 gene(passive) caused byTranscobalamin deficiency
by 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
metabolic diseasecausingneurodevelopmental 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
mutationscausingbiotinidase deficiency
BTD ] ] ' ' [ [ genecausebiotinidase deficiency
Dna2resultsnuclease 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
an autoimmune processcauseshypocretin - deficiency
Of all the enzymescausescellulase deficiency
mutation in the BTD gene and a similar disorder caused by mutation in the HLCS gene ( early - onset multiple carboxylase deficiency(passive) caused byBiotinidase deficiency
by compound heterozygosity(passive) caused byTranscobalamin deficiency
Mutations in PARNcausedeadenylation deficiency
by mutation or downregulation of dysferlin(passive) caused bydysferlin deficiency
Fredenburgh , Laura , E ; Velandia , Margarita , MSuarez ; Ma , Jun ; Olszak , Torsten ; Cernadas , Manuela ; Englert , Joshua , A ; Chung , Su , Wol ; Liu , Xiaoli ; Begay , Cynthia ; Padera , Robert , F ; Blumberg , Richard , S ; Walsh , Stephen , R ; Baron , Rebecca , M ; Perrella , Mark , A , 2011LeadsCyclooxygenase-2 Deficiency
enhanced intrinsic excitability of dentate granule cellscausesenhanced intrinsic excitability of dentate granule cells
in a collapsed CD4 T cell response with severely impaired CD4 T cell memory , including Tfh cell memoryeventually resultsin a collapsed CD4 T cell response with severely impaired CD4 T cell memory , including Tfh cell memory
those diseasescausedthose diseases
alsocan ... causealso
to eczema , hair losscan leadto eczema , hair loss
Psoriasis(passive) is caused byPsoriasis
in serious health problemswill resultin serious health problems
eczemacan causeeczema
reproduction issues(passive) caused byreproduction issues
to increased fibrinolysis and bleedingleadsto increased fibrinolysis and bleeding
increased fibrinolysiscausesincreased fibrinolysis
in the accumulation of calcium in the mitochondriaresultsin the accumulation of calcium in the mitochondria
decreased formationcauseddecreased formation
alsoresultsalso
mitochondrial dysfunctioncausesmitochondrial dysfunction
to accumulation of N - acetylaspartic acid and spongy degeneration of the brainleadingto accumulation of N - acetylaspartic acid and spongy degeneration of the brain
X - linked dyskeratosis congenitacausesX - linked dyskeratosis congenita
to loss of sodium and waterleadsto loss of sodium and water
to a buildup of N - acetylaspartateleadsto a buildup of N - acetylaspartate
in clinical phenotypesresultsin clinical phenotypes
to increased risk of atherosclerosis in these patientsmay contributeto increased risk of atherosclerosis in these patients
to Depressive - likeLeadsto Depressive - like
both sodium loss and volume depletion(passive) caused byboth sodium loss and volume depletion
Brief Summary Canavan disease(passive) is caused byBrief Summary Canavan 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
low serum sodiumcausinglow serum sodium
to Depressive - like Behaviors in MiceLeadsto Depressive - like Behaviors in Mice
to depressive - like behaviors in miceleadsto depressive - like behaviors in mice
to an accumulation of N - acetylaspartate in astrocytesleadsto an accumulation of N - acetylaspartate in astrocytes
to depressive - like behaviorsleadsto depressive - like behaviors
to depressive - like behaviorsleadsto depressive - like behaviors
to salt - wastingleadsto salt - wasting
to spongy degeneration of the white matterleadsto spongy degeneration of the white matter
deregulated checkpoint control signaling and lead to B - cell precursor leukemia cellscould causederegulated checkpoint control signaling and lead to B - cell precursor leukemia cells
to increased N - acetylaspartic acid in blood , tissues , and urineleadsto increased N - acetylaspartic acid in blood , tissues , and urine
hypotensioncausinghypotension
hyponatremia and hyperkalemiacauseshyponatremia and hyperkalemia
to decreased k+ excretionleadingto decreased k+ excretion
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