Loading ...
gene mutations ... which have been provedto causecobalamin deficiency
mutations in the ITPA gene(passive) caused byITPA deficiency
biallelic TPO mutations(passive) caused byTPO ) deficiency
bi - allelic mutations(passive) is caused byIL-12Rβ1 deficiency
More than 200 different genetic mutations are knownto causeG6PD deficiency
changes ( mutations ) in the AMPD1 gene(passive) is caused byAMPD1 deficiency
changes ( mutations ) in the GAMT gene(passive) is caused byGAMT deficiency
mutations in the AMPD1 gene ( 1p21(passive) is caused byAMPD1 deficiency
recessive mutations in the AAT gene(passive) is caused byAntitrypsin deficiency
genetic changes ( mutations ) in the CYP21A2 gene(passive) is caused by21-hydroxylase deficiency
mutations in SLC13A5 gene located on chromosome 17 in humans(passive) is caused bySLC13A5 deficiency
mutations in the SERPINA1 gene , which is located on chromosome 14(passive) is caused byantitrypsin deficiency
mutations in the transaldolase 1 ( TALDO1 ) gene(passive) caused bytransaldolase deficiency
mutations in the SLC25A20 gene ( 3p21.31(passive) is caused byCACT deficiency
mutations in the SERPINA1 gene on the q arm of chromosome 14(passive) is caused byantitrypsin deficiency
mutations in the serpina1 gene , which is responsible for creating the A1AT protein(passive) is caused byantitrypsin deficiency
compound heterozygous or homozygous mutations in the CD21 gene(passive) is caused byCD21 deficiency
deleterious genetic mutations in the IL-12Rβ1 gene(passive) caused byIL-12Rβ1 deficiency
mutations in the SLC25A20 gene on chromosome 3p21.31(passive) is caused byCACT deficiency
mutations in the SERPINA1 gene that contains the instructions to make the alpha-1 antitrypsin protein(passive) is caused byantitrypsin deficiency
mutations in TP53 with the pituitary to stimulate cortisol levels with a heroin addict(passive) is caused bycobalamin deficiency
mutations in the BTD gene ( 3p25 ) resulting in reduced or absent BTD activity(passive) is caused byBTD deficiency
mutations in the CYP11B2 gene At least 30 CYP11B2 gene mutations that cause(passive) caused bycorticosterone methyloxidase deficiency
point mutations in the coding region of the G6PD gene in the X chromosome [ 2–4(passive) is caused byG6PD deficiency
point mutations in the coding region of the G6PD gene in the X chromosome [ 2 , 3 , 4(passive) is caused byG6PD deficiency
an inherited gene mutation(passive) is caused byantitrypsin deficiency
nicotinamide deficiency 's long - term medicament of isonicotinic acid hydrazine and analogs(passive) caused bynicotinamide deficiency
ITSN knock - down modified Alk5 ( Montrer TGFBR1 Anticorps(passive) caused byEndocytic deficiency
d. Kidney stones e. Hartnup syndrome autosomal recessive inheritance of defective amino acid transporter results in decreased intestinal and renal reabsorption of neutral amino acids , such as tryptophan ,causingnicotinamide deficiency
Disease and Defective BTDcausesbiotidinase deficiency
genetic changes in the CYP21A2 gene(passive) is caused by21-hydroxylase deficiency
vitamin B12 ... pernicious anemiacan ... causecobalamin deficiency
6.Disruption of beclin 1causesautophagy deficiency
Weight loss associated with clinically apparent steatorrhoea has been observed in about one - third of patients with SBBO severe enoughto causecobalamin deficiency
a mutation in the ALDH2 Gene(passive) is caused byALDH2 Deficiency
the mutation of the HvDWARF gene(passive) caused byBrassinosteroid deficiency
105845428.[Nitrous oxidecan causecobalamin deficiency
vitamin B12 deficiency ... pernicious anemiacan ... causecobalamin deficiency
a defect in your alpha-1 antitrypsin genes(passive) is caused byantitrypsin deficiency
a missense mutation(passive) caused byIL-12Rβ1 deficiency
the following Retinoic acid counteracts developmental defects in the substantia nigra(passive) caused bythe following Retinoic acid counteracts developmental defects in the substantia nigra
T helper cell dependent airways eosinophilia and mucus hypersecretion in response to rhinovirus infectioncausesT helper cell dependent airways eosinophilia and mucus hypersecretion in response to rhinovirus infection
anemia , stunted growth , and irritation of mouthcausesanemia , stunted growth , and irritation of mouth
the mitochondrial phenotypes(passive) caused bythe mitochondrial phenotypes
27105398 ] A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis(passive) Caused by27105398 ] A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis
transient impairment in post - natal retinal vascular development and formation of tortuous arteries in adult murine retinae 9causestransient impairment in post - natal retinal vascular development and formation of tortuous arteries in adult murine retinae 9
amore » variety of pathological conditions , such as hypoketotic hypoglycemia , cardiac arrest , hepatomegaly , hepatic dysfunction and muscle weaknesscausesamore » variety of pathological conditions , such as hypoketotic hypoglycemia , cardiac arrest , hepatomegaly , hepatic dysfunction and muscle weakness
to an outgrowth of iNKT2 andleadsto an outgrowth of iNKT2 and
synaptic vesicle docking by quantitative ultra structural analysis of synaptic vesicle distribution in the presynaptic nerve terminal wecould influencesynaptic vesicle docking by quantitative ultra structural analysis of synaptic vesicle distribution in the presynaptic nerve terminal we
to telomere shortening ... 29444436leadsto telomere shortening ... 29444436
the development of lupus nephritis in lpr / lpr mice [ 21preventedthe development of lupus nephritis in lpr / lpr mice [ 21
rescues multi - nucleation(passive) caused byrescues multi - nucleation
to increased bacterial burden in vivo in an established mouse model of PJI and ... if so , whether this effect can be reversed by preoperative 25D3 supplementationleadsto increased bacterial burden in vivo in an established mouse model of PJI and ... if so , whether this effect can be reversed by preoperative 25D3 supplementation
Transient Impairment in Post - Natal Retinal Vascular Development and Formation of Tortuous Arteries in Adult Murine Retinae Weinl , Christine | Wasylyk , Christine | Garcia Garrido , Marina | Sothilingam , Vithiyanjali | Beck , Susanne C. | RiehleCausesTransient Impairment in Post - Natal Retinal Vascular Development and Formation of Tortuous Arteries in Adult Murine Retinae Weinl , Christine | Wasylyk , Christine | Garcia Garrido , Marina | Sothilingam , Vithiyanjali | Beck , Susanne C. | Riehle
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
to Fibrin Accumulation and a Compromised Inflammatory Response in the Mouse Brain Hultman , Karin | Cortes - Canteli , Marta | Bounoutas , Alexander | Richards , Allison T. | StricklandLeadsto Fibrin Accumulation and a Compromised Inflammatory Response in the Mouse Brain Hultman , Karin | Cortes - Canteli , Marta | Bounoutas , Alexander | Richards , Allison T. | Strickland
morphological changes(passive) caused bymorphological changes
mitochondrial calcium efflux dysregulation and mitochondrial calcium overload ( 37causesmitochondrial calcium efflux dysregulation and mitochondrial calcium overload ( 37
the multi - nucleation and failure to exit mitosis(passive) caused bythe multi - nucleation and failure to exit mitosis
ArticlePubMedGoogle Scholar Peters T , Sedlmeier R , Büssow H , Runkel F , Lüers GH , Korthaus D , Fuchs H , Hrabé de Angelis M , Stumm G , Russ AP , Porter RM , Augustin M , Franz T. Alopecia in a novel mouse model RCO3(passive) is caused byArticlePubMedGoogle Scholar Peters T , Sedlmeier R , Büssow H , Runkel F , Lüers GH , Korthaus D , Fuchs H , Hrabé de Angelis M , Stumm G , Russ AP , Porter RM , Augustin M , Franz T. Alopecia in a novel mouse model RCO3
329–334 Peters T , Sedlmeier R , Bussow H , Runkel F , Luers GH , Korthaus D , Fuchs H , Hrabe de Angelis M , Stumm G , Russ AP , Porter RM , Augustin M , Franz T ( 2003 ) Alopecia in a novel mouse model RCO3(passive) is caused by329–334 Peters T , Sedlmeier R , Bussow H , Runkel F , Luers GH , Korthaus D , Fuchs H , Hrabe de Angelis M , Stumm G , Russ AP , Porter RM , Augustin M , Franz T ( 2003 ) Alopecia in a novel mouse model RCO3
hyperplasia and mouse prostatic intraepithelial neoplasia ( mPIN ) primarily in the dorsal prostate but also in other lobescausedhyperplasia and mouse prostatic intraepithelial neoplasia ( mPIN ) primarily in the dorsal prostate but also in other lobes
a complex phenotype due to hepatic SREBP / Insig dysregulation associated with endoplasmic reticulum stresscausesa complex phenotype due to hepatic SREBP / Insig dysregulation associated with endoplasmic reticulum stress
dysmyelination in mice and humans , and humans 's 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 humans 's receptors , alpha-6 beta-1 integrin and dystroglycan , are also shown to be deeply involved in myelin formation [ 26 , 27
a compensatory increase of Parkin and significantly inhibited cisplatin - induced up - regulation of DRP1 , suggesting a renal protection mechanism by regulating DRP1 dependent mitochondrial fission and therefore to inhibit the excessive mitophagy and overall kidney damage ( Figure 6causeda compensatory increase of Parkin and significantly inhibited cisplatin - induced up - regulation of DRP1 , suggesting a renal protection mechanism by regulating DRP1 dependent mitochondrial fission and therefore to inhibit the excessive mitophagy and overall kidney damage ( Figure 6
changes that were qualitatively , but not quantitatively similar to EFA deficiency in the ratcausedchanges that were qualitatively , but not quantitatively similar to EFA deficiency in the rat
pleiotropic ultrastructural defects of centrioles , basal bodies and ciliary axonemes and it will be interesting to learn which of these phenotypes are a direct consequence , or secondary effect following loss of Ccno functioncausespleiotropic ultrastructural defects of centrioles , basal bodies and ciliary axonemes and it will be interesting to learn which of these phenotypes are a direct consequence , or secondary effect following loss of Ccno function
to a very different response in neurons than in myocytes with respect to changes in mitochondrial membrane potential , mitochondrial Ca2 + buffering capacity , and cell survivalleadsto a very different response in neurons than in myocytes with respect to changes in mitochondrial membrane potential , mitochondrial Ca2 + buffering capacity , and cell survival
to transcriptomic changes in the lung myeloid compartment characterized by increased expression of prometastatic genes , including important determinants of premetastatic niche formationleadsto transcriptomic changes in the lung myeloid compartment characterized by increased expression of prometastatic genes , including important determinants of premetastatic niche formation
age - dependent degeneration of neurons and macroglia Our data show that Xpg−/− mice , within their relatively short lifespan ( 16–18 weeks ) , develop neurological abnormalities of increasing severity in association with degenerative changes throughout the nervous systemcausesage - dependent degeneration of neurons and macroglia Our data show that Xpg−/− mice , within their relatively short lifespan ( 16–18 weeks ) , develop neurological abnormalities of increasing severity in association with degenerative changes throughout the nervous system
UDP - hexose deficit in human galactosemic cellscausesUDP - hexose deficit in human galactosemic cells
to decreased hepcidin synthesisledto decreased hepcidin synthesis
the enhanced depression - like phenotypecausedthe enhanced depression - like phenotype
nephrocalcinosis and nephrolithiasiscausingnephrocalcinosis and nephrolithiasis
CS - like white matter pathology in micetriggersCS - like white matter pathology in mice
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
microvesicular steatosis , fibrosis and disorganized Golgi apparatus A. Haematoxylin & eosin ( H&E ) stained liver biopsy shows hepatocytes with light - coloured cytoplasm , incomplete cirrhosis ( 1 , 3causesmicrovesicular steatosis , fibrosis and disorganized Golgi apparatus A. Haematoxylin & eosin ( H&E ) stained liver biopsy shows hepatocytes with light - coloured cytoplasm , incomplete cirrhosis ( 1 , 3
to hypertension without high - salt intake ... as observed in the global Hsd11b2 knockout mice and in patients with AME syndromeleadsto hypertension without high - salt intake ... as observed in the global Hsd11b2 knockout mice and in patients with AME syndrome
to an accumulation of peroxisomal metabolic intermediates ( metabolite Xleadsto an accumulation of peroxisomal metabolic intermediates ( metabolite X
the mechanism of human disease(passive) caused bythe mechanism of human disease