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Disease and Defective BTDcausesbiotidinase deficiency
ConclusionsWe describe two novel compound heterozygous mutations in BCS1LcausingCIII deficiency
Conclusions : We describe two novel compound heterozygous mutations in BCS1LcausingCIII deficiency
splicing mutations(passive) caused byFVII deficiency
mutations in LCAT(passive) is caused byLCAT deficiency
mutations in the PA(passive) to be caused byPAI-1 deficiency
in which mutations are knownto causePlasminogen Deficiency
mutations in the F7 gene ( 13q34 ) coding for FVII(passive) is caused byFVII deficiency
mutations of ECHS1 gene(passive) caused bySCEH deficiency
LCAT gene mutations(passive) is caused byLCAT deficiency
mutations in the cpt1a gene(passive) is caused bycpt1a deficiency
mutations in the SYNGAP1 gene(passive) caused bySynGAP deficiency
gene mutations ... which have been provedto causecobalamin deficiency
mutations in the SERPINA1 gene , which is located on chromosome 14(passive) is caused byantitrypsin deficiency
compound heterozygosity for two novel mutations in the TCN2 gene(passive) caused byTranscobalamin deficiency
Transcobalamin deficiency More than 20 mutations in the TCN2 gene have been foundto causetranscobalamin deficiency
mutations in the SERPINA1 gene on the q arm of chromosome 14(passive) is caused byantitrypsin deficiency
mutations in the gene encoding for CPSI(passive) is caused byCPSI deficiency
mutations in the SERPINE1 gene and inheritance(passive) is caused byPAI1 deficiency
genetic mutations in the CYP17A1 gene(passive) is caused by20-lyase deficiency
recessive mutations in the AAT gene(passive) is caused byAntitrypsin deficiency
mutations in the transaldolase 1 ( TALDO1 ) gene(passive) caused bytransaldolase deficiency
mutations in genes different from the FVII gene(passive) caused byFVII deficiency
transcobalamin deficiency - caused by mutations in the TCN2 gene More than 20 mutations in the TCN2 gene have been foundto causetranscobalamin deficiency
mutations in the SERPINA1 gene that contains the instructions to make the alpha-1 antitrypsin protein(passive) is caused byantitrypsin deficiency
inactivation of other Dph genes in CHO cells(passive) caused bydiphthamide deficiency
105845428.[Nitrous oxidecan causecobalamin deficiency
2 Novel TCN2 Mutations(passive) caused bytranscobalamin deficiency
a large number of possible mutations(passive) caused bySLC25A13 deficiency
1Defective BTDcausesbiotidinase deficiency
mutations in the SLC25A20 gene on chromosome 3p21.31(passive) is caused byCACT deficiency
homozygous or compound heterozygous mutation in the SERPINE1 gene.[2 ] Fibrinolysis inhibitors , including epsilon - aminocaproic acid and tranexamic acid(passive) is caused byPAI-1 deficiency
mutations in genes that regulate its synthesis and secretion(passive) may also be caused byAnsomone deficiency
The recognized phenotypes ... acute fatty liver of pregnancy , in which the fetus has biallelic pathogenic variants in CPT1AcausesCPT1A deficiency
different combinations of mutations at CFHR1 , CFHR3 and CFHR4(passive) was caused byFHR1 deficiency
19 % of AFLP cases ... fetal MTP mutationscauseLCHAD deficiency
pathways0.383Defective BTDcausesbiotidinase deficiency
the fetus ... the CPT1A genecausesCPT1A deficiency
a mutation in the LCAT gene(passive) is caused byLCAT deficiency
a mutation in the ATP8B1 gene(passive) is caused byFIC1 ) deficiency
severe nonspherocytic hemolytic anemia(passive) caused bysevere nonspherocytic hemolytic anemia
to barrier disruption in atopic dermatitis Hara , Hara ; Higuchi , Higuchileadingto barrier disruption in atopic dermatitis Hara , Hara ; Higuchi , Higuchi
to severe human diseases such as X - linked muscular dystrophy and a rare autosomal recessive hemolytic anemialeadsto severe human diseases such as X - linked muscular dystrophy and a rare autosomal recessive hemolytic anemia
anemia , stunted growth , and irritation of the mouthcausesanemia , stunted growth , and irritation of the mouth
an alteration in phospholipid composition , a shortening of outer and inner segments , a reduction in the photoresponse , and loss in photoreceptor cells in the visual system , and a reduction in hearing and spiral ganglion cell survival in the auditory systemcausesan alteration in phospholipid composition , a shortening of outer and inner segments , a reduction in the photoresponse , and loss in photoreceptor cells in the visual system , and a reduction in hearing and spiral ganglion cell survival in the auditory system
to a Specific and Transmissible Mucosa - associated Microbial Dysbiosis Which Is Independent of the Mucosal Barrier Defect , J Crohns Colitis 2016 Dec;10(12):1428 - 1436Leadsto a Specific and Transmissible Mucosa - associated Microbial Dysbiosis Which Is Independent of the Mucosal Barrier Defect , J Crohns Colitis 2016 Dec;10(12):1428 - 1436
your pet to develop a condition known as hyperkeratosis ( thickened skincan also causeyour pet to develop a condition known as hyperkeratosis ( thickened skin
a significant decrease in visual function and photoreceptor survival ... whereas loss in vision and photoreceptors has not been reported in patients deficient in ATP8A2 ( Coleman et al , 2014 ; McMillan et al , 2018 ; Zhu et al , 2012causesa significant decrease in visual function and photoreceptor survival ... whereas loss in vision and photoreceptors has not been reported in patients deficient in ATP8A2 ( Coleman et al , 2014 ; McMillan et al , 2018 ; Zhu et al , 2012
in heightened phosphorylation of eNOS in the aortas in vivo ( Figure 2Dresultedin heightened phosphorylation of eNOS in the aortas in vivo ( Figure 2D
neural tube or other birth defects and also preterm distribution , as well as both iron deficiency anemic as well asmight causeneural tube or other birth defects and also preterm distribution , as well as both iron deficiency anemic as well as
in oxidative stress - mediated cell death of leukemic cellsresultsin oxidative stress - mediated cell death of leukemic cells
to accumulation of pentoses & pentose phosphates Epidemiologyleadsto accumulation of pentoses & pentose phosphates Epidemiology
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency(passive) Caused byEBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency
HS - MDP – induced autophagy in AMϕ.preventedHS - MDP – induced autophagy in AMϕ.
to T cell ... mediated autoimmune diseases and increase of activated T cellswould leadto T cell ... mediated autoimmune diseases and increase of activated T cells
a severe form of ALPS(passive) caused bya severe form of ALPS
in a reduced asthmatic phenotyperesultsin a reduced asthmatic phenotype
lung alveolar macrophages and neutrophilspreventslung alveolar macrophages and neutrophils
to decreased airway inflammationledto decreased airway inflammation
to cell death and whether it plays a role in vertebrate developmentleadsto cell death and whether it plays a role in vertebrate development
to Increased Arthritis and Inflammation in ResponseLeadsto Increased Arthritis and Inflammation in Response
mitochondrial defects and mitophagy in skeletal muscle — 九州大学 Yusuke Sato , Hideaki Ohtsubo , Naohiro Nihei , Takane Kaneko , Yoriko Sato , Shin Ichi Adachi , Shinji Kondo , Mako Nakamura , Wataru Mizunoya , Hiroshi Iida , Ryuichi Tatsumi , Cristina Radacausesmitochondrial defects and mitophagy in skeletal muscle — 九州大学 Yusuke Sato , Hideaki Ohtsubo , Naohiro Nihei , Takane Kaneko , Yoriko Sato , Shin Ichi Adachi , Shinji Kondo , Mako Nakamura , Wataru Mizunoya , Hiroshi Iida , Ryuichi Tatsumi , Cristina Rada
to increased cellular stress largely because these mice fail to respond to oxidative stress by upregulating their antioxidant defense mechanismleadsto increased cellular stress largely because these mice fail to respond to oxidative stress by upregulating their antioxidant defense mechanism
in reduced joint inflammation and protection against early cartilage damageresultedin reduced joint inflammation and protection against early cartilage damage
to eczema , hair loss , infertility , weight gain , behavioural and circulatory problemscan leadto eczema , hair loss , infertility , weight gain , behavioural and circulatory problems
to reduced expression of antiapoptotic proteinsConsistent with the apoptotic phenotype described , Ter-119 +leadsto reduced expression of antiapoptotic proteinsConsistent with the apoptotic phenotype described , Ter-119 +
to differences in the transcriptional profile of Paneth cells ... ultimately leading to small intestinal inflammationleadsto differences in the transcriptional profile of Paneth cells ... ultimately leading to small intestinal inflammation
phosphorylase limit dextran accumulation AR inheritance with variable phenotype Fasting hypoglycaemia and hepatomegalycausingphosphorylase limit dextran accumulation AR inheritance with variable phenotype Fasting hypoglycaemia and hepatomegaly
in lower expression of inflammatory and coagulation mediators during endotoxemia To study the role of S1PR2 in vascular inflammationresultsin lower expression of inflammatory and coagulation mediators during endotoxemia To study the role of S1PR2 in vascular inflammation
a substantial loss of the polarized accumulation of Gβγ at the leading edges of GPCRstimulated neutrophils ( > 50 % decrease , Mazaki et al . , 2006causeda substantial loss of the polarized accumulation of Gβγ at the leading edges of GPCRstimulated neutrophils ( > 50 % decrease , Mazaki et al . , 2006
poor growth , graying hair , inflammation of the tongue ( glossitis ) , mouth ulcers , peptic ulcer , and diarrheamay causepoor growth , graying hair , inflammation of the tongue ( glossitis ) , mouth ulcers , peptic ulcer , and diarrhea
in impaired collagen secretionresultedin impaired collagen secretion
GH insufficiency(passive) caused byGH insufficiency
to clinical manifestations in early childhoodmay leadto clinical manifestations in early childhood
to a loss of cell cycle quiescence in HSCsleadsto a loss of cell cycle quiescence in HSCs
Glycogenosis(passive) caused byGlycogenosis
hypoglycosylation of α - dystroglycan , a component of the dystrophin - associated glycoprotein complexcauseshypoglycosylation of α - dystroglycan , a component of the dystrophin - associated glycoprotein complex
to a blunted carotid body hypoxic response , which is due to increased abundance of HIF-2α , elevated anti - oxidant enzyme activity , and a reduced intracellular redox stateleadsto a blunted carotid body hypoxic response , which is due to increased abundance of HIF-2α , elevated anti - oxidant enzyme activity , and a reduced intracellular redox state
thereforecould ... resulttherefore
significant attenuation of lung injury and prolonged survival ( 153causedsignificant attenuation of lung injury and prolonged survival ( 153