Genetic Evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal
Next generation sequencing reveals a novel pathogenic variant in the ATMgene
Introduction: Ataxia telangiectasia (A-T) is a uncommon autosomal recessive multisystemic illness. Sufferers with the A-T syndrome current a broad spectrum of illness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.
Methodology: A affected person of Persian origin presenting with typical A-T was referred to our genetics middle for specialised genetic counseling and testing. Focused next-generation sequencing (NGS) was utilized. Sanger sequencing was used to substantiate the candidate variant. Modeling was carried out utilizing the SWISS-MODEL server.Outcomes: A homozygous stop-gain variant c.829G > T (p.E277*) was discovered within the ATM gene. This variant was confirmed by Sanger sequencing and modeling of native construction and truncated construction was carried out.
Conclusion: Thus far, only a few pathogenic variants of the ATM gene have been reported from the Iranian inhabitants. The discovering has implications in molecular diagnostic for A-T in Iran.
Description: A polyclonal antibody against ATPAF2. Recognizes ATPAF2 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-ELK1 (Ser383). Recognizes Phospho-ELK1 (Ser383) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-ELK1 (Ser383). Recognizes Phospho-ELK1 (Ser383) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against ZNF596. Recognizes ZNF596 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against ZNF596. Recognizes ZNF596 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against CA14. Recognizes CA14 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CA14. Recognizes CA14 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against SF1 (Ab-82). Recognizes SF1 (Ab-82) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against SF1 (Ab-82). Recognizes SF1 (Ab-82) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against CCT7. Recognizes CCT7 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CCT7. Recognizes CCT7 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-MAPT (Ser404). Recognizes Phospho-MAPT (Ser404) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:100, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-MAPT (Ser404). Recognizes Phospho-MAPT (Ser404) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:100, IF:1:100-1:200
Description: A polyclonal antibody against CST1. Recognizes CST1 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC, IF;IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against CST1. Recognizes CST1 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC, IF;IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against Phospho-CCND1 (Ser90). Recognizes Phospho-CCND1 (Ser90) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-CCND1 (Ser90). Recognizes Phospho-CCND1 (Ser90) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Histone H3K27me3. Recognizes Histone H3K27me3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF, IP, ChIP;WB:1:500-1:2000, IHC:1:50-1:200, IF:1:50-1:200, IP:1:50-1:200, ChIP:1:50-1:200
Description: A polyclonal antibody against Histone H3K27me3. Recognizes Histone H3K27me3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF, IP, ChIP;WB:1:500-1:2000, IHC:1:50-1:200, IF:1:50-1:200, IP:1:50-1:200, ChIP:1:50-1:200
Description: A polyclonal antibody against MYOM1. Recognizes MYOM1 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against MYOM1. Recognizes MYOM1 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against ADD3. Recognizes ADD3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against ADD3. Recognizes ADD3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against TP53 (Ab-315). Recognizes TP53 (Ab-315) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against TP53 (Ab-315). Recognizes TP53 (Ab-315) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against PRLR. Recognizes PRLR from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against PRLR. Recognizes PRLR from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against PPP2R3C. Recognizes PPP2R3C from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PPP2R3C. Recognizes PPP2R3C from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against BAGE2. Recognizes BAGE2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against BAGE2. Recognizes BAGE2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against PIK3R1/PIK3R3 (Ab-467/199). Recognizes PIK3R1/PIK3R3 (Ab-467/199) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against PIK3R1/PIK3R3 (Ab-467/199). Recognizes PIK3R1/PIK3R3 (Ab-467/199) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against MAP2K1 (Ab-291). Recognizes MAP2K1 (Ab-291) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:200
Description: A polyclonal antibody against MAP2K1 (Ab-291). Recognizes MAP2K1 (Ab-291) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:200
Description: A polyclonal antibody against Phospho-HSF1 (Ser307). Recognizes Phospho-HSF1 (Ser307) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:1000, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-HSF1 (Ser307). Recognizes Phospho-HSF1 (Ser307) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:1000, IF:1:100-1:200
Description: A polyclonal antibody against ASCL2. Recognizes ASCL2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against ASCL2. Recognizes ASCL2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against HNRNPC. Recognizes HNRNPC from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against HNRNPC. Recognizes HNRNPC from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against GZMH. Recognizes GZMH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:3000, IF:1:100-1:500
Description: A polyclonal antibody against GZMH. Recognizes GZMH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:3000, IF:1:100-1:500
Description: A polyclonal antibody against Phospho-SYT1 (Ser309). Recognizes Phospho-SYT1 (Ser309) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:200
Description: A polyclonal antibody against Phospho-SYT1 (Ser309). Recognizes Phospho-SYT1 (Ser309) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:200
Description: A polyclonal antibody against NRSN1. Recognizes NRSN1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against NRSN1. Recognizes NRSN1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against RABL2A. Recognizes RABL2A from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against RABL2A. Recognizes RABL2A from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against HDAC3. Recognizes HDAC3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against HDAC3. Recognizes HDAC3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:100, IF:1:100-1:500
Description: A polyclonal antibody against AKR1A1. Recognizes AKR1A1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against AKR1A1. Recognizes AKR1A1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CLCN4. Recognizes CLCN4 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:200, IF:1:100-1:200
Description: A polyclonal antibody against CLCN4. Recognizes CLCN4 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:3000, IHC:1:50-1:200, IF:1:100-1:200
Description: A polyclonal antibody against ATF1. Recognizes ATF1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:3000, IF:1:100-1:500
Description: A polyclonal antibody against ATF1. Recognizes ATF1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:3000, IF:1:100-1:500
Description: A polyclonal antibody against Phospho-MEF2A (Ser408). Recognizes Phospho-MEF2A (Ser408) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-MEF2A (Ser408). Recognizes Phospho-MEF2A (Ser408) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against WISP2. Recognizes WISP2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against WISP2. Recognizes WISP2 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-GRIN2B (Tyr1474). Recognizes Phospho-GRIN2B (Tyr1474) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:1000, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-GRIN2B (Tyr1474). Recognizes Phospho-GRIN2B (Tyr1474) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:1000, IF:1:100-1:200
Description: A polyclonal antibody against PMAIP1. Recognizes PMAIP1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against PMAIP1. Recognizes PMAIP1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-ZAP70 (Tyr319). Recognizes Phospho-ZAP70 (Tyr319) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:100, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-ZAP70 (Tyr319). Recognizes Phospho-ZAP70 (Tyr319) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:100, IF:1:100-1:200
Description: A polyclonal antibody against RPS4X. Recognizes RPS4X from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:3000, IF:1:100-1:500
Description: A polyclonal antibody against RPS4X. Recognizes RPS4X from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IF;WB:1:500-1:3000, IF:1:100-1:500
Description: A polyclonal antibody against TUBB3. Recognizes TUBB3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against TUBB3. Recognizes TUBB3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against NT5C1B. Recognizes NT5C1B from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:500
Description: A polyclonal antibody against NT5C1B. Recognizes NT5C1B from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:500
Description: A polyclonal antibody against AKT1 (Ab-450). Recognizes AKT1 (Ab-450) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:200, IF:1:100-1:200
Description: A polyclonal antibody against AKT1 (Ab-450). Recognizes AKT1 (Ab-450) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:200, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-MAP2K4 (Ser80). Recognizes Phospho-MAP2K4 (Ser80) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:100, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-MAP2K4 (Ser80). Recognizes Phospho-MAP2K4 (Ser80) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:100, IF:1:100-1:200
Description: A polyclonal antibody against RAB29. Recognizes RAB29 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against RAB29. Recognizes RAB29 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against KIR2DL5B. Recognizes KIR2DL5B from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:500
Description: A polyclonal antibody against KIR2DL5B. Recognizes KIR2DL5B from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:500
Description: A polyclonal antibody against IKZF3. Recognizes IKZF3 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against IKZF3. Recognizes IKZF3 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against USP13. Recognizes USP13 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against USP13. Recognizes USP13 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against ABCD4. Recognizes ABCD4 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against ABCD4. Recognizes ABCD4 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against AATF. Recognizes AATF from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against AATF. Recognizes AATF from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against MOB1B. Recognizes MOB1B from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against MOB1B. Recognizes MOB1B from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PLG. Recognizes PLG from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PLG. Recognizes PLG from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against OXR1. Recognizes OXR1 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against OXR1. Recognizes OXR1 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against NBPF5P. Recognizes NBPF5P from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against NBPF5P. Recognizes NBPF5P from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against KCNJ4. Recognizes KCNJ4 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against KCNJ4. Recognizes KCNJ4 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CBX5 (Ab-92). Recognizes CBX5 (Ab-92) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against CBX5 (Ab-92). Recognizes CBX5 (Ab-92) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-BCL2 (Ser87). Recognizes Phospho-BCL2 (Ser87) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-BCL2 (Ser87). Recognizes Phospho-BCL2 (Ser87) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against CHFR. Recognizes CHFR from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CHFR. Recognizes CHFR from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against AQP12A. Recognizes AQP12A from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against AQP12A. Recognizes AQP12A from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-FANCG (Ser383). Recognizes Phospho-FANCG (Ser383) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-FANCG (Ser383). Recognizes Phospho-FANCG (Ser383) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PRIM1. Recognizes PRIM1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PRIM1. Recognizes PRIM1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against ASH2L. Recognizes ASH2L from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against ASH2L. Recognizes ASH2L from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against ADCK3. Recognizes ADCK3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against ADCK3. Recognizes ADCK3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-IGF2R (Ser2409). Recognizes Phospho-IGF2R (Ser2409) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-IGF2R (Ser2409). Recognizes Phospho-IGF2R (Ser2409) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-NFATC3 (Ser165). Recognizes Phospho-NFATC3 (Ser165) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-NFATC3 (Ser165). Recognizes Phospho-NFATC3 (Ser165) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-MAPK14 (Tyr322). Recognizes Phospho-MAPK14 (Tyr322) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-MAPK14 (Tyr322). Recognizes Phospho-MAPK14 (Tyr322) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against ABHD11. Recognizes ABHD11 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against ABHD11. Recognizes ABHD11 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against TNFRSF1A. Recognizes TNFRSF1A from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against TNFRSF1A. Recognizes TNFRSF1A from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against MARCH4. Recognizes MARCH4 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against MARCH4. Recognizes MARCH4 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;IHC:1:50-1:100
Description: A polyclonal antibody against SLC9A9. Recognizes SLC9A9 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against SLC9A9. Recognizes SLC9A9 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against FAF1. Recognizes FAF1 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against FAF1. Recognizes FAF1 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CNTN6. Recognizes CNTN6 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against CNTN6. Recognizes CNTN6 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against SIRPA. Recognizes SIRPA from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against SIRPA. Recognizes SIRPA from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against CCNB1 (Ab-147). Recognizes CCNB1 (Ab-147) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:200, IF:1:100-1:200
Description: A polyclonal antibody against CCNB1 (Ab-147). Recognizes CCNB1 (Ab-147) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC, IF;WB:1:500-1:1000, IHC:1:50-1:200, IF:1:100-1:200
Description: A polyclonal antibody against Phospho-CXCR2 (Ser347). Recognizes Phospho-CXCR2 (Ser347) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-CXCR2 (Ser347). Recognizes Phospho-CXCR2 (Ser347) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against DGKA. Recognizes DGKA from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against DGKA. Recognizes DGKA from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PCNA. Recognizes PCNA from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against PCNA. Recognizes PCNA from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against STAT2 (Ab-690). Recognizes STAT2 (Ab-690) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:200
Description: A polyclonal antibody against STAT2 (Ab-690). Recognizes STAT2 (Ab-690) from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:200
Description: A polyclonal antibody against Phospho-NFKBIE (Ser22). Recognizes Phospho-NFKBIE (Ser22) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-NFKBIE (Ser22). Recognizes Phospho-NFKBIE (Ser22) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against PDXDC1. Recognizes PDXDC1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PDXDC1. Recognizes PDXDC1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-BCAR1 (Tyr410). Recognizes Phospho-BCAR1 (Tyr410) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-BCAR1 (Tyr410). Recognizes Phospho-BCAR1 (Tyr410) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:1000, IHC:1:50-1:100
Description: A polyclonal antibody against COL4A1. Recognizes COL4A1 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against COL4A1. Recognizes COL4A1 from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-MDM4 (Ser367). Recognizes Phospho-MDM4 (Ser367) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against Phospho-MDM4 (Ser367). Recognizes Phospho-MDM4 (Ser367) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;WB:1:500-1:3000, IHC:1:50-1:100
Description: A polyclonal antibody against FADD (Ab-191). Recognizes FADD (Ab-191) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against FADD (Ab-191). Recognizes FADD (Ab-191) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-FBXL3 (Ser320). Recognizes Phospho-FBXL3 (Ser320) from Humann, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against Phospho-FBXL3 (Ser320). Recognizes Phospho-FBXL3 (Ser320) from Humann, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against EFNA3. Recognizes EFNA3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against EFNA3. Recognizes EFNA3 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against Phospho-IKBKB (Tyr199). Recognizes Phospho-IKBKB (Tyr199) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:200
Description: A polyclonal antibody against Phospho-IKBKB (Tyr199). Recognizes Phospho-IKBKB (Tyr199) from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, IF;IF:1:100-1:200
Description: A polyclonal antibody against OSR2. Recognizes OSR2 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against OSR2. Recognizes OSR2 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
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Familial dilated cardiomyopathy brought on by a novel variant within the Lamin A/C gene: a case report
Background: Familial dilated cardiomyopathy (FDCM) is mostly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been recognized to be related to DCM, conductive system problems, kind 2 Emery-Dreifuss muscular dystrophy and a number of other different problems. Right here, we reported a novel variant within the LMNA gene that is likely to be associated to FDCM.
Case presentation: A 30-year-old younger man was hospitalized for chest tightness, excessive fatigue, palpitation and impaired exercise tolerance. He had scientific traits together with cardiac dilatation, atrial tachyarrhythmia, extreme conductive system problems, and dyskinesia of each higher limbs and the neck. Genetic sequence evaluation indicated that the affected person carried a novel c.1325 T>C heterozygous LMNA gene variant. Catheter ablation and cardiac resynchronization remedy with pacing perform (CRT-P) have been carried out to deal with the arrhythmia.
Conclusion: The variant c.1325 T>C is a novel variant within the LMNA gene that has not been beforehand reported. Younger sufferers with DCM, conductive system problems and skeletal myopathy ought to be alert to the potential for LMNA gene variant. Cardiac resynchronization remedy (CRT) could also be an affordable selection for affected person carrying a LMNA gene variant with third-degree atrioventricular block even when the left ventricular ejection fraction is preserved with the intention to stop the deterioration of cardiac perform brought on by proper ventricular pacing dependency.
Genetic evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal: a section II of Nepal pediatric ocular illnesses research
Background: Genetic eye illnesses represent a big and heterogeneous group of childhood ocular morbidity. Particular person illnesses could trigger a number of structural anomalies and developmental options. Nepal Pediatric Ocular Illness Research (NPODS) was a population-based epidemiological research carried out throughout three ecological areas of Nepal to find out the prevalence and etiology of childhood ocular morbidity and blindness. In Part II of this research, genetic evaluation was carried out for kids who have been discovered to have congenital ocular anomalies.
Methodology: It was a cross sectional descriptive research. A complete of 10,270 youngsters throughout three totally different ecological areas in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of kids with ocular abnormalities, 30 have been considered congenital in nature. Focused genetic evaluation, together with genotyping for genes particular to presenting phenotype, was carried out for 25 youngsters utilizing serum samples.
Outcomes: Out of 25 youngsters, 18 had significant genetic outcomes. Evaluation revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in a single participant amongst 10 with congenital ptosis and one other missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in a single participant amongst Three with microphthalmos.
Conclusion: The research is first of its sort from Nepal and mutant genes have been distinctive to Nepalese Inhabitants. Additional evaluation of genetic components is essential to higher perceive genetic affiliation with ocular illnesses and situations. This helps additional in genetic counseling and doubtless gene remedy to forestall blindness from these situations.
Description: The substance Doxorubicin Hydrochloride is a autophagy inducer. It is synthetically produced and has a purity of >98%. The pure substance is red solid which is soluble in water (50 mM)..
Description: The substance Doxorubicin Hydrochloride is a autophagy inducer. It is synthetically produced and has a purity of >98%. The pure substance is red solid which is soluble in water (50 mM)..
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: This ADC product is comprised of an anti-TNFRSF8 monoclonal antibody (cCA10) conjugated via a β-glucuronide linker to a doxorubicin propyloxazoline (DPO)
Human HeLa (Cervix Adenocarcinoma) Cell Nuclear Extract - Doxorubicin Stimulated
