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| 1 | Recent advances in elucidating the genetics of common variable immunodeficiency显示文摘Common variable immunodeficiency disorders(CVID),a heterogeneous group of inborn errors of immunity,is the most common symptomatic primary immunodeficiency disorder.Patients with CVID have highly variable clinical presentation.With the advent of whole genome sequencing and genome wide association studies(GWAS),there has been a remarkable improvement in understanding the genetics of CVID.This has also helped in understanding the pathogenesis of CVID and has drastically improved the management of these patients.A multiomics approach integrating the DNA sequencing along with RNA sequencing,proteomics,epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways and novel therapeutic targets.In this review,we elaborate various techniques that have helped in understanding the genetics of CVID. | Vaishali Aggarwal Aaqib Zaffar Banday Ankur Kumar Jindal Jhumki Das Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 4 |
| 2 | Evaluation of biomarkers, genetic mutations, and epigenetic modifications in early diagnosis of pancreatic cancer显示文摘BACKGROUND Pancreatic cancer(PC)is one of the deadliest malignancies with an alarming mortality rate.Despite significant advancement in diagnostics and therapeutics,early diagnosis remains elusive causing poor prognosis,marred by mutations and epigenetic modifications in key genes which contribute to disease progression.AIM To evaluate the various biological tumor markers collectively for early diagnosis which could act as prognostic biomarkers and helps in future therapeutics of PC in Kashmir valley.METHODS A total of 50 confirmed PC cases were included in the study to evaluate the levels of carbohydrate antigen 19-9(CA 19-9),tissue polypeptide specific antigen(TPS),carcinoembryonic antigen(CEA),vascular endothelial growth factor-A(VEGF-A),and epidermal growth factor receptor(EGFR).Mutational analysis was performed to evaluate the mutations in Kirsten rat sarcoma(KRAS),Breast cancer type 2(BRCA-2),and deleted in pancreatic cancer-4(DPC-4)genes.However,epigenetic modifications(methylation of CpG islands)were performed in the promoter regions of cyclin-dependent kinase inhibitor 2A(p16;CDKN2A),MutL homolog 1(hMLH1),and Ras association domain-containing protein 1(RASSF1A)genes.RESULTS We found significantly elevated levels of biological markers CA 19-9(P≤0.05),TPS(P≤0.05),CEA(P≤0.001),and VEGF(P≤0.001).Molecular genetic analysis revealed that KRAS gene mutation is predominant in codon 12(16 subjects,P≤0.05),and 13(12 subjects,P≤0.05).However,we did not find a mutation in DPC-4(1203G>T)and BRCA-2(617delT)genes.Furthermore,epigenetic modification revealed that CpG methylation in 21(P≤0.05)and 4 subjects in the promoter regions of the p16 and hMLH1 gene,respectively.CONCLUSION In conclusion,CA 19-9,TPS,CEA,and VEGF levels were significantly elevated and collectively have potential as diagnostic and prognostic markers in PC.Global data of mutation in the KRAS gene commonly in codon 12 and rare in codon 13 could augment the predisposition towards PC.Additionally,methylation of the p16 gene could also modulate transcription of genes thereby increasing the predisposition and susceptibility towards PC. | Bilal Rah Manzoor Ahmad Banday Gh Rasool Bhat Omar J Shah Humira Jeelani Fizalah Kawoosa Tahira Yousuf Dil Afroze | 2021 | World Journal of Gastroenterology2021，27，36： | 2 |
| 3 | 一例罕见的子宫原始神经外胚层瘤病例报道(英文)显示文摘Primitive neuroectodermal tumor (PNET) of uterus is the rare of the rarest among the tumors of female genital tract. We herein reported a 32 years old female operated for lower abdominal lump,which was diagnosed,as PNET later confirmed by immunohistochemistry (IHC). She was lost to follow-up and presented 10 months later with recurrence. She was treated with cyclical combination chemotherapy followed by definitive surgery and is in complete remission at present. | Syed Nisar Ahmad Shiekh Aejaz Aziz Rangreze Imran Manzoor Ahmad Banday Gul Mohammad A.R.Lone Parveen Reshi Nisar Ahmad Wani Shaheena Parveen | 2010 | The Chinese-German Journal of Clinical Oncology2010，9，6： | 2 |
| 4 | A quantitative EEG method for detecting post clamp changes during carotid endarterectomy 显示文摘 | Mishra M Banday M Derakhshani R | 2011 | J Clin Monit Comput2011，25，5： | 1 |
| 5 | Studies on novel D-ring substituted steroidal pyrazolines as potential anticancer agents 显示文摘 | BANDAY A H MIR B P LONE I H | 2010 | Steroids2010，75，12： | 1 |
| 6 | Rosiglitazone treatment restores renal dopamine receptor function in obese Zucker rats显示文摘 | Umrani DN Banday AA Hussain T | 2002 | Hypertension2002，40，6： | 1 |
| 7 | Arg399Gln polymorphism of XRCC1 gene and risk of colorectal cancer in Kashmir: A case control study 显示文摘 | Nissar S Lone TA Banday MZ | 2013 | OncolLett2013，5，3： | 1 |
| 8 | Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism显示文摘 | Yamada S Bandai S Masutani K | 2010 | Clin Exp Nephrol2010，14，2： | 1 |
| 9 | Determination of perfluorocarboxylic acids by gas-liquid chromatography in rat tissues 显示文摘 | KUDO N BANDAI N KAWASHIMA Y | 1998 | Toxicol Lett1998，99，： | 1 |
| 10 | Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism 显示文摘 | Yamada S Bandai S Masutani K | 2010 | Clin Exp Nephrol2010，14，： | 1 |
| 11 | Oxidative stress-induced renal angiotensin AT1 receptor upregulation causes increased stimulation of sodium transporters and hypertension显示文摘 | Banday A A Lokhandwala M F | 2008 | Am J Physiol Renal Physiol2008，295，3： | 1 |
| 12 | Sugiura procedure for management of variceal bleeding in Japan显示文摘 | Yasuo Idezuki M.D. Norihiro Kokudo M.D. Kensho Sanjo M.D. Yasutsugu Bandai M.D | 1994 | World Journal of Surgery1994，，2： | 1 |
| 13 | Determination of perfluorocarboxylic acids by gas-liquid chromatography in rat tissues显示文摘 | Kudo N Bandai B Kawashima Y | 1998 | Toxicol Lett1998，99，： | 1 |
| 14 | Insulin treatment enhances AT1 receptor function in OK cells显示文摘 | Banday A A Siddiqui A H Menezes M M | 2005 | Am J Physiol Renal Physiol2005，288，6： | 1 |
| 15 | Determination of perfluorocarboxylic acids by gas-liquid chromatography in rat tissues 显示文摘 | Kudo N Bandai N Kawashima Y | 2002 | Toxicol Lett2002，99，3： | 1 |
| 16 | Synthesis and Antimicrobial Studies of Chalconyl Pregnenolones显示文摘 | Banday A H Zargar M I Ganaie B A | 2011 | Steroids2011，76，12： | 1 |
| 17 | Safe intraabdominal pressure of carbon dioxide pneumoperitoneum during laparoscopic surgery 显示文摘 | Ishizaki Y Bandai Y Shimomura K | 1993 | Surgery1993，114，3： | 1 |
| 18 | Effect of harvest dates,preharvest calcium sprays and storage period on physico-chemical characteristics of pear显示文摘 | Bhat M Y Ahsan H Banday F A | 2012 | Agric Res Dev2012，2，4： | 1 |
| 19 | Studies on novel D-ring substituted steroidal pyrazolines as potential anticancer agents显示文摘 | Banday A H | 2010 | Steroids2010，75，12： | 1 |
| 20 | Synthesis and antimi- crobial studies of chalconyl pregnenolones 显示文摘 | Banday A H Zargar M I Ganaie B A | 2011 | Steroids2011，76，12： | 1 |
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