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Items: 37

1.

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.

Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D.

Kidney Int. 2019 Jul 10. pii: S0085-2538(19)30703-3. doi: 10.1016/j.kint.2019.06.016. [Epub ahead of print]

PMID:
31472902
2.

Where Do People Vape? Insights from Twitter Data.

Majmundar A, Allem JP, Cruz TB, Unger JB.

Int J Environ Res Public Health. 2019 Aug 23;16(17). pii: E3056. doi: 10.3390/ijerph16173056.

3.

E-liquid-related posts to Twitter in 2018: Thematic analysis.

Allem JP, Majmundar A, Dharmapuri L, Cruz TB, Unger JB.

Addict Behav Rep. 2019 Jun 7;10:100196. doi: 10.1016/j.abrep.2019.100196. eCollection 2019 Dec.

4.

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A.

Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y.

5.

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F.

Hum Genet. 2019 Oct;138(10):1105-1115. doi: 10.1007/s00439-019-02042-4. Epub 2019 Jun 22.

PMID:
31230195
6.

Relationship between social media engagement and e-cigarette policy support.

Majmundar A, Chou CP, Cruz TB, Unger JB.

Addict Behav Rep. 2018 Dec 14;9:100155. doi: 10.1016/j.abrep.2018.100155. eCollection 2019 Jun.

7.

Tobacco Use Behaviors, Attitudes, and Demographic Characteristics of Tobacco Opinion Leaders and Their Followers: Twitter Analysis.

Chu KH, Majmundar A, Allem JP, Soto DW, Cruz TB, Unger JB.

J Med Internet Res. 2019 Jun 4;21(6):e12676. doi: 10.2196/12676.

8.

Characterising KandyPens-related posts to Instagram: implications for nicotine and cannabis use.

Majmundar A, Kirkpatrick M, Cruz TB, Unger JB, Allem JP.

Tob Control. 2019 May 30. pii: tobaccocontrol-2019-055006. doi: 10.1136/tobaccocontrol-2019-055006. [Epub ahead of print]

PMID:
31147484
9.

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.

Jobst-Schwan T, Hoogstraten CA, Kolvenbach CM, Schmidt JM, Kolb A, Eddy K, Schneider R, Ashraf S, Widmeier E, Majmundar AJ, Hildebrandt F.

Kidney Int. 2019 May;95(5):1079-1090. doi: 10.1016/j.kint.2018.12.026. Epub 2019 Mar 5.

PMID:
31010479
10.

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.

Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, Jobst-Schwan T, Ahmad M, Sayer JA, Gee HY, Halbritter J, Knöpfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F.

Hum Genet. 2019 Mar;138(3):211-219. doi: 10.1007/s00439-019-01978-x. Epub 2019 Feb 18.

PMID:
30778725
11.

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F.

J Am Soc Nephrol. 2019 Feb;30(2):201-215. doi: 10.1681/ASN.2018060575. Epub 2019 Jan 17.

PMID:
30655312
12.

E-cigarettes Are Being Marketed as "Vitamin Delivery" Devices.

Basáñez T, Majmundar A, Cruz TB, Allem JP, Unger JB.

Am J Public Health. 2019 Feb;109(2):194-196. doi: 10.2105/AJPH.2018.304804. No abstract available.

PMID:
30649935
13.

Are electric scooters promoted on social media with safety in mind? A case study on Bird's Instagram.

Allem JP, Majmundar A.

Prev Med Rep. 2018 Nov 23;13:62-63. doi: 10.1016/j.pmedr.2018.11.013. eCollection 2019 Mar.

14.

Customer Purchase Intentions and Choice in Food Retail Environments: A Scoping Review.

Castro IA, Majmundar A, Williams CB, Baquero B.

Int J Environ Res Public Health. 2018 Nov 8;15(11). pii: E2493. doi: 10.3390/ijerph15112493. Review.

15.

The Why We Retweet scale.

Majmundar A, Allem JP, Boley Cruz T, Unger JB.

PLoS One. 2018 Oct 18;13(10):e0206076. doi: 10.1371/journal.pone.0206076. eCollection 2018.

16.

Vaping associated with healthy food words: A content analysis of Twitter.

Basáñez T, Majmundar A, Cruz TB, Unger JB.

Addict Behav Rep. 2018 Sep 24;8:147-153. doi: 10.1016/j.abrep.2018.09.007. eCollection 2018 Dec.

17.

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, Fessi I, Rao J, Airik M, Gee HY, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven AT, Nakayama M, Shril S, Braun DA, Hildebrandt F.

Nephrol Dial Transplant. 2019 Mar 1;34(3):474-485. doi: 10.1093/ndt/gfy050.

18.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.

J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

19.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F.

J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24.

20.

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F.

Am J Med Genet A. 2018 Nov;176(11):2460-2465. doi: 10.1002/ajmg.a.40489. Epub 2018 Aug 6.

PMID:
30079490
21.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F.

J Am Soc Nephrol. 2018 Aug;29(8):2123-2138. doi: 10.1681/ASN.2017121312. Epub 2018 Jun 29.

22.

Talking about tobacco on Twitter is associated with tobacco product use.

Unger JB, Urman R, Cruz TB, Majmundar A, Barrington-Trimis J, Pentz MA, McConnell R.

Prev Med. 2018 Sep;114:54-56. doi: 10.1016/j.ypmed.2018.06.006. Epub 2018 Jun 10.

23.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F.

Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.

24.

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, El Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F.

Nephrol Dial Transplant. 2019 Mar 1;34(3):485-493. doi: 10.1093/ndt/gfy028.

25.

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.

Jobst-Schwan T, Schmidt JM, Schneider R, Hoogstraten CA, Ullmann JFP, Schapiro D, Majmundar AJ, Kolb A, Eddy K, Shril S, Braun DA, Poduri A, Hildebrandt F.

PLoS One. 2018 Jan 18;13(1):e0191503. doi: 10.1371/journal.pone.0191503. eCollection 2018.

26.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

27.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F.

Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12.

28.

HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo.

Majmundar AJ, Lee DS, Skuli N, Mesquita RC, Kim MN, Yodh AG, Nguyen-McCarty M, Li B, Simon MC.

Development. 2015 Jul 15;142(14):2405-12. doi: 10.1242/dev.123026. Epub 2015 Jul 7.

29.

Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes.

Skuli N, Majmundar AJ, Krock BL, Mesquita RC, Mathew LK, Quinn ZL, Runge A, Liu L, Kim MN, Liang J, Schenkel S, Yodh AG, Keith B, Simon MC.

J Clin Invest. 2012 Apr;122(4):1427-43. doi: 10.1172/JCI57322. Epub 2012 Mar 19.

30.

O(2) regulates skeletal muscle progenitor differentiation through phosphatidylinositol 3-kinase/AKT signaling.

Majmundar AJ, Skuli N, Mesquita RC, Kim MN, Yodh AG, Nguyen-McCarty M, Simon MC.

Mol Cell Biol. 2012 Jan;32(1):36-49. doi: 10.1128/MCB.05857-11. Epub 2011 Oct 17.

31.

Hemodynamic and metabolic diffuse optical monitoring in a mouse model of hindlimb ischemia.

Mesquita RC, Skuli N, Kim MN, Liang J, Schenkel S, Majmundar AJ, Simon MC, Yodh AG.

Biomed Opt Express. 2010 Oct 15;1(4):1173-1187.

32.

Hypoxia-inducible factors and the response to hypoxic stress.

Majmundar AJ, Wong WJ, Simon MC.

Mol Cell. 2010 Oct 22;40(2):294-309. doi: 10.1016/j.molcel.2010.09.022. Review.

33.

Successful use of omalizumab for prevention of fire ant anaphylaxis.

Tartibi HM, Majmundar AR, Khan DA.

J Allergy Clin Immunol. 2010 Sep;126(3):664-5. doi: 10.1016/j.jaci.2010.06.014. Epub 2010 Jul 31. No abstract available.

PMID:
20673977
34.

HIF2alpha inhibition promotes p53 pathway activity, tumor cell death, and radiation responses.

Bertout JA, Majmundar AJ, Gordan JD, Lam JC, Ditsworth D, Keith B, Brown EJ, Nathanson KL, Simon MC.

Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14391-6. doi: 10.1073/pnas.0907357106. Epub 2009 Aug 12.

35.

Epigenetic downregulation of the DNA repair gene MED1/MBD4 in colorectal and ovarian cancer.

Howard JH, Frolov A, Tzeng CW, Stewart A, Midzak A, Majmundar A, Godwin A, Heslin M, Bellacosa A, Arnoletti JP.

Cancer Biol Ther. 2009 Jan;8(1):94-100. Epub 2009 Jan 20.

36.

Multiallergen nasal challenges in nonallergic rhinitis.

Wierzbicki DA, Majmundar AR, Schull DE, Khan DA.

Ann Allergy Asthma Immunol. 2008 Jun;100(6):533-7. doi: 10.1016/S1081-1206(10)60051-8.

PMID:
18592815
37.

Combined millimeter wave and cyclophosphamide therapy of an experimental murine melanoma.

Logani MK, Bhanushali A, Anga A, Majmundar A, Szabo I, Ziskin MC.

Bioelectromagnetics. 2004 Oct;25(7):516-23.

PMID:
15376243

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