Publications

Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CHW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics in Medicine.Genet Med. 2022 Dec 6;25(3):100351. PMID: 36571463. LISTEN TO PODCAST ON THIS ARTICLE HERE.

Ullah I, Ottlewski I, Shehzad W, Riaz A, Ijaz S, Tufail A, Ammara H, Mane S, Shril S, Hildebrandt F, Zahoor M, Majmundar AJ. Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC Medical Genomics. 2021 Nov 12; 14(1): 266. PubMed PMID: 34772415; PubMed Central PMCID: PMC8588693.

Weng PL*, Majmundar AJ*, Khan K*, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 Feb 4;108(2):357-367. *Co-first authorship.

Majmundar AJ*, Buerger F*, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 Jan 1;7(1):eabe1386. *Co-first authorship.

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. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet. 2019 Mar;138(3):211-219. PMCID: PMC6426152 *Co-first authorship.

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. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney International. 2018 Jan; 93(1):204-21. PMCID: PMC5750088 *Co-first authorship.

Majmundar AJ, Lee DSM, Skuli N, Mesquita RC, Kim MN, Yodh AG, Nguyen-McCarty M, Li B, and Simon MC. HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo. Development. 2015 July; 142(14). PMCID: PMC4510864

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.  Endothelial Hypoxia Inducible Factor-2alpha (HIF-2α) regulates murine pathological angiogenesis and revascularization processes. The Journal of Clinical Investigation. 2012 Apr 2;122(4):1427-43. PMCID: PMC3314446

Majmundar AJ, Skuli N, Mesquita RC, Kim MN, Yodh AG, Nguyen-McCarty M, Simon MC. O2 regulates skeletal muscle progenitor differentiation through PI3K/AKT signaling. Molecular and Cellular Biology. 2012 Jan;32(1):36-49. PMCID: PMC3255700               

Majmundar AJ, Wong WJ, Simon MC. Hypoxia-Inducible Factors and the Response to Hypoxic Stress. Molecular Cell. 2010 Oct 22;40(2):294-309. Review. PMCID: PMC3143508

View all Majmundar Lab publications at the National Library of Medicine website.