U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief


A selection of recent and significant publications can be viewed below.

Du C, Ma X, Meruvu S, Hugendubler L, Mueller E. The adipogenic transcriptional cofactor ZNF638 interacts with splicing regulators and influences alternative splicing. J Lipid Res. 2014 Jul 14; 55 (2014 Jul 14; 55; 9):1886-96. [Full Text/Abstract]
Vassilopoulos A, Xiao C, Chisholm C, Chen W, Xu X, Lahusen TJ, Bewley C, Deng CX. Synergistic Therapeutic Effect of Cisplatin and Phosphatidylinositol 3-Kinase (PI3K) Inhibitors in Cancer Growth and Metastasis of Brca1 Mutant Tumors. J Biol Chem. 2014 Jul 8; 289 (35; 289; 2014 Jul 8):24202-14. [Full Text/Abstract]
Park JW, Jang SH, Park DM, Lim NJ, Deng C, Kim DY, Green JE, Kim HK. Cooperativity of E-cadherin and Smad4 loss to promote diffuse-type gastric adenocarcinoma and metastasis. Mol Cancer Res. 2014 Aug; 12 (8; 2014 Aug; 12):1088-99. [Full Text/Abstract]
Fortin J, Boehm U, Deng CX, Treier M, Bernard DJ. Follicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2. FASEB J. 2014 Aug; 28 (28; 8; 2014 Aug):3396-410. [Full Text/Abstract]
Chen BY, Huang CH, Lin YH, Huang CC, Deng CX, Hsu LC. The K898E germline variant in the PP1-binding motif of BRCA1 causes defects in DNA Repair. Sci Rep. 2014 Jul 24; 4 (2014 Jul 24; 4):5812. [Full Text/Abstract]
Zhang P, Tu B, Wang H, Cao Z, Tang M, Zhang C, Gu B, Li Z, Wang L, Yang Y, Zhao Y, Wang H, Luo J, Deng CX, Gao B, Roeder RG, Zhu WG. Tumor suppressor p53 cooperates with SIRT6 to regulate gluconeogenesis by promoting FoxO1 nuclear exclusion. Proc Natl Acad Sci U S A. 2014 Jul 22; 111 (111; 29; 2014 Jul 22):10684-9. [Full Text/Abstract]
Xu Y, Li F, Lv L, Li T, Zhou X, Deng C, Guan KL, Lei QY, Xiong Y. Oxidative stress activates SIRT2 to deacetylate and stimulate phosphoglycerate mutase. Cancer Res. 2014 Jul 1; 74 (74; 2014 Jul 1; 13):3630-42. [Full Text/Abstract]
Rao RR, Ceccarelli J, Vigen ML, Gudur M, Singh R, Deng CX, Putnam AJ, Stegemann JP. Effects of hydroxyapatite on endothelial network formation in collagen/fibrin composite hydrogels in vitro and in vivo. Acta Biomater. 2014 Jul; 10 (7; 10; 2014 Jul):3091-7. [Full Text/Abstract]
Qi H, Jin M, Duan Y, Du X, Zhang Y, Ren F, Wang Y, Tian Q, Wang X, Wang Q, Zhu Y, Xie Y, Liu C, Cao X, Mishina Y, Chen D, Deng CX, Chang Z, Chen L. FGFR3 induces degradation of BMP type I receptor to regulate skeletal development. Biochim Biophys Acta. 2014 Jul; 1843 (7; 1843; 2014 Jul):1237-1247. [Full Text/Abstract]
Willis NA, Chandramouly G, Huang B, Kwok A, Follonier C, Deng C, Scully R. BRCA1 controls homologous recombination at Tus/Ter-stalled mammalian replication forks. Nature. 2014 Jun 26; 510 (510; 7506; 2014 Jun 26):556-9. [Full Text/Abstract]
Vazquez-Ortiz G, Chisholm C, Xu X, Lahusen TJ, Li C, Sakamuru S, Huang R, Thomas CJ, Xia M, Deng C. Drug repurposing screen identifies lestaurtinib amplifies the ability of the poly (ADP-ribose) polymerase 1 inhibitor AG14361 to kill breast cancer associated gene-1 mutant and wild type breast cancer cells. Breast Cancer Res. 2014 Jun 24; 16 (16; 2014 Jun 24; 3):R67. [Full Text/Abstract]
Fan Z, Chen D, Deng CX. Characterization of the Dynamic Activities of a Population of Microbubbles Driven by Pulsed Ultrasound Exposure in Sonoporation. Ultrasound Med Biol. 2014 Jun; 40 (40; 6; 2014 Jun):1260-72. [Full Text/Abstract]
Brubaker L, Brincat C, Mueller E. Are We Satisfied? Perspective on Five-year Outcomes of Midurethral Slings. Eur Urol. 2014 Jun; 65 (6; 65; 2014 Jun):1115-6. [Full Text/Abstract]
Ryu J, Galan AK, Xin X, Dong F, Abdul-Ghani MA, Zhou L, Wang C, Li C, Holmes BM, Sloane LB, Austad SN, Guo S, Musi N, Defronzo RA, Deng C, White MF, Liu F, Dong LQ. APPL1 Potentiates Insulin Sensitivity by Facilitating the Binding of IRS1/2 to the Insulin Receptor. Cell Rep. 2014 May 22; 7 (2014 May 22; 7; 4):1227-38. [Full Text/Abstract]
Mueller EM, Panitz C, Hermann C, Pizzagalli DA. Prefrontal Oscillations during Recall of Conditioned and Extinguished Fear in Humans. J Neurosci. 34 (21; 34):7059-66. [Full Text/Abstract]
Abernethy MG, Davis C, Lowenstein L, Mueller ER, Brubaker L, Kenton K. Urethral sensation following reconstructive pelvic surgery. Int Urogynecol J. [Full Text/Abstract]
Novgorodov SA, Riley CL, Yu J, Borg KT, Hannun YA, Proia RL, Kindy MS, Gudz TI. Essential roles of neutral ceramidase and sphingosine in mitochondrial dysfunction due to traumatic brain injury. J Biol Chem. 2014 May 9; 289 (2014 May 9; 19; 289):13142-54. [Full Text/Abstract]
Mueller ER, Litman H, Rickey LR, Sirls L, Norton P, Wilson T, Moalli P, Albo M, Zimmern P. Comparison of flowrates and voided volumes during non-instrumented uroflowmetry and pressure-flow studies in women with stress incontinence. Neurourol Urodyn. [Full Text/Abstract]
Gadzinski JA, Sheran J, Garbe G, Fitzgerald G, Mueller E, Wagner S. The postendometrial ablation endometrium: reassessment with biopsy and ultrasonography. Obstet Gynecol. 2014 May; 123 Suppl 1 (123 Suppl 1; 2014 May):124S. [Full Text/Abstract]
Zyczynski HM, Sirls LT, Greer WJ, Rahn DD, Casiano E, Norton P, Kim HY, Brubaker L, Urinary Incontinence Treatment Network. Findings of universal cystoscopy at incontinence surgery and their sequelae. Am J Obstet Gynecol. 2014 May; 210 (210; 2014 May; 5):480.e1-8. [Full Text/Abstract]
Giannouli CC, Chandris P, Proia RL. Visualizing S1P-directed cellular egress by intravital imaging. Biochim Biophys Acta. 2014 May; 1841 (1841; 2014 May; 5):738-744. [Full Text/Abstract]
Kono M, Tucker AE, Tran J, Bergner JB, Turner EM, Proia RL. Sphingosine-1-phosphate receptor 1 reporter mice reveal receptor activation sites in vivo. J Clin Invest. 2014 May 1; 124 (124; 2014 May 1; 5):2076-86. [Full Text/Abstract]
Mueller EM, Burgdorf C, Chavanon ML, Schweiger D, Hennig J, Wacker J, Stemmler G. The COMT Val158Met polymorphism regulates the effect of a dopamine antagonist on the feedback-related negativity. Psychophysiology. [Full Text/Abstract]
Fan Z, Kumon RE, Deng CX. Mechanisms of microbubble-facilitated sonoporation for drug and gene delivery. Ther Deliv. 2014 Apr; 5 (4; 2014 Apr; 5):467-486. [Full Text/Abstract]
Bonzo JA, Brocker C, Jiang C, Wang RH, Deng CX, Gonzalez FJ. Hepatic sirtuin 1 is dispensable for fibrate-induced peroxisome proliferator-activated receptor-α function in vivo. Am J Physiol Endocrinol Metab. 2014 Apr 1; 306 (7; 2014 Apr 1; 306):E824-37. [Full Text/Abstract]
Vajda J, Mueller E, Bahret E. Dual salt mixtures in mixed mode chromatography with an immobilized tryptophan ligand influence the removal of aggregated monoclonal antibodies. Biotechnol J. 2014 Apr; 9 (4; 9; 2014 Apr):555-65. [Full Text/Abstract]
Htun P, Kan T, Mueller E, Pohle C, Schindler R, Geisler T, Gawaz M, Bocksch W, Fateh-Moghadam S. Haemodialysis impairs clopidogrel but not aspirin responsiveness in patients with end-stage renal disease. Results of a pilot study. Thromb Haemost. 2014 Apr 1; 111 (2014 Apr 1; 111; 4):662-9. [Full Text/Abstract]
Barber MD, Brubaker L, Burgio KL, Richter HE, Nygaard I, Weidner AC, Menefee SA, Lukacz ES, Norton P, Schaffer J, Nguyen JN, Borello-France D, Goode PS, Jakus-Waldman S, Spino C, Warren LK, Gantz MG, Meikle SF, Eunice Kennedy Shriver National Institute of Child Health and Human Development Pelvic Floor Disorders Network. Comparison of 2 transvaginal surgical approaches and perioperative behavioral therapy for apical vaginal prolapse: the OPTIMAL randomized trial. JAMA. 2014 Mar 12; 311 (10; 2014 Mar 12; 311):1023-34. [Full Text/Abstract]
Stalder AF, Schmidt M, Greiser A, Speier P, Guehring J, Friedrich MG, Mueller E. Robust cardiac BOLD MRI using an fMRI-like approach with repeated stress paradigms. Magn Reson Med. 2014 Mar 10; (2014 Mar 10). [Full Text/Abstract]
Mueller EL, Park ER, Davis MM. What the affordable care act means for survivors of pediatric cancer. J Clin Oncol. 32 (32; 7):615-7. [Full Text/Abstract]
Hilt EE, McKinley K, Pearce MM, Rosenfeld AB, Zilliox MJ, Mueller ER, Brubaker L, Gai X, Wolfe AJ, Schreckenberger PC. Urine is not sterile: use of enhanced urine culture techniques to detect resident bacterial flora in the adult female bladder. J Clin Microbiol. 52 (3; 52):871-6. [Full Text/Abstract]
Li CR, Mueller EE, Bradley LM. Islet antigen-specific Th17 cells can induce TNF-α-dependent autoimmune diabetes. J Immunol. 192 (4; 192):1425-32. [Full Text/Abstract]
Zimmern P, Litman HJ, Nager CW, Lemack GE, Richter HE, Sirls L, Kraus SR, Sutkin G, Mueller ER. Effect of aging on storage and voiding function in women with stress-predominant urinary incontinence. J Urol. [Full Text/Abstract]
Droege ME, Mueller EW, Besl KM, Lemmink JA, Kramer EA, Athota KP, Droege CA, Ernst NE, Keegan SP, Lutomski DM, Hanseman DJ, Robinson BR. Effect of a dalteparin prophylaxis protocol using anti-factor Xa concentrations on venous thromboembolism in high-risk trauma patients. J Trauma Acute Care Surg. 76 (76; 2):450-6. [Full Text/Abstract]
Anger JT, Mueller ER, Tarnay C, Smith B, Stroupe K, Rosenman A, Brubaker L, Bresee C, Kenton K. Robotic compared with laparoscopic sacrocolpopexy: a randomized controlled trial. Obstet Gynecol. 123 (123; 1):5-12. [Full Text/Abstract]
Mueller EM, Panitz C, Nestoriuc Y, Stemmler G, Wacker J. Panic disorder and serotonin reuptake inhibitors predict coupling of cortical and cardiac activity. Neuropsychopharmacology. 39 (2; 39):507-14. [Full Text/Abstract]
Chudyk W, Sotolongo C, Mueller E. A fiber-optic redox sensor for the iron(III)-iron(II) transition. Environ Monit Assess. 2014 Jan; 186 (186; 2014 Jan; 1):415-20. [Full Text/Abstract]
Vassilopoulos A, Chisholm C, Lahusen T, Zheng H, Deng CX. A critical role of CD29 and CD49f in mediating metastasis for cancer-initiating cells isolated from a Brca1-associated mouse model of breast cancer. Oncogene. 2013 Dec 9; 33 (2013 Dec 9; 33; 47):5477-5482. [Full Text/Abstract]
Jeong SM, Xiao C, Finley LW, Lahusen T, Souza AL, Pierce K, Li YH, Wang X, Laurent G, German NJ, Xu X, Li C, Wang RH, Lee J, Csibi A, Cerione R, Blenis J, Clish CB, Kimmelman A, Deng CX, Haigis MC. SIRT4 has tumor-suppressive activity and regulates the cellular metabolic response to DNA damage by inhibiting mitochondrial glutamine metabolism. Cancer Cell. 2013 Apr 15; 23 (23; 4; 2013 Apr 15):450-63. [Full Text/Abstract]
Wang RH, Xu X, Kim HS, Xiao Z, Deng CX. SIRT1 deacetylates FOXA2 and is critical for Pdx1 transcription and β-cell formation. Int J Biol Sci. 2013; 9 (9; 2013):934-46. [Full Text/Abstract]
Olivera A, Allende ML, Proia RL. Shaping the landscape: metabolic regulation of S1P gradients. Biochim Biophys Acta. 2013 Jan; 1831 (1831; 1; 2013 Jan):193-202. [Full Text/Abstract]
Xiao C, Wang RH, Lahusen TJ, Park O, Bertola A, Maruyama T, Reynolds D, Chen Q, Xu X, Young HA, Chen WJ, Gao B, Deng CX. Progression of chronic liver inflammation and fibrosis driven by activation of c-JUN signaling in Sirt6 mutant mice. J Biol Chem. 2012 Dec 7; 287 (50; 287; 2012 Dec 7):41903-13. [Full Text/Abstract]
Lee MH, Lahusen T, Wang RH, Xiao C, Xu X, Hwang YS, He WW, Shi Y, Deng CX. Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation. Oncogene. 2012 Jan 5; 31 (1; 31; 2012 Jan 5):116-27. [Full Text/Abstract]
Wang RH, Kim HS, Xiao C, Xu X, Gavrilova O, Deng CX. Hepatic Sirt1 deficiency in mice impairs mTorc2/Akt signaling and results in hyperglycemia, oxidative damage, and insulin resistance. J Clin Invest. 2011 Nov; 121 (2011 Nov; 121; 11):4477-90. [Full Text/Abstract]
Teng R, Gavrilova O, Suzuki N, Chanturiya T, Schimel D, Hugendubler L, Mammen S, Yver DR, Cushman SW, Mueller E, Yamamoto M, Hsu LL, Noguchi CT. Disrupted erythropoietin signalling promotes obesity and alters hypothalamus proopiomelanocortin production. Nat Commun. 2011 Nov 1; 2 (2; 2011 Nov 1):520. [Full Text/Abstract]
Kim HS, Vassilopoulos A, Wang RH, Lahusen T, Xiao Z, Xu X, Li C, Veenstra TD, Li B, Yu H, Ji J, Wang XW, Park SH, Cha YI, Gius D, Deng CX. SIRT2 maintains genome integrity and suppresses tumorigenesis through regulating APC/C activity. Cancer Cell. 2011 Oct 18; 20 (20; 2011 Oct 18; 4):487-99. [Full Text/Abstract]
Meruvu S, Hugendubler L, Mueller E. Regulation of adipocyte differentiation by the zinc finger protein ZNF638. J Biol Chem. 2011 Jul 29; 286 (30; 2011 Jul 29; 286):26516-23. [Full Text/Abstract]
Allende ML, Bektas M, Lee BG, Bonifacino E, Kang J, Tuymetova G, Chen W, Saba JD, Proia RL. Sphingosine-1-phosphate lyase deficiency produces a pro-inflammatory response while impairing neutrophil trafficking. J Biol Chem. 2011 Mar 4; 286 (9; 286; 2011 Mar 4):7348-58. [Full Text/Abstract]
Bagattin A, Hugendubler L, Mueller E. Transcriptional coactivator PGC-1alpha promotes peroxisomal remodeling and biogenesis. Proc Natl Acad Sci U S A. 2010 Nov 23; 107 (107; 2010 Nov 23; 47):20376-81. [Full Text/Abstract]
Shukla V, Coumoul X, Lahusen T, Wang RH, Xu X, Vassilopoulos A, Xiao C, Lee MH, Man YG, Ouchi M, Ouchi T, Deng CX. BRCA1 affects global DNA methylation through regulation of DNMT1. Cell Res. 2010 Nov; 20 (2010 Nov; 20; 11):1201-15. [Full Text/Abstract]