U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief

​Publications

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

Publications
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 (8):3396-410. [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):1088-99. [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 :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 (29):10684-9. [Full Text/Abstract]
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. [Full Text/Abstract]
Vassilopoulos A, Xiao C, Chisholm C, Chen W, Xu X, Lahusen TG, Bewley C, Deng CX. Synergistic therapeutic effect of cisplatin and PI3K inhibitors in cancer growth and metastasis of Brca1 mutant tumors. J Biol Chem. 2014 Jul 8. [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 (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):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):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 (7506):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 (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 (6):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):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 (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):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 (19):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]
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 (5):2076-86. [Full Text/Abstract]
Giannouli CC, Chandris P, Proia RL. Visualizing S1P-directed cellular egress by intravital imaging. Biochim Biophys Acta. 2014 May; 1841 (5):738-744. [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 :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 (5):480.e1-8. [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]
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):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 (4):662-9. [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):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):E824-37. [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):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. [Full Text/Abstract]
Mueller EL, Park ER, Davis MM. What the affordable care act means for survivors of pediatric cancer. J Clin Oncol. 32 (7):615-7. [Full Text/Abstract]