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Carmen Cadilla

Faculty RankProfessor
InstitutionUniversity of Puerto Rico
DepartmentSchool of Medicine
AddressUPR-Medical Sciences Campus, School of Medicine
Department of Biochemistry
San Juan PR 936
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    Dr. Carmen L. Cadilla holds a B.S. in Chemistry from UPR Mayagüez, an M.S. in Chemistry (Major: Organic Chemis-try) from UPR Rio Piedras, and a Ph.D. in Biomedical Sciences with a major in Biochemistry from the University of Tennessee-Oak Ridge Graduate School of Biomedical Sciences. Her doctoral work was on chromatin structure using ciliated protozoa as model systems. Her postdoctoral training in molecular biology was at the Oak Ridge National Laboratories-Biology Division, working on gene characterization and regulation of genes by insulin in rat liver and hepatoma cells.
    Dr. Cadilla joined the faculty at the UPR School of Medicine in 1990, in the Department of Microbiology, and in 1996 transferred to the Department of Biochemistry, where she directs the laboratory of Human Molecular Ge-netics and the MBRS-RISE Program of the Medical Sciences Campus. Her research is funded currently by the NCRR RCMI Program of the Medical Sciences Campus and UPR. Her current research focuses on genetic diseases that affect the Puerto Rican population.
    She teaches a graduate course in molecular biology and the topics of molecular genetics, regulation of gene ex-pression and mechanisms of hormone action to medical, dental and graduate students. She has also coordinated the Protein Biochemistry, Molecular Biology and Regulation of Eukaryotic Gene Expression courses in the Depart-ment of Biochemistry, as well as participated in the Molecular Physiology course of the Department of Physiolo-gy, UPR School of Medicine and the Pharmacogenetics course of the UPR School of Pharmacy. Dr. Cadilla has a joint appointment in the Department of Pediatrics.

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Casasnovas-Nieves JJ, Rodr?guez Y, Franco HL, Cadilla CL. Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors. Genes (Basel). 2023 Aug 30; 14(9). PMID: 37761873.
      Citations:    Fields:    
    2. Montes-Rodr?guez IM, Soto-Salgado M, Torres-Cintr?n CR, Tomassini-Fernandini JC, Su?rez E, Clavell LA, Cadilla CL. Incidence and Mortality Rates for Childhood Acute Lymphoblastic Leukemia in Puerto Rican Hispanics, 2012-2016. Cancer Epidemiol Biomarkers Prev. 2023 08 01; 32(8):1030-1037. PMID: 37222662.
      Citations: 1     Fields:    Translation:Humans
    3. Montes-Rodr?guez IM, Cadilla CL, L?pez-Garriga J, Gonz?lez-M?ndez R. Bioinformatic Characterization and Molecular Evolution of the Lucina pectinata Hemoglobins. Genes (Basel). 2022 11 05; 13(11). PMID: 36360278.
      Citations:    Fields:    Translation:AnimalsCells
    4. Crespo NE, Torres-Bracero A, Renta JY, Desnick RJ, Cadilla CL. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells. Int J Environ Res Public Health. 2021 02 19; 18(4). PMID: 33669496.
      Citations: 2     Fields:    Translation:HumansCells
    5. Rivera-Concepci?n J, Acevedo-Canabal J, Bur?s A, Vargas G, Cadilla C, Izquierdo NJ. Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series. Eur J Haematol. 2019 May; 102(5):432-436. PMID: 30659653.
      Citations: 3     Fields:    Translation:Humans
    6. Montes-Rodr?guez IM, Rodr?guez-Pou Y, Gonz?lez-M?ndez RR, Lopez-Garriga J, Ropelewski AJ, Cadilla CL. Characterization of Histone Genes from the Bivalve Lucina Pectinata. Int J Environ Res Public Health. 2018 10 02; 15(10). PMID: 30279399.
      Citations: 1     Fields:    Translation:AnimalsCells
    7. Gonz?lez De Le?n J, Gonz?lez M?ndez R, Cadilla CL, Rivera-Mariani FE, Bola?os-Rosero B. Identification of Immunoglobulin E-Binding Proteins of the Xerophilic Fungus Aspergillus penicillioides Crude Mycelial Mat Extract and Serological Reactivity Assessment in Subjects with Different Allergen Reactivity Profiles. Int Arch Allergy Immunol. 2018; 175(3):147-159. PMID: 29402803.
      Citations: 3     Fields:    Translation:HumansAnimals
    8. Claudio-Campos K, Labastida A, Ramos A, Gaedigk A, Renta-Torres J, Padilla D, Rivera-Miranda G, Scott SA, Rua?o G, Cadilla CL, Duconge-Soler J. Warfarin Anticoagulation Therapy in Caribbean Hispanics of Puerto Rico: A Candidate Gene Association Study. Front Pharmacol. 2017; 8:347. PMID: 28638342.
    9. Rodriguez Y, Gonzalez-Mendez RR, Cadilla CL. Correction: Evolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain. PLoS One. 2016; 11(10):e0164848. PMID: 27732679.
      Citations:    Fields:    
    10. Rodriguez Y, Gonzalez-Mendez RR, Cadilla CL. Evolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain. PLoS One. 2016; 11(8):e0161029. PMID: 27556926.
      Citations: 8     Fields:    
    11. Su?rez E, Gonz?lez L, P?rez-Mitchell C, Ortiz AP, Ram?rez-Sola M, Acosta J, Bernabe-Dones RD, Gonz?lez-Aquino C, Montes-Rodr?guez I, Cadilla CL. Pathway Analysis using Gene-expression Profiles of HPV-positive and HPV-negative Oropharyngeal Cancer Patients in a Hispanic Population: Methodological Procedures. P R Health Sci J. 2016 Mar; 35(1):3-8. PMID: 26932277.
      Citations: 5     Fields:    Translation:HumansCells
    12. Montes-Rodr?guez IM, Rivera LE, L?pez-Garriga J, Cadilla CL. Characterization and Expression of the Lucina pectinata Oxygen and Sulfide Binding Hemoglobin Genes. PLoS One. 2016; 11(1):e0147977. PMID: 26824233.
      Citations: 3     Fields:    Translation:AnimalsCells
    13. Duconge J, Ramos AS, Claudio-Campos K, Rivera-Miranda G, Berm?dez-Bosch L, Renta JY, Cadilla CL, Cruz I, Feliu JF, Vergara C, Rua?o G. A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics. PLoS One. 2016; 11(1):e0145480. PMID: 26745506.
      Citations: 18     Fields:    Translation:Humans
    14. Claudio-Campos K, Orengo-Mercado C, Renta JY, Peguero M, Garc?a R, Hern?ndez G, Corey S, Cadilla CL, Duconge J. Pharmacogenetics of healthy volunteers in Puerto Rico. Drug Metab Pers Ther. 2015 Dec; 30(4):239-49. PMID: 26501165.
      Citations: 4     Fields:    Translation:Humans
    15. Duconge J, Cadilla CL, Seip RL, Rua?o G. Why admixture matters in genetically-guided therapy: missed targets in the COAG and EU-PACT trials. P R Health Sci J. 2015 Sep; 34(3):175-7. PMID: 26454897.
      Citations: 6     Fields:    Translation:Humans
    16. Claudio-Campos K, Duconge J, Cadilla CL, Rua?o G. Pharmacogenetics of drug-metabolizing enzymes in US Hispanics. Drug Metab Pers Ther. 2015 Jun; 30(2):87-105. PMID: 25431893.
      Citations: 16     Fields:    Translation:Humans
    17. Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. Clin Genet. 2015 Nov; 88(5):489-493. PMID: 25410422.
      Citations: 8     Fields:    Translation:HumansCells
    18. Valent?n II, Rivera G, Nieves-Plaza M, Cruz I, Renta JY, Cadilla CL, Feliu JF, Seip RL, Rua?o G, Duconge J. Pharmacogenetic association study of warfarin safety endpoints in Puerto Ricans. P R Health Sci J. 2014 Sep; 33(3):97-104. PMID: 25244877.
      Citations: 5     Fields:    Translation:Humans
    19. Jard?n J, Izquierdo NJ, Renta JY, Garc?a-Rodr?guez O, Cadilla CL. Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). Ophthalmic Genet. 2016; 37(1):89-94. PMID: 24766090.
      Citations: 2     Fields:    Translation:Humans
    20. Duconge J, Cadilla CL. CYP2D6's functional status associated with the length of hospitalization stay in psychiatric patients: a twist in the tale or evidence that matters? Biomark Med. 2013 Dec; 7(6):913-4. PMID: 24266824.
      Citations: 1     Fields:    Translation:Humans
    21. Orengo-Mercado C, Nieves B, L?pez L, Vall?s-Ortiz N, Renta JY, Santiago-Borrero PJ, Cadilla CL, Duconge J. Frequencies of Functional Polymorphisms in Three Pharmacokinetic Genes of Clinical Interest within the Admixed Puerto Rican Population. J Pharmacogenomics Pharmacoproteomics. 2013 Mar 27; 4(113). PMID: 24040574.
    22. Rodr?guez-Agramonte F, Izquierdo NJ, Cadilla C. Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. Bol Asoc Med P R. 2013; 105(2):62-4. PMID: 23882993.
      Citations:    Fields:    Translation:Humans
    23. Ramos AS, Seip RL, Rivera-Miranda G, Felici-Giovanini ME, Garcia-Berdecia R, Alejandro-Cowan Y, Kocherla M, Cruz I, Feliu JF, Cadilla CL, Renta JY, Gorowski K, Vergara C, Rua?o G, Duconge J. Development of a pharmacogenetic-guided warfarin dosing algorithm for Puerto Rican patients. Pharmacogenomics. 2012 Dec; 13(16):1937-50. PMID: 23215886.
      Citations: 17     Fields:    Translation:Humans
    24. Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochim Biophys Acta. 2013 Mar; 1833(3):468-78. PMID: 23103514.
      Citations: 24     Fields:    Translation:Humans
    25. Rodriguez-Franco EJ, Cantres-Rosario YM, Plaud-Valentin M, Romeu R, Rodr?guez Y, Skolasky R, Mel?ndez V, Cadilla CL, Melendez LM. Dysregulation of macrophage-secreted cathepsin B contributes to HIV-1-linked neuronal apoptosis. PLoS One. 2012; 7(5):e36571. PMID: 22693552.
      Citations: 31     Fields:    Translation:HumansCells
    26. Valentin II, Vazquez J, Rivera-Miranda G, Seip RL, Velez M, Kocherla M, Bogaard K, Cruz-Gonzalez I, Cadilla CL, Renta JY, Feliu JF, Ramos AS, Alejandro-Cowan Y, Gorowski K, Rua?o G, Duconge J. Prediction of warfarin dose reductions in Puerto Rican patients, based on combinatorial CYP2C9 and VKORC1 genotypes. Ann Pharmacother. 2012 Feb; 46(2):208-18. PMID: 22274142.
      Citations: 11     Fields:    Translation:Humans
    27. Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. Int J Biochem Cell Biol. 2011 Oct; 43(10):1523-31. PMID: 21801849.
      Citations: 11     Fields:    Translation:HumansCells
    28. Mahadeo KM, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. J Pediatr. 2011 Oct; 159(4):623-7.e1. PMID: 21489556.
      Citations: 13     Fields:    Translation:Humans
    29. Lojo L, Santiago-Borrero P, Rivera E, Renta J, Cadilla CL. Asymptomatic child heterozygous for hemoglobin S and hemoglobin P?rto Alegre. Pediatr Blood Cancer. 2011 Mar; 56(3):458-9. PMID: 21225927.
      Citations:    Fields:    Translation:HumansCells
    30. Franco HL, Casasnovas J, Rodr?guez-Medina JR, Cadilla CL. Redundant or separate entities?--roles of Twist1 and Twist2 as molecular switches during gene transcription. Nucleic Acids Res. 2011 Mar; 39(4):1177-86. PMID: 20935057.
      Citations: 90     Fields:    Translation:AnimalsCells
    31. Tukel T, ?o?ic D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet. 2010 Aug 13; 87(2):289-96. PMID: 20691403.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    32. Torres-Serrant M, Ramirez SI, Cadilla CL, Ramos-Valencia G, Santiago-Borrero PJ. Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol. 2010 Aug; 32(6):448-53. PMID: 20562649.
      Citations: 5     Fields:    Translation:HumansPHPublic Health
    33. Villagra D, Duconge J, Windemuth A, Cadilla CL, Kocherla M, Gorowski K, Bogaard K, Renta JY, Cruz IA, Mirabal S, Seip RL, Rua?o G. CYP2C9 and VKORC1 genotypes in Puerto Ricans: A case for admixture-matching in clinical pharmacogenetic studies. Clin Chim Acta. 2010 Sep 06; 411(17-18):1306-11. PMID: 20488169.
      Citations: 10     Fields:    Translation:Humans
    34. Garc?a-Fragoso L, Garc?a-Garc?a I, Leavitt G, Renta J, Ayala MA, Cadilla CL. MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers. Int J Genet Mol Biol. 2010 Mar 01; 2(3):43-47. PMID: 20657745.
    35. Ramos C, Pietri R, Lorenzo W, Roman E, Granell LB, Cadilla CL, L?pez-Garriga J. Recombinant hemoglobin II from Lucina pectinata: a large-scale method for hemeprotein expression in E. coli. Protein J. 2010 Feb; 29(2):143-51. PMID: 20221789.
      Citations: 2     Fields:    Translation:AnimalsCells
    36. Pietri R, Lewis A, Le?n RG, Casabona G, Kiger L, Yeh SR, Fernandez-Alberti S, Marden MC, Cadilla CL, L?pez-Garriga J. Factors controlling the reactivity of hydrogen sulfide with hemeproteins. Biochemistry. 2009 Jun 09; 48(22):4881-94. PMID: 19368335.
      Citations: 37     Fields:    Translation:AnimalsCells
    37. Rua?o G, Duconge J, Windemuth A, Cadilla CL, Kocherla M, Villagra D, Renta J, Holford T, Santiago-Borrero PJ. Physiogenomic analysis of the Puerto Rican population. Pharmacogenomics. 2009 Apr; 10(4):565-77. PMID: 19374515.
      Citations: 18     Fields:    Translation:Humans
    38. Duconge J, Cadilla CL, Windemuth A, Kocherla M, Gorowski K, Seip RL, Bogaard K, Renta JY, Piovanetti P, D'Agostino D, Santiago-Borrero PJ, Rua?o G. Prevalence of combinatorial CYP2C9 and VKORC1 genotypes in Puerto Ricans: implications for warfarin management in Hispanics. Ethn Dis. 2009; 19(4):390-5. PMID: 20073138.
      Citations: 10     Fields:    Translation:Humans
    39. Duconge J, Cadilla CL, Windemuth A, Kocherla M, Gorowski K, Seip RL, Bogaard K, Renta JY, Piovanetti P, D'Agostino D, Santiago-Borrero PJ, Rua?o G. For the patient. DNA makeup of Hispanic persons should be determined before warfarin prescription. Ethn Dis. 2009; 19(4):479-80. PMID: 20077595.
      Citations:    Fields:    Translation:Humans
    40. Duconge J, Cadilla CL, Renta JY, Sil?n-Rivera P, Piovanetti P, Garc?a-Berdec?a R, Castro-Rosario LM, Monz?n S, V?lez L, Rosas G, Guerra JA, Santiago-Borrero PJ. Prevalence of CYP2C19 gene polymorphisms in the Puerto Rican population: a preliminary report. P R Health Sci J. 2008 Dec; 27(4):357-8. PMID: 19069365.
      Citations: 9     Fields:    Translation:Humans
    41. Rivera L, L?pez-Garriga J, Cadilla CL. Characterization of the full length mRNA coding for Lucina pectinata HbIII revealed an alternative polyadenylation site. Gene. 2008 Feb 29; 410(1):122-8. PMID: 18222617.
      Citations: 4     Fields:    Translation:AnimalsCells
    42. Izquierdo NJ, Emanuelli A, Izquierdo JC, Garc?a M, Cadilla C, Berrocal MH. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina. 2007 Nov-Dec; 27(9):1227-30. PMID: 18046229.
      Citations: 7     Fields:    Translation:Humans
    43. De Jes?s-Bonilla W, Cruz A, Lewis A, Cerda J, Bacelo DE, Cadilla CL, L?pez-Garriga J. Hydrogen-bonding conformations of tyrosine B10 tailor the hemeprotein reactivity of ferryl species. J Biol Inorg Chem. 2006 Apr; 11(3):334-42. PMID: 16468033.
      Citations: 7     Fields:    Translation:Cells
    44. Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90. PMID: 16417222.
      Citations: 26     Fields:    Translation:Humans
    45. Pietri R, Le?n RG, Kiger L, Marden MC, Granell LB, Cadilla CL, L?pez-Garriga J. Hemoglobin I from Lucina pectinata: a model for distal heme-ligand control. Biochim Biophys Acta. 2006 Apr; 1764(4):758-65. PMID: 16380302.
      Citations: 13     Fields:    Translation:AnimalsCells
    46. Cordova A, Barrios NJ, Ortiz I, Rivera E, Cadilla C, Santiago-Borrero PJ. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2005 Jan; 44(1):51-4. PMID: 15368543.
      Citations: 5     Fields:    Translation:HumansCTClinical Trials
    47. Pietri R, Granell L, Cruz A, De Jes?s W, Lewis A, Leon R, Cadilla CL, Garriga JL. Tyrosine B10 and heme-ligand interactions of Lucina pectinata hemoglobin II: control of heme reactivity. Biochim Biophys Acta. 2005 Mar 14; 1747(2):195-203. PMID: 15698954.
      Citations: 15     Fields:    Translation:Animals
    48. Le?n RG, Munier-Lehmann H, Barzu O, Baudin-Creuza V, Pietri R, L?pez-Garriga J, Cadilla CL. High-level production of recombinant sulfide-reactive hemoglobin I from Lucina pectinata in Escherichia coli. High yields of fully functional holoprotein synthesis in the BLi5 E. coli strain. Protein Expr Purif. 2004 Dec; 38(2):184-95. PMID: 15555934.
      Citations: 16     Fields:    Translation:AnimalsCells
    49. Collazo E, Pietri R, De Jes?s W, Ramos C, Del Toro A, Le?n RG, Cadilla CL, L?pez-Garriga J. Functional characterization of the purified holo form of hemoglobin I from Lucina pectinata overexpressed in Escherichia coli. Protein J. 2004 May; 23(4):239-45. PMID: 15214494.
      Citations: 5     Fields:    Translation:AnimalsCells
    50. Torres-Mercado E, Renta JY, Rodr?guez Y, L?pez-Garriga J, Cadilla CL. The cDNA-derived amino acid sequence of hemoglobin II from Lucina pectinata. J Protein Chem. 2003 Nov; 22(7-8):683-90. PMID: 14714736.
      Citations: 8     Fields:    Translation:AnimalsCells
    51. Garc?a-Garc?a I, Garc?a-Fragoso L, Renta J, Arce S, Cadilla CL. Erythrocyte volume, folate levels, and the presence of methylenetetrahydrofolate reductase polymorphism. P R Health Sci J. 2002 Mar; 21(1):17-9. PMID: 12013675.
      Citations:    Fields:    Translation:Humans
    52. Garc?a-Fragoso L, Garc?a-Garc?a I, de la Vega A, Renta J, Cadilla CL. Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects. J Child Neurol. 2002 Jan; 17(1):30-2. PMID: 11913566.
      Citations: 2     Fields:    Translation:Humans
    53. Waldemar Adam , Carmen Cadilla , Omar Cueto , Luis O. Rodriguez. J. Am. Chem. Soc. Fluorescer-enhanced chemiluminescence of a cyclic peroxalate via electron exchange. 1980; 102(14):4802-4805. View Publication.
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